Paediatrics Flashcards

Question

What vaccines are available for prevention of Pneumonia?

Answer 1

**Pneumococcal Vaccine:** Routinely offered as 3 injections at 2 months, 4 months and 12-13 months

Answer 2

Whooping Cough is a severe upper respiratory tract infection characterised by intense bouts of spasmodic coughing that may lead to apnoea in infants.

Answer 3

Pertussis is primarily caused by the Gram-negative bacterium, Bordetella pertussis.

Answer 4

* Much less incidence now due to vaccination programme * Vaccinations: **2,3,4 months**, * Impacts infants more dramatically

Answer 5

**Catarrhal Phase:** * Lasts 1-2 weeks: coryzal symptoms **Paroxysmal Phase:** * Occurs week 3-6: characteristic ‘inspiratory whoop’ * Cough worse at night * Spasmodic coughing episodes - can lead to vomiting * Low grade fever * Sore throat **Convalescent phase** * Downgrade of cough, may last up to 3 months

Answer 6

* Nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis * Within 2 to 3 weeks of the onset of symptoms * FBC * Antibody test (serology) Anti-pertussis Toxin Imunoglobulin G

Answer 7

**Macrolide Antibiotic:** * Infants <1 month - **Azithromycin** * Infants >1 month - **Azithromycin, Clarithromycin, Erythromycin** * Prophylactic Abx give to close contacts who ae in higher risk health groups * Notify PHE * School Exlcusion: 48 hours after commencing antibiotics (or 14 days from onset of symptoms if no antibiotics )

Answer 8

subconjunctival haemorrhage pneumonia bronchiectasis seizures

Answer 9

Croup, also referred to as **acute laryngotracheobronchitis**, is an acute respiratory syndrome that affects the larynx, trachea, and bronchi. It is a viral infection of the upper airways It is characterized by inflammation and oedema and swelling that results in partial obstruction of the upper airway at the larynx.

Answer 10

Typically affects children aged **6 months to 6 years** with the highest incidence in **Under 3s** More common in autumn and winter (spring?) More common in boys

Answer 11

* **Parainfluenza Virus** * Influenza * Adenovirus * Respiratory Syncytial Virus (RSV)

Answer 12

**Mild:** * Occasional **barking cough** * no audible stridor, * no recession, * child happy to eat and drink as normal **Moderate:** * Frequent **barking cough with audible stridor at rest**, * suprasternal recession, * child not agitated **Severe:** * Frequent **barking cough, prominent stridor** * marked sternal recession, * agitated and distressed child potentially with tachycardia

Answer 13

* 1-4 days history of non-specific rhinorrhoea (thin, nasal discharge), fever and **barking cough** * Worse at night * Stridor * Decreased bilateral air entry * Tachypnoea * Increased work of breathing - Costal recession, tracheal tug

Answer 14

* Drowsiness * Lethargy * Cyanosis * Tachycardia * Laboured breathing

Answer 15

* **Epiglottitis:** This presents with sudden onset high fever, drooling, dysphagia, and a muffled voice but lacks the classic barking cough. * **Foreign body aspiration:** This usually involves a sudden onset of choking, coughing, or wheezing after an episode of eating or playing with small objects. * **Bacterial tracheitis:** Patients with this condition often have a high fever and a severe, rapidly progressing respiratory distress. They might have a history of preceding viral infection. * **Asthma:** Characterized by recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing.

Answer 16

**Clinical Diagnosis** * Nasopharyngeal swabs Plus NAAT/CPR for Parainfluenza * X-ray of the neck may show the classic "**steeple sign**" indicative of subglottic narrowing in severe or atypical cases.

Answer 17

**Mild Cases:** * Single dose oral Dexamethasone 150mcg/kg repeated after 12 hours if required **More severe/Emergency cases:** * Oral Dexamethasone * Oxygen * Nebulised Budesonide * Nebulised adrenaline may be indicated in situations where there are significant concerns about airway patency.

Answer 18

* Otitis Media * Dehydration due to reduced fluid Intake * Superinfection: Pneumonia

Answer 19

Asthma is a chronic inflammatory airway condition characterised by airway hypersensitivity, reversible airway obstruction and Bronchospasm This bronchoconstriction is reversible with bronchodilators such as inhaled salbutamol.

Answer 20

Affects nearly 10% of children in the UK

Answer 21

Unclear but likely multifactorial Family History of Asthma History of Atopy (allergy/Eczema)

Answer 22

* Genetic * Prematurity * Low birth weight * Parental smoking * Viral bronchiolitis in early life * Cold air * Allergen exposure

Answer 23

Cough Breathlessness Bilateral Polyphonic Wheeze Chest tightness

Answer 24

Aspirin Beta blockers

Answer 25

Curschmann spirals: Mucus plugs that look like casts of the small bronchi Charcot-Leyden crystals: From break down of eosiophils.

Answer 26

Nasal Polyps Asthma Aspirin sensitivity

Answer 27

Atopic Rhinitis (Hayfever) Allergic Asthma (Asthma) Atopic Dermatitis (Eczema)

Answer 28

Intermittent Mild Persistent Moderate Persistent Severe Persistent

Answer 29

* Episodic symptoms with intermittent exacerbations * **Diurnal variability, typically worse at night and early morning** * Dry cough with wheeze and shortness of breath * Typical triggers * **A history of other atopic conditions such as eczema, hayfever and food allergies** * Family history of asthma or atopy * Bilateral widespread “polyphonic” wheeze heard by a healthcare professional * Symptoms improve with bronchodilators

Answer 30

* Wheeze only related to coughs and colds, more suggestive of viral induced wheeze * Isolated or productive cough * Normal investigations * No response to treatment * Unilateral wheeze suggesting a focal lesion, inhaled foreign body or infection

Answer 31

Dust (house dust mites) Animals Cold air Exercise Smoke Food allergens (e.g. peanuts, shellfish or eggs)

Answer 32

* **Respiratory tract infections:** Symptoms include fever, malaise, cough, and dyspnoea. * **Viral wheeze:** Characterized by recurrent wheezing episodes associated with viral infections. * **Foreign body inhalation:** Sudden onset of coughing, choking, and unilateral decreased breath sounds. * **Bronchiolitis:** Predominantly in infants; symptoms include cough, wheeze, and feeding difficulties. * **Allergic reactions or anaphylaxis:** Acute onset of urticarial rash, swelling, difficulty breathing, and potentially, shock.

Answer 33

No gold standard test or diagnostic criteria. **Children generally not diagnosed until they are at least 2-3 years old.** **Clinical diagnosis based on typical history and examination** * **Low probability of asthma:** If child is symptomatic then referred to a specialist. * **Intermediate or high probability of asthma:** A trial of treatment implemented and if it improves symptoms then a diagnosis can be made.

Answer 34

* Detailed history highlighting the episodic nature of wheeze, breathlessness, cough, and chest tightness * **Serial peak flow readings**, both symptomatic and asymptomatic **done several times a day over 2-4 weeks** to indicate reversible airflow obstruction * **Spirometry with reversibility testing** (**In children aged >5**) * Trial of a short-acting beta agonist (SABA) inhaler in those suspected of having asthma * Direct Bronchial Challenge Test with histamine or methacholine * FeNO testing where cases are unclear

Answer 35

FEV1 Significantly Reduced FVC Normal FEV1:FVC <70% if poorly controlled Use of bronchodilators should **improve FEV1 by >12% AND increase FEV1 by 200ml**

Answer 36

* Start at the most appropriate step for the severity of the symptoms * Review at regular intervals based on the severity * Step up and down the ladder based on symptoms * Aim to achieve no symptoms or exacerbations on the lowest dose and number of treatments * Always check inhaler technique and adherence at each review

Answer 37

**Without Spacer** 1. Remove the cap 2. Shake the inhaler (depending on the type) 3. Sit or stand up straight 4. Lift the chin slightly 5. Fully exhale 6. Make a tight seal around the inhaler between the lips 7. Take a steady breath in whilst pressing the canister 8. Continue breathing for 3 – 4 seconds after pressing the canister 9. Hold the breath for 10 seconds or as long as comfortably possible 10. Wait 30 seconds before giving a further dose 11. Rinse the mouth after using a steroid inhaler **With Spacer** 1. Assemble the spacer 2. Shake the inhaler (depending on the type) 3. Attach the inhaler to the correct end 4. Sit or stand up straight 5. Lift the chin slightly 6. Make a seal around the spacer mouthpiece or place the mask over the face 7. Spray the dose into the spacer 8. Take steady breaths in and out 5 times until the mist is fully inhaled

Answer 38

1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2. Add an **8 week trial of low dose corticosteroid inhaler** If symptoms reoccur within 4 weeks of trial ending then restart ICS 3. Add an LRTA 4. Refer to a specialist.

Answer 39

1. Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2. Add a regular paediatric low dose corticosteroid inhaler **Assess Inhaler Technique** 3. Consider offering LRTA (monteleukast) and reviewing response in 4-8 weeks 4. Consider stopping LRTA and add a **long-acting beta-2 agonist inhaler** (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4. If asthma is uncontrolled then consider Changing ICS and LABA to MART Regime 6. If asthma is uncontrolled on MART Regime then consider increasing ICS dose to paediatric moderate dose. 7. Increase the dose of the inhaled corticosteroid to a high dose. Referral to a specialist. They may require daily oral steroids.

Answer 40

1. Start a short-acting beta 2 agonist inhaler (e.g. salbutamol) as required 2. Add a regular low dose corticosteroid inhaler **Assess Inhaler Technique** 3. Consider offering a leukotriene receptor antagonist (LTRA) in addition to the low dose ICS. Review the response to treatment in 4 to 8 weeks. 4. Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. (Consider stopping LRTA) 5. If asthma uncontrolled, offer to change the person's ICS and LABA maintenance therapy to a maintenance and reliever therapy (MART) regimen with a low maintenance ICS dose. 5. Titrate the inhaled corticosteroid up to a moderate dose. 6. If asthma is uncontrolled on a moderate maintenance ICS dose with a LABA (either as MART or a fixed-dose regimen), with or without an LTRA, consider a trial of an additional drug (Theophylline). Alternatively change ICS to high dose

Answer 41

There is evidence that inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months). This effect was dose-dependent, meaning it was less of a problem with smaller doses. Explain that these are effective medications that work to prevent poorly controlled asthma and asthma attacks that could lead to higher doses of oral steroids being given. Poorly controlled asthma can lead to a more significant impact on growth and development. The child will also have regular asthma reviews to ensure they are growing well and on the minimal dose required to effectively control symptoms.

Answer 42

**Stunted Growth** **Oral thrush** Good inhaler technique can reduce this risk by ensuring that the medication reaches the lungs and not stays in the back of the mouth or throat

Answer 43

No Night time symptoms Inhaler no more than 3 times a week No breathing difficulties, cough or wheeze most days Able to exercise without symptoms Normal Lung Function Tests

Answer 44

Fine Tremor HYPOKALAEMIA Headache Palpitations Muscle cramps

Answer 45

A rapid deterioration in the symptoms of asthma. This could be triggered by any of the typical asthma triggers, such as infection, exercise or cold weather.

Answer 46

* Progressively worsening shortness of breath * Signs of respiratory distress * Fast respiratory rate (tachypnoea) * Expiratory wheeze on auscultation heard throughout the chest * The chest can sound “tight” on auscultation, with reduced air entry * **Silent Chest:** Airways are so tight it is not possible for the child to move enough air through the airways to create a wheeze. This might be associated with reduce respiratory effort due to fatigue. (A less experienced practitioner may think because there is no respiratory distress and no wheeze the child is not as unwell, however in reality this a silent chest is life threatening.)

Answer 47

Moderate: PEF > 50% predicted Severe: PEF < 50% predicted Life threatening: PEF < 33% predicted

Answer 48

PEF > 50% predicted Normal speech

Answer 49

* PEF < 50% predicted * O2 saturations < 92% * Incomplete sentences * Signs of respiratory distress * **Respiratory rate:** * >40 in 1-5 years * > 30 in >5 years * **Heart rate:** * >140 in 1-5 years * > 125 in >5 years

Answer 50

**33, 92, CCHEST:** * PEF **< 33%** predicted * **<92%** - Oxygen Stats **C**yanosis / **CO2** normalised **C**onfusion/Consciousness/AMS **H**ypotension **E**xhaustion and poor respiratory effort **S**ilent Chest **T**achycardia

Answer 51

* Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard) * Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate) * Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous) * Antibiotics only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin)

Answer 52

* Inhaled or nebulised salbutamol (a beta-2 agonist) * Inhaled or nebulised ipratropium bromide (an anti-muscarinic) * IV magnesium sulphate * IV aminophylline

Answer 53

**Maintain oxygen saturations between 94-98% with high flow oxygen if necessary.** 1. Administer **inhaled salbutamol** via spacer: 10 puffs every 2 hours 2. Proceed to **nebulised salbutamol** if necessary 3. Add nebulised **ipratropium bromide** 4. If O2 saturations remain <92%, **add magnesium sulphate** 5. Add **intravenous salbutamol** if no response to inhaled therapy 6. If severe or life-threatening acute asthma is not responsive to inhaled therapy, **add aminophylline** **All patients should receive steroids (Oral Prednisolone or IV hydrocortisone) given IV only if the patient is unable to take the dose orally** If the patient is not responding to salbutamol or ipratropium, consult with a senior clinician

Answer 54

10 puffs 2 hourly then 10 puffs 4 hourly then 6 puffs 4 hourly then 4 puffs 6 hourly.

Answer 55

Serum potassium as salbutamol drives potassium into cells

Answer 56

* **Pneumothorax:** Very sudden onset, chest pain, possible deviation of the trachea * **Anaphylaxis:** Very sudden onset, associated with antigen exposure * **Inhalation of a foreign body:** Unilateral chest signs * **Cardiac arrhythmia:** Chest pain or palpitations, tachycardia or changes in blood pressure

Answer 57

* When the child is well on 6 puffs 4 hours of Salbutamol * Finish the course of steroids if started (typically 3 day course) * Provide Safety net information about when to return to hospital or seek help * Provide an individualised asthma action plan

Answer 58

An acute wheezy illness caused by a viral infection. Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.

Answer 59

* Presenting **before 3 years of age** * No atopic history * Only occurs during viral infections * Asthma has other triggers such as exercise, cold weather, dust and strong emotions

Answer 60

RSV Rhinovirus

Answer 61

Evidence of a viral illness (fever, cough and coryzal symptoms) for 1-2 days preceding the onset of: * Shortness of breath * Signs of respiratory distress * Expiratory wheeze throughout the chest

Answer 62

* Supplementary oxygen if required (i.e. oxygen saturations less than 94% or working hard) * Bronchodilators (e.g. salbutamol, ipratropium and magnesium sulphate) Max of 4 hourly up to 10 puffs * Steroids to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous)

Answer 63

Neither viral-induced wheeze or asthma cause a focal wheeze. If you hear a focal wheeze be very cautious and investigate further for a focal airway obstruction such as an inhaled foreign body or tumour. These patients will require an urgent senior review.

Answer 64

Bronchiolitis is a widespread chest infection, predominantly **affecting infants aged 1-12 months** Bronchiolitis describes inflammation and infection in the bronchioles, the small airways of the lungs.

Answer 65

* Most common cause of LRTI in < 1 year olds * 90% of patients 1-9 months * rarelydiagnosed > 2 years * Highest Incidence In winter months

Answer 66

Respiratory Syncytial Virus (RSV) is the most common cause (80% of cases)

Answer 67

* Breastfeeding for < 2 months * Prematurity * Smoke Exposure * Older siblings who attend nursery/schools * Chronic Lung disease of prematurity

Answer 68

When a virus affects the airways of adults, the swelling and mucus are proportionally so small that it has little noticeable effect on breathing. This swelling and constriction of the airway caused by a virus has little noticeable effect on the larger airways of an older child or adult, however due to the small diameter of a child’s airway, the slight narrowing leads to a proportionally larger restriction in airflow. **This is described by Poiseuille’s law, which states that flow rate is proportional to the radius of the tube to the power of four. Therefore, halving the diameter of the tube decreases flow rate by 16 fold.** This causes the harsh breath sounds, wheeze and crackles heard on auscultation when listening to a bronchiolitic baby’s chest.

Answer 69

* **Coryzal symptoms** * **Signs of respiratory distress** * Dyspnoea (heavy laboured breathing) * Tachypnoea (fast breathing) * Poor feeding * Mild fever (under 39ºC) * **Apnoeas:** Episodes where the child stops breathing * **Wheeze and crackles** on auscultation

Answer 70

* Raised respiratory rate * Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles * Intercostal and subcostal recessions * Nasal flaring * Head bobbing * Tracheal tugging * Cyanosis (due to low oxygen saturation) * Abnormal airway noises (grunting)

Answer 71

* Bronchiolitis usually starts as an upper respiratory tract infection (URTI) with coryzal symptoms. * From this point around half get better spontaneously. The other half develop chest symptoms over the first 1-2 days following the onset of coryzal symptoms. * **Symptoms are generally at their worst on day 3 or 4.** * Symptoms usually last 7 to 10 days total and most patients fully recover within 2 – 3 weeks. * Children who have had bronchiolitis as infants are more likely to have viral induced wheeze during childhood.

Answer 72

* **Asthma:** Characterised by recurrent episodes of wheezing, breathlessness, chest tightness, and coughing, particularly at night or in the early morning. * **Pneumonia:** Symptoms include cough with phlegm or pus, fever, chills, and difficulty breathing. * **Foreign body aspiration:** This condition may present with sudden onset of respiratory distress, choking, gagging, wheezing, or coughing.

Answer 73

**Clinical Diagnosis** * Nasopharyngeal aspirate for RSV culture * Chest X-rays may be considered in severe cases show hyper inflated lungs

Answer 74

* Aged under 3 months or any pre-existing condition such as prematurity, Downs syndrome or cystic fibrosis * 50 – 75% or less of their normal intake of milk * Clinical dehydration * Respiratory rate above 70 * Oxygen saturations below 92% * Moderate to severe respiratory distress, such as deep recessions or head bobbing * Apnoea's * Parents not confident in their ability to manage at home or difficulty accessing medical help from home

Answer 75

**Prophylaxis:** Administration of **Palivizumab** in high-risk patients. **Supportive Care:** Including adequate hydration and nutrition, and fever management with NG tube or IV fluids **Saline nasal drops and nasal suctioning:** Can help clear secretions particularly prior to feeding **Oxygen Therapy:** Supplementary oxygen if sats < 92%. This may be escalated to **mechanical ventilation** in severe cases. **Antiviral Therapy:** Ribavirin may be used in severe cases.

Answer 76

An RSV Monoclonal antibody that targets the RSV. A monthly injection is given as prevention against RSV. Considered in: * Children <9 months with chronic lung disease of prematurity * Children < 2 years with severe immunodeficiency require long term ventilation

Answer 77

**Bronchiolitis Obliterans** Rare, chronic complication of bronchiolitis, colloquially known as **popcorn lung**

Answer 78

* The bronchioles are injured due to infection or inhalation of a harmful substance, leading to an overactive cellular repair process and subsequent build-up of scar tissue. * The scar tissue obstructs the bronchioles, impairing oxygen absorption in the body. * The scarring and narrowing of the bronchioles may continue to worsen over time, potentially leading to respiratory failure

Answer 79

* Viral infections, with **Adenovirus** being the most frequent. * It may also develop as a complication following bone marrow or lung transplants.

Answer 80

Symptoms of bronchiolitis obliterans are progressive and usually encompass: Dry cough Shortness of breath Hypoxia Wheezing Lethargy

Answer 81

**CT scan:** Used to detect early lung changes and allows for an earlier diagnosis. **Lung biopsy:** This is sometimes performed to confirm the diagnosis. **Pulmonary function tests:** A significantly Serial FEV1 measurements may be useful for monitoring lung transplant patients and detecting the condition early.

Answer 82

**Supportive Management as there is no definitive cure** * **Immunosuppressive agents:** Tacrolimus, cyclosporin, mycophenolate mofetil, and prednisone have been used to treat bronchiolitis obliterans after transplant.

Answer 83

A progressive, autosomal recessive disorder that affects mucus glands and causes persistent lung infections limiting the ability to breathe over time.

Answer 84

* Autosomal Recessive * Cystic Fibrosis Transmembrane Conductance Regulatory Gene (CFTR) * Chromosome 7 * **Delta-F508**

Answer 85

Approximately 1 in 25 have the CFTR protein mutation Probability of having a child with CF is 1 in 2500

Answer 86

**2 in 3**

Answer 87

Mutation in CFTR causes it to become dysfunctional. CFTR has reduced function meaning that less Cl-, Na+ and water are released into ductal secretions leading to the thickening of the mucus secretion.

Answer 88

* **Thick pancreatic and biliary secretions** that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract * **Low volume thick airway secretions** that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections * **Congenital bilateral absence of the vas deferens** in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility * **Meconium ileus** often the first sign of CF where the child does not pass meconium within 24 hours, abdominal distention and vomiting.

Answer 89

* **Meconium ileus** is often the first sign * recurrent respiratory tract infections * Failure to thrive (faltering growth) * Malabsorption syndromes * Pancreatitis

Answer 90

* Chronic cough * Thick sputum production * Recurrent respiratory tract infections * Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes * Abdominal pain and bloating * Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat * Poor weight and height gain (failure to thrive)

Answer 91

* Low weight or height on growth charts * Nasal polyps * Finger clubbing * Crackles and wheezes on auscultation * Abdominal distention

Answer 92

Cyanotic Heart Disease, Cystic Fibrosis Lung Cancer, Lung abscess, Liver disease Ulcerative Colitis Bronchiectasis Benign Mesothelioma Infective Endocarditis, Idiopathic Pulmonary Neurogenic Tumors Gastrointestinal Disease

Answer 93

* **Bronchiectasis:** Chronic cough, recurrent chest infections, and production of large amounts of sputum * **Asthma:** Chronic cough, wheezing, shortness of breath, chest tightness * **Chronic Obstructive Pulmonary Disease (COPD):** Chronic cough, recurrent chest infections, shortness of breath, wheezing * **Gastroesophageal Reflux Disease (GORD):** Heartburn, regurgitation, chest pain, cough, and dysphagia * **Coeliac Disease:** Diarrhoea, bloating, weight loss, fatigue, anaemia

Answer 94

**Newborn blood spot testing** is performed on all children at about 5 days old **The sweat test** is the gold standard for diagnosis **Genetic testing for CFTR gene** can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Answer 95

**Gold standard investigation for CF** 1. A patch of skin is chosen for the test, typically on the arm or leg. 2. Pilocarpine is applied to the skin on this patch. 3. Electrodes are placed either side of the patch and a small current is passed between the electrodes. 4. This causes the skin to sweat. 5. The sweat is absorbed with lab issued gauze or filter paper and sent to the lab for testing for the chloride concentration. 6. The **diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l.**

Answer 96

Patients with cystic fibrosis struggle to clear the secretions in their airways. This creates a perfect environment with plenty of moisture and oxygen for colonies of bacteria to live and replicate.

Answer 97

Staph aureus Pseudomonas Aeruginosa Haemophilus influenzae Klebsiella pneumonia E.coli

Answer 98

**MDT Input** * **Chest physiotherapy** several times a day is essential to clear mucus and reduce the risk of infection and colonisation * **Exercise** improves respiratory function and reserve, and helps clear sputum * **High calorie diet** is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy * **CREON tablets** to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) * **Prophylactic flucloxacillin** to reduce the risk of bacterial infections (particularly staph aureus) * **Bronchodilators** such as salbutamol inhalers can help treat bronchoconstriction * **Nebulised DNase (dornase alfa)** is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear * **Nebulised hypertonic saline** * **Vaccinations including pneumococcal, influenza and varicella**

Answer 99

* Lung transplantation is an option in end stage respiratory failure * Liver transplant in liver failure * Fertility treatment involving testicular sperm extraction for infertile males * Genetic counselling

Answer 100

A rapidly progressive infection (typically with **Haemophilus influenzae Type B**) that leads to inflammation of the epiglottis and adjacent tissues. This inflammation can swiftly progress to blockage of the upper airway within hours, posing a risk of death. **Acute Epiglottitis is a life threatening emergency**

Answer 101

Most common in children aged 1-6 years Can occur at any age **Rare condition due to the routine vaccination program against haemophilus**

Answer 102

In you exams keep a lookout for an unvaccinated child presenting with a fever, sore throat, difficulty swallowing that is sitting forward and drooling and suspect epiglottitis.

Answer 103

Primarily **Haemophilus influenzae Type B**

Answer 104

* Patient presenting with a **sore throat and stridor** * **Drooling** * **Tripod position:** sat forward with a hand on each knee * High fever * Difficulty or painful swallowing * Muffled voice * Scared and quiet child * Septic and unwell appearance

Answer 105

* **Croup:** Characterized by a barking cough, inspiratory stridor, and hoarseness. * **Peritonsillar abscess:** Presents with severe throat pain, muffled "hot potato" voice, drooling, and trismus (difficulty opening the mouth). * **Bacterial tracheitis:** Severe respiratory distress, high fever, and purulent tracheal secretions can be noted.

Answer 106

**If the patient is well:** * Laryngoscope to visualise inflamed epiglottis **If the patient is acutely unwell and epiglottitis is suspected:** * Investigations should not be performed: ensure patient is stable * Performing a lateral X-ray of the neck shows a characteristic **“thumb sign” or “thumbprint sign”**. This is caused by the oedematous and swollen epiglottis.

Answer 107

* **Do not examine** or upset the child without senior support to prevent prompt closing of the airway due to distress * **Immediate referral** to ENT and Anaesthetics * Securing the airway, possibly through **endotracheal intubation** with anaesthetist, as a first priority (potential for Tracheostomy) * Administration of **IV antibiotics, typically cefuroxime and steroids** (dexamethasone) * **Oxygen if required** * May require nebulised adrenalin * Transfer patient to ICU * Culturing and examination of the throat once the airway is secure

Answer 108

Most patients recover without requiring intubation. Death can occur in severe cases or if it is not diagnosed and managed in time. **Common complication of an epiglottic abscess** forming which is a collection of pus around the epiglottis. This is also life threatening and is managed similarly to epiglottitis

Answer 109

**Surfactant Deficent Lung Disease (SDLD)** Affects premature neonates, before the lungs start producing adequate surfactant and leads to structurally immature lungs common in below 32 week babies.

Answer 110

* **Prematurity** * **Caesarean section** * male sex * diabetic mothers * second born of premature twins

Answer 111

Inadequate surfactant leads to high surface tension within alveoli leading to atelectasis (lung collapse) as it is more difficult for the alveoli and the lungs to expand leading to inadequate gaseous exchange and hypoxia, hypercapnia and respiratory distress.

Answer 112

28-32 weeks: 25% 26-28 weeks: 50%

Answer 113

**Prevention during pregnancy with Dexamethasone** is given to mothers with suspected or confirmed preterm labour to increase production of surfactant and reduce the incidence and severity of respiratory distress syndrome in the baby **Oxygen Therapy** **Assisted Ventialtion with CPAP** **Endotracheal surfactant**, which is artificial surfactant delivered into the lungs via an endotracheal tube

Answer 114

* Pneumothorax * Infection * Apnoea * Intraventricular Haemorrhage * Pulmonary Haemorrhage * Necrotising Enterocolitis

Answer 115

* Chronic lung disease of prematurity * Retinopathy of Prematurity * Neurological, hearing and visual impairment

Answer 116

Also known as **Chronic lung disease of prematurity (CLDP)** **Only diagnosed after 36 weeks gestation** It occurs in premature babies, typically those born before 28 weeks gestation. These babies suffer with respiratory distress syndrome and require oxygen therapy or intubation and ventilation at birth and **which is required until they reach 36 weeks gestational age**

Answer 117

* **Steroids** to mothers who are at risk of premature labour **Once Neonate is Born** * Using CPAP instead of intubation where possible. * **caffeine** to stimulate respiratory effort * **NOT** Over oxygenating

Answer 118

Diagnosis is made based on **chest x-ray changes** and when the infant requires oxygen therapy **after they reach 36 weeks gestational age.**

Answer 119

* Sleep study to assess oxygen sats during sleep * May require home oxygen via NC which is weaned over first year of life * **RSV protection with palivizumab** to prevent severe bronchiolitis

Answer 120

Severe Bronchiolitis with RSV infection **Palivizumab** monthly injections

Answer 121

Otitis media is an infection-induced inflammation of the middle ear, frequently occurring after a viral upper respiratory tract infection.

Answer 122

* The middle ear is the space that sits between the tympanic membrane (ear drum) and the inner ear. * This is where the cochlea, vestibular apparatus and nerves are found. * It is a very common site of infection in children. * The bacteria enter from the back of the throat through the eustachian tube. * A bacterial infection of the middle ear is often preceded by a viral upper respiratory tract infection.

Answer 123

Otitis media is a common condition, predominantly affecting young children.

Answer 124

The primary cause of otitis media is **bacterial infection**, particularly common in young children, **often following a viral upper respiratory tract infection.**

Answer 125

**Streptococcus pneumoniae** **Other:** * Haemophilus influenzae * Moraxella catarrhalis * Staphylococcus aureus

Answer 126

* **Acute Otitis Media:** Deep-seated pain, impaired hearing, systemic illness, and fever. The tympanic membrane may show blood vessel injection and diffuse erythema. * **Chronic Benign Otitis Media:** Characterized by a dry tympanic membrane perforation without chronic infection. * **Chronic Secretory Otitis Media (Glue Ear):** Persistent pain lasting several weeks after the initial episode with an abnormal-looking drum and reduced mobility of the membrane. * **Chronic Suppurative Otitis Media:** Persistent purulent drainage through the perforated tympanic membrane.

Answer 127

* Ear pain with reduced hearing * Fever * Coryzal symptoms: sore throat and general malaise * Irritability * feeling of fullness in the ear * Discharge if tympanic membrane is perforated * If the infected affects the vestibular system then balance issues and vertigo

Answer 128

**Clinical Diagnosis** * Good history * Physical examination using an Otoscope to visualise the Tympanic membrane

Answer 129

Otitis media will give a bulging, red, inflamed looking membrane. When there is a perforation, you may see discharge in the ear canal and a hole in the tympanic membrane.

Answer 130

* **Upper respiratory tract infection:** Symptoms include a runny nose, cough, and sore throat. * **Otitis externa:** characterized by pain exacerbated by tugging of the auricle, accompanied by otorrhea and possible hearing loss * **Mastoiditis:** presenting with postauricular pain, erythema, and swelling, as well as protrusion of the ear * **Temporomandibular joint disorder:** characterized by jaw pain, difficulty in opening the mouth, and clicking or popping sounds during jaw movement

Answer 131

**Admit:** * Any child under 3 months with a temp of 38 degrees * Any child of 3-6 months with a temp of >39 degrees **Pain and Fever:** * Treat with simple analgesia such as paracetamol or ibuprofen **Antibiotics:** * Most cases will resolve **without** need for Abx * **Delayed Prescription:** ask the parents to collect Abx prescription in 3-4 days if symptoms have not improved by then * **Immediate Prescription:** Given to those who are systemically unwell or at high risk of complications (immunocompromised) * **Amoxicillin for 5 days is first line**. Alternatives are erythromycin and clarithromycin **Safety net: offer education to parents and patients on when to seek further medical attention**

Answer 132

BITSS: B/L AOM in children < 2 years old Immunocompromised Tympanic membrane perforation Symptoms lasting ≥ 4 days Systemically Unwell

Answer 133

perforation of the tympanic membrane → otorrhoea * unresolved with acute otitis media with perforation may develop into chronic suppurative otitis media (CSOM) **CSOM is defined as perforation of the tympanic membrane** * with otorrhoea for > 6 weeks * labyrinthitis * Hearing loss

Answer 134

* Otitis medial with effusion * Hearing loss (usually temporary) * Perforated eardrum * Facial nerve palsy * Recurrent infection * Mastoiditis (rare) * Abscess (rare)

Answer 135

**Meningitis:** An important and life-threatening complication presenting with sepsis, headache, vomiting, photophobia, and phonophobia. **Sigmoid sinus thrombosis:** Patients present with sepsis, swinging pyrexia, and meningitis. **Brain abscess:** A patient will present with sepsis and neurological signs due to compression of cranial nerves.

Answer 136

Otitis Media **with effusion** or **Chronic secretory otitis media** The middle ear becomes full of fluid, causing a loss of hearing in that ear. The Eustachian tube connects the middle ear to the back of the throat. It helps drain secretions from the middle ear. When it becomes blocked, this causes middle ear secretions (fluid) to build up in the middle ear space.

Answer 137

* Reduction of hearing in that ear * Infection of the middle ear (Otitis media) * Persistent pain lasting several after the initial episode **Seconday Problems** * Speech and language delay * Behavioural delay

Answer 138

Otoscopy can show a **dull tympanic membrane with air bubbles or a visible fluid level** although it can look normal.

Answer 139

* Referral for audiometry to help establish the diagnosis and extent of hearing loss. * Glue ear is usually treated conservatively, and resolves **without treatment within 3 months** * Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate **may require hearing aids or grommets.**

Answer 140

* Tympanostomy Tubes (**Grommets** are tiny tubes inserted into the Tympanic membrane by and ENT surgeon. * They allow for fluid to drain from the middle ear through the tympanic membrane and into the ear canal. * Grommets usually **fall out within a year** and only 1/3 of patients require further grommets to be inserted for persistent glue ear.

Answer 141

* **Genetic Deafness:** autosomal recessive or autosomal dominant conditions. (eg. Pendred's Syndrome) * Maternal **rubella or CMV** infection during pregnancy * Associated syndromes: **Downs**

Answer 142

* Prematurity * Hypoxia during or after birth

Answer 143

* Jaundice * Meningitis and Encephalitis * Otitis media and Glue Ear * Chemotherapy

Answer 144

* Tests hearing in all neonates. * Uses **Otoacoustic emission test** * Can identify congenital hearing problems early.

Answer 145

* Picked up via NHSP **Parental Concerns about hearing or behavioural changes associated with not being able to hear:** * Ignoring calls or sounds * Frustration or bad behaviour * Poor speech and language development * Poor school performance

Answer 146

History and Physical Examination Otoscope **Audiometry Testing** * Newborn: Automated Otoacoustic emission test * Newborn and infants if emmission test abnormal: auditary brainstem response test * > 3 years: pure tone audiometry (school age)

Answer 147

**X-axis:** Frequency in Hertz (Hz) **Y-axis:** Volume in decibles (dB) **Hearing is tested to establish the minimum volume required for a patient to hear each frequency** **Normal Hearing:** all readings between 0 and 20 dB **Sensorineural hearing loss:** both air and bone conduction readings will be more than 20 dB, plotted below the 20 dB line on the chart. This may affect only one side, one side more than the other or both sides equally. **Conductive hearing loss:** bone conduction readings will be normal (between 0 and 20 dB), however air conduction readings will be greater than 20 dB, plotted below the 20 dB line on the chart. In conductive hearing loss, sound can travel through bones but is not conducted through air due to pathology along the route into the ear. **Mixed hearing loss:** both air and bone conduction readings will be more than 20 dB, however there will be a difference of more than 15 dB between the two (bone conduction > air conduction).

Answer 148

**Establishing diagnosis is the first step** **MDT Team input for support with hearing, speech, language and learning** * Speech and language therapy * Educational Psychology * ENT Specialist * Hearing aids for children who retain some hearing * Sign language

Answer 149

Orbital cellulitis is a **sight- and life-threatening emergency**. It describes infection of the structures (fat and muscles) behind the orbital septum around the eyeball.

Answer 150

An eyelid and skin infection in front of the orbital septum (not within the orbit). It presents with swollen, red, hot skin around the eyelid and eye.

Answer 151

Orbital cellulitis is less common than preseptal cellulitis, with the latter accounting for 80% of cases, mostly occurring in children under the age of 10.

Answer 152

* Childhood * Mean age of hospitalisation 7-12 years * Previous sinus infection * Lack of Haemophilus influenzae type b (Hib) vaccination * Recent eyelid infection/ insect bite on eyelid (periorbital cellulitis) * Ear or facial infection

Answer 153

The typical patient with preseptal cellulitis is a child with an erythematous swollen eyelid, mild fever and erythema surrounding the orbit.

Answer 154

* Periocular pain and swelling * Ophthalmoplegia/pain with eye movements * Fever * Malaise * Erythematous, swollen and tender eyelid * **Chemosis** * **Proptosis** * **Restricted eye movements +/– diplopia**

Answer 155

* No proptosis * Normal eye movements * No chemosis * Normal optic nerve function

Answer 156

**Blood tests:** FBC, CRP to screen for raised inflammatory markers **Clinical Ophthalmic Examination** **Swabs sent for microscopy, culture and sensitivity** **CT Sinus and Orbit with contrast is gold standard:** investigation to distinguish orbital cellulitis from preseptal cellulitis

Answer 157

Patients with orbital cellulitis require **admission for IV antibiotics and close monitoring with input from the ophthalmology, ENT and Medical teams** May require surgical drainage

Answer 158

* All cases should be referred to secondary care for assessment * Oral antibiotics are frequently sufficient - usually co-amoxiclav * Children may require admission for observation * **Vulnerable patients may require admission for monitoring in case of progression to Orbital cellulitis**

Answer 159

A "Squint" refers to the misalignment of the eyes. When they are not aligned the images on the retina do not match and the person experiences double vision.

Answer 160

* When this occurs in childhood, before the eyes have fully established their connections with the brain, the brain will cope with this misalignment by reducing the signal from the less dominant eye. * This results in one eye they use to see (the dominant eye) and one eye they ignore (the “lazy eye”). * If this is not treated, this “lazy eye” becomes progressively more disconnected from the brain and over time the problem becomes worse. * **This is called amblyopia.**

Answer 161

Squints due to differences in the control of the extra ocular muscles

Answer 162

Squints due to paralysis in one or more of the extra ocular muscles These are rare

Answer 163

The eyes are misaligned

Answer 164

The affected eye becomes passive and has reduced function compared to the other dominant eye

Answer 165

inward positioned squint (affected eye towards the nose)

Answer 166

outward positioned squint (affected eye towards the ear)

Answer 167

upward moving affected eye

Answer 168

downward moving affected eye

Answer 169

**Usually idiopathic** **Other causes of squint include:** * Hydrocephalus * Cerebral palsy * Space occupying lesions, for example retinoblastoma * Trauma

Answer 170

* General inspection * Eye movements * Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology * Visual acuity Examination Tests: * **Hirschberg's Test** * **Cover Test**

Answer 171

Shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea. The reflection should be central and symmetrical. Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates.

Answer 172

Cover one eye and ask the patient to focus on an object in front of them. Move the cover across to the opposite eye and watch the movement of the previously covered eye. If this eye moves inwards, it had drifted outwards when covered (exotropia) and if it moves outwards it means it had drifted inwards when covered (esotropia).

Answer 173

**Occlusive Patch:** Used to Cover the good eye and force the weaker eye to develop. **Atropine Drops:** In the good eye causing vision in that eye to become blurred and force the patient to use the other. **Management is coordinated by an Ophthalmologist**

Answer 174

Up until the age of 8 years the visual fields are still developing, therefore treatment needs to start before 8 years. The earlier the better. Delayed treatment increases the risk of the squint becoming permanent.

Answer 175

Febrile seizures are a type of seizure that occur in association with a fever, without evidence of intracranial infection or defined cause. These seizures are typically short-lived, lasting less than 15 minutes, and are tonic-clonic in nature.

Answer 176

* Febrile seizures are relatively common, affecting approximately 3% of children. * The seizures predominantly occur in **children aged between 6 months and 5 years.**

Answer 177

Febrile seizures occur due to an abrupt rise in body temperature, often related to an infection. Both viral and bacterial infections can trigger febrile seizures, with the most common infections including **upper respiratory tract infections, ear infections, and the common childhood exanthems**

Answer 178

**Simple Convulsion:** * Simple febrile convulsions are generalised, tonic clonic seizures. * They **last less than 15 minutes** * No recurrence within **24 hours** * Recovery < 1 hour **Complex Convulsion** * Consist of partial or focal seizures, * **last 15-30 minutes** * May occur **multiple times** during 24 hours * Recovery > 1 hour **Febrile Status Epilepticus** * Febrile Convulsion lasting >30 minutes

Answer 179

* High fever, often over 38°C * Tonic-clonic seizures, which might involve rhythmic jerking of arms and legs and loss of consciousness * Postictal drowsiness or confusion following the seizure

Answer 180

* **Meningitis:** presents with fever, headache, neck stiffness, and altered mental status * **Encephalitis:** symptoms include fever, headache, altered mental status, seizures, and neurological deficits * **Seizures due to electrolyte imbalances:** typically associated with altered mental status, muscle twitching or cramping, and fatigue * **Epilepsy:** recurrent seizures without a fever, can be accompanied by postictal confusion and fatigue * **Trauma:** Always consider non-accidental injury * **Syncopal Episode** * **Intracranial Space occupying lesions:** Brain tumours or haemorrhage

Answer 181

**Clinical Diagnoses** and Ix are often not needed Investigations to find underlying cause of Fever: **Bloods:** FBC, glucose, U&Es **Urine Dipstick** **Lumbar Puncture** **Electroencephalogram (EEG)**

Answer 182

* Identify source and manage fever with simple analgesia: **Paracetamol/Ibuprofen** * Instructions on appropriate use of antipyretics * Caution against prophylactic use of antipyretics * Advice against sponging the child to cool them down * Safety net advice should another seizure occur **Recurrent Febrile Convulsions may require Benzodiazepines Rescue medication**

Answer 183

* Stay with the child * Put the child in a safe place, for example on a carpeted floor with a pillow under their head * Place them in the recovery position and away from potential sources of injury * Don’t put anything in their mouth * Call an ambulance if the seizure lasts more than 5 minutes

Answer 184

They do not typically cause lasting damage. 2-7.5% risk of developing Epilepsy after a simple febrile convulsion 10-20% risk of developing Epilepsy after a complex febrile convulsion

Answer 185

**Infantile spasms** A rare type of childhood epilepsy starting in infancy at around 6 months of age which is characterised by clusters of full body "jack knife spasms".

Answer 186

the EEG shows **hypsarrhythmia** in two-thirds of infants * CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)

Answer 187

Vigabatrin is first line Prednisolone and ACTH may also be used!

Answer 188

Poor Prognosis. 1/3 die by age 25 however 1/3 are seizure free

Answer 189

Form of childhood epilepsy that typically occurs between the age of 4 and 12 years. **Seizures occur at night time** **EEG characteristically shows centrotemporal spikes**

Answer 190

* Lost developmental milestones * Not able to hold an object at 5 months * Not sitting unsupported at 12 months * Not standing independently at 18 months * Not walking independently at 2 years * Not running at 2.5 years * No words at 18 months * No interest in others at 18 months * Hand preference before 18 months

Answer 191

Refers to a child displaying slow development in 2 or more developmental domains. **Must remember that children develop at different rates and so there is a good amount of flexibility in the milestones**

Answer 192

* Gross motor * Fine motor and Vision * Speech, Language and Hearing * Personal and social

Answer 193

* Down’s syndrome * Fragile X syndrome * Foetal alcohol syndrome * Rett syndrome * Metabolic disorders

Answer 194

A developmental delay that is specific to the gross motor domain

Answer 195

* **Cerebral palsy** * **Duchenne Muscular Dystrophy** * Ataxia * Myopathy * Spina bifida * Visual impairment

Answer 196

A developmental delay that is Specific to the Fine Motor Domain such as writing and drawing

Answer 197

* Dyspraxia * Cerebral palsy * Muscular dystrophy * Visual impairment * Congenital ataxia (rare)

Answer 198

A developmental delay that is specific to the speech and language domain

Answer 199

* Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking * Hearing impairment * Learning disability * Neglect * Autism * Cerebral palsy

Answer 200

A developmental delay that is specific to the personal and social domain such as playing with children

Answer 201

* Emotional and social neglect * Parenting issues * Autism

Answer 202

Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth.

Answer 203

In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. It is normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well this is not a problem, however it can be upsetting for parents. This usually improves as they grow and 90% of infants stop having reflux by 1 year.

Answer 204

**Most babies will have some Reflux** Sometimes the reflux may increase and cause the baby distress leading to: * Chronic cough * Hoarse cry * Distress, crying or unsettled after feeding * Reluctance to feed * Pneumonia * Poor weight gain * Vomiting **Children over 1 year may experience similar symptoms to adults with GORD such as heart burn, acid regurgitation, chest pain, nocturnal cough and bloating**

Answer 205

* Overfeeding * Gastro-oesophageal reflux * Pyloric stenosis (projective vomiting) * Gastritis or gastroenteritis * Appendicitis * Infections such as UTI, tonsillitis or meningitis * Intestinal obstruction * Bulimia

Answer 206

* **Not keeping down any feed:** pyloric stenosis or intestinal obstruction * **Projectile or forceful vomiting:** pyloric stenosis or intestinal obstruction * **Bile stained vomit:** intestinal obstruction * **Haematemesis or melaena:** peptic ulcer, oesophagitis or varices * **Abdominal distention:** intestinal obstruction * **Reduced consciousness, bulging fontanelle or neurological signs:** meningitis or raised intracranial pressure * **Respiratory symptoms:** aspiration and infection * **Blood in the stools:** gastroenteritis or cows milk protein allergy * **Signs of infection:** pneumonia, UTI, tonsillitis, otitis or meningitis * **Rash, angioedema and other signs of allergy:** cows milk protein allergy * **Apnoea's are a concerning feature:** May indicate serious underlying pathology and need urgent assessment

Answer 207

**Usually a clinical diagnosis and no Ix needed** May use: * Barium Meal * Endoscopy * Fundoplication

Answer 208

**First-line management includes: reassurance and practical advice, such as:** * Small, frequent meals * Burping regularly to help milk settle * Not over-feeding * Keep the baby upright after feeding (i.e. not lying flat) **Further management, if still bothersome, include:** * Gaviscon mixed with feeds * Thickened milk or formula (specific anti-reflux formulas are available) * Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate

Answer 209

This is a rare condition causing **brief episodes of abnormal movements associated with gastro-oesophageal reflux** in infants. The infants are usually neurologically normal. The key features are: * **Torticollis:** forceful contraction of the neck muscles causing twisting of the neck * **Dystonia:** abnormal muscle contractions causing twisting movements, arching of the back or unusual postures

Answer 210

Condition tends to resolve as the reflux is treated or improves. Generally a good outcome Differentials include more serious conditions such as infantile spasms (West Syndrome) and Seizures

Answer 211

Hypertrophy of the Pyloric Sphincter causing narrowing of the gastric outlet leading to gastric outlet obstruction.

Answer 212

* The pyloric sphincter is a ring of smooth muscle the forms the canal between the stomach and the duodenum. * Hypertrophy (thickening) and therefore narrowing of the pylorus is called pyloric stenosis. This prevents food traveling from the stomach to the duodenum as normal. * After feeding, there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. * Eventually it becomes so powerful that it ejects the food into the oesophagus, out of the mouth and across the room. This is called “projectile vomiting”.

Answer 213

Incidence: Affects 1-3 per 1000 live births. Age: Predominantly presents in **infants aged 6-8 weeks old.** Gender: It is more prevalent in **males** compared to females.

Answer 214

**Multifactorial** * **Genetics:** Pyloric stenosis can run in families and is more common in children of parents who had the condition. * **Gender:** Males are more frequently affected. * **Prematurity:** Infants born prematurely have a higher risk of pyloric stenosis.

Answer 215

* **Post Prandial Vomiting:** Projectile in nature that occurs roughly 30mins after feeds. * **Palpable mass:** During or after feeding, a firm round mass can be felt in the upper abdomen that feels like a large smooth olive. This is the Hypertrophied Pyloric Sphincter * **Hypokalaemic, Hypochloraemic Metabolic Alkalosis:** Baby is vomiting hydrochloric acid from the stomach which is causing a metabolic Alkalosis. Other: * Weight loss and failure to thrive * Constipation * Visible Peristalsis

Answer 216

* **Gastroenteritis:** Presents with diarrhoea, vomiting, and fever, but lacks a palpable abdominal mass. * **GORD (Gastroesophageal reflux disease):** Characterised by vomiting, poor weight gain, and irritability but lacks projectile vomiting and palpable mass. * **Infantile colic:** Presents with crying and fussiness, usually without vomiting.

Answer 217

* **Metabolic Alkalosis:** Persistent vomiting may result in loss of gastric acid, leading to a hypochloremic, hypokalemic metabolic alkalosis. * **Dehydration:** Persistent vomiting can also lead to severe dehydration.

Answer 218

**Abdominal Ultrasound:** Visualise the hypertrophic pyloric sphincter. A hypertrophied muscle with a **length of >16-18mm** and a muscle **wall thickness of >3-4mm** are indicative of pyloric stenosis. Other: **ABG:** May show hypochloraemic, hypokalaemia metabolic alkalosis

Answer 219

Immediate supportive care and definitive surgical intervention: **Supportive Care:** The infant should be kept nil-by-mouth and administered IV fluids. Infants with severe dehydration may require acute fluid resuscitation. **Definitive Surgical Intervention:** A **pyloromyotomy (Ramstedt's procedure)** is performed to cut the hypertrophic pyloric sphincter, thereby widening the gastric outlet.

Answer 220

A common, chronic gastrointestinal disorder characterized by abdominal pain or discomfort associated with altered bowel habits, without any identifiable structural or biochemical abnormalities.

Answer 221

IBS is a commonly occurring condition, affecting approximately 10-20% of adults worldwide.

Answer 222

It is considered a multifactorial condition, potentially involving genetic predisposition, altered gut microbiota, low-grade inflammation, and abnormalities in the gut-brain axis.

Answer 223

* Abdominal discomfort or pain **relieved by defaecation** * Altered bowel frequency or stool * Altered stool passage * Abdominal bloating * Passage of mucus * Symptoms worsened by eating * Lethargy * Nausea * Backache

Answer 224

The **Manning criteria** for diagnosis of IBS includes: **Abdominal discomfort or pain relieved by defecation OR associated with altered bowel frequency or stool form** **At least two of the following:** * Altered stool passage (e.g., straining or urgency) * Abdominal bloating * Symptoms worsened by eating * Passage of mucus Physical Examination and other investigations will reveal **No abnormalities**

Answer 225

* **Inflammatory Bowel Disease (IBD):** Symptoms may include bloody diarrhea, weight loss, and fever. * **Coeliac Disease:** Symptoms may include diarrohea, weight loss, and anemia. * **Colorectal Cancer:** Symptoms may include rectal bleeding, weight loss, and changes in bowel habits.

Answer 226

**Investigations to rule out other causes of symptoms** * Faecal calprotectin (raised in IBD, not IBS) * Full Blood Count, ESR and CRP: also raised in IBD, not IBS * Coeliac serology

Answer 227

* **Dietary and lifestyle modifications:** Including regular exercise, stress management, and dietary changes (**such as low-FODMAP diet**). * **Psychotherapy:** Cognitive-behavioral therapy, hypnotherapy, and mindfulness-based therapy can be beneficial. * **Pharmacotherapy:** Medications such as antispasmodics, laxatives, or anti-diarrheal agents may be used depending on the predominant symptoms.

Answer 228

Inflammation of the stomach that presents with nausea and vomiting

Answer 229

Inflammation of the Intestines that presents with Diarrhoea

Answer 230

Inflammation of the stomach and intestines that presents with nausea, vomiting and diarrhoea.

Answer 231

Common world wide and can affect individuals of all age groups. Very common in children

Answer 232

Viral causes: * Rotavirus: Most common cause of **infantile gastroenteritis** * Norovirus: Most common cause of **gastroenteritis across all ages** * Adenovirus: Often causes respiratory infections but can cause gastroenteritis **particularly in children**

Answer 233

* Campylobacter **Most common bacterial cause of Gastroenteritis world wide** * Staphylococcus aureus: Found in cooked meats and cream products * Bacillus cereus: Primarily associated with **reheated rice** * Clostridium perfringens: Commonly found in reheated meat dishes or cooked meats * E.coli, including E.coli 0157 (which can cause haemolytic uraemic syndrome) * Salmonella * Shigella

Answer 234

Cryptosporidium Entamoeba histolytica Giardia intestinalis Schistosoma

Answer 235

**Nausea and Vomiting and Diarrhoea** Systemic Symptoms: * Malaise * Fever

Answer 236

* Inflammatory bowel disease * Lactose intolerance * Coeliac disease * Cystic fibrosis * Toddler’s diarrhoea * Irritable bowel syndrome * Medications (e.g. antibiotics)

Answer 237

**Clinical Diagnosis** * Stool cultures and Microscopy to identify causative pathogen

Answer 238

* **Good Hygeine** * **Isolation and barrier nursing** * Children to stay off school **until 48 hours after symptoms have completely resolved** * **Fluid replacement/challenge** * **Antibiotics:** only be given in patients that are at risk of complications once the causative organism is confirmed.

Answer 239

* Systemically unwell patients * Immunosuppressed individuals * The elderly

Answer 240

Ciprofloxacin

Answer 241

Macrolides: Erythromycin **Clarithromycin may lead to C.diff infection**

Answer 242

Tetracycline

Answer 243

* Abrupt onset * Occurs 24-48 hours post inoculation * Condition is typically self limiting * May lead to pre-renal AKI in frail patients

Answer 244

Dehydration

Answer 245

* Lactose intolerance * Irritable bowel syndrome * Reactive arthritis * Guillain–Barré syndrome

Answer 246

A clinical condition wherein the child defaecates **fewer than three times per week, or experiences significant difficulty** in passing stool. Chronic constipation in this population is often characterised by hard, pellet-like stool that is difficult to pass.

Answer 247

Constipation in children is a common occurrence. The frequency varies with the child's diet and lifestyle.

Answer 248

Idiopathic or Functional Constipation: No significant underlying cause other than lifestyle factors: * Low Fibre Diet * Avoidance of using the toilet * Poor fluid intake/dehydration * Sedentary lifestyle * Habitually not opening bowels * Psychosocial problems: Difficult home or school environment.

Answer 249

* Hirschsprung’s disease * Cystic fibrosis (particularly meconium ileus) * Hypothyroidism * Spinal cord lesions * Sexual abuse * Intestinal obstruction * Anal stenosis * Cows milk intolerance

Answer 250

* **Less than 3 stools a week** * **Hard stools that are difficult to pass: Rabbit dropping stools** * **Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools** * Straining and painful passages of stools * Abdominal pain * Holding an abnormal posture, referred to as **retentive posturing** * Rectal bleeding associated with hard stools * Hard stools may be palpable in abdomen * Loss of the sensation of the need to open the bowels

Answer 251

**Faecal Incontinence** * Not considered pathological until >4 years of age. * Sign of chronic constipation where the rectum becomes stretched and looses sensation. * Causes overflow diarrhoea as hard stools cannot pass but loose stools bypass the blockage and leak out causing soiling.

Answer 252

* Spina bifida * Hirschprung’s disease * Cerebral palsy * Learning disability * Psychosocial stress * Abuse

Answer 253

* **Hirschsprung's disease:** Presents with a delay in passing meconium (>48 hours), a distended abdomen, forceful evacuation of meconium after digital rectal examination, and a history of chronic constipation with poor response to Movicol disimpaction regimens and poor weight gain. * **Irritable Bowel Syndrome (IBS):** May cause chronic constipation and is associated with abdominal pain, bloating, and altered bowel habit. Pain is typically relieved by defecation. * **Hypothyroidism:** Can lead to constipation, along with other symptoms such as weight gain, fatigue, cold intolerance, and slow growth in children. * **Celiac Disease:** While more commonly associated with diarrhoea, it can sometimes cause constipation. Other symptoms include failure to thrive, abdominal pain, and bloating. * **Lead poisoning:** Constipation is one of the symptoms along with learning difficulties, irritability, loss of developmental skills in children, and possibly anaemia. * **Anal fissure:** Pain during and after bowel movements can lead to constipation due to the child's fear of experiencing pain again. * **Functional constipation:** Characterized by normal anorectal and colonic physiology but passage of hard stools, infrequent stools, or painful defecation. * **Neurological disorders:** like Spina Bifida and Cerebral Palsy. These conditions may impact the nerves that control bowel function, leading to constipation.

Answer 254

* Often patients develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. * Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. * They retain faeces in their rectum which leads to **faecal Impaction** * Over time the rectum stretches as it fills with more and more faeces. This leads to **further desensitisation of the rectum** * The longer this goes on the harder it is to reverse and treat

Answer 255

* **Not passing meconium within 48 hours of birth:** cystic fibrosis or Hirschsprung’s disease * **Neurological signs or symptoms:** particularly in the lower limbs (cerebral palsy or spinal cord lesion) * **Vomiting:** intestinal obstruction or Hirschsprung’s disease * **Ribbon stool:** anal stenosis * **Abnormal anus:** anal stenosis, inflammatory bowel disease or sexual abuse * **Abnormal lower back or buttocks:** spina bifida, spinal cord lesion or sacral agenesis * **Failure to thrive:** coeliac disease, hypothyroidism or safeguarding * **Acute severe abdominal pain and bloating:** obstruction or intussusception

Answer 256

**Clinical diagnosis through history and examination** * May palpate impacted faeces on abdominal exam

Answer 257

* Correct any reversible contributing factors, recommend a high fibre diet and good hydration * Start laxatives: **Movicol is first line** * Faecal impaction may require a **disimpaction regimen** with high doses of laxatives at first * Encourage and praise visiting the toilet. This could involve **scheduling visits, a bowel diary and star charts.** * Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.

Answer 258

inflammation of the appendix

Answer 259

Appendicitis is a common condition, particularly in populations with a Western diet. ** Peak incidence is 10-20 years** It is estimated to affect approximately one-sixth of individuals in the United Kingdom during their lifetime.

Answer 260

An obstruction within the appendix from various factors: Fibrous tissue, foreign body, faecolith

Answer 261

* The inflammation can quickly proceed to gangrene and rupture. * The appendix can rupture and release faecal content and infective material into the abdomen. * This leads to peritonitis, which is inflammation of the peritoneal contents * May lead to Sepsis

Answer 262

Symptoms: * **Pain:** Acute appendicitis manifests as progressively worsening **periumbilical pain, which typically migrates to the right iliac fossa.** * **Gastrointestinal symptoms:** These include nausea, vomiting, anorexia, and changes in bowel habits, such as constipation or diarrhoea. * **Systemic features:** Patients may exhibit signs of infection, such as fever and tachycardia. Signs: * **McBurney's Point Tenderness:** located one-third of the way from the anterior superior iliac spine to the umbilicus, may be particularly tender. * **Rovsing's sign:** eliciting right iliac fossa pain with palpation of the left iliac fossa, may also be present. * **Guarding** on abdominal palpation * **Psoas sign:** pain with passive extension of the right thigh * **Obturator sign:**pain with passive internal rotation of the right hip

Answer 263

* **Rebound tenderness** is increased pain when quickly releasing pressure on the right iliac fossa * **Percussion tenderness** is pain and tenderness when percussing the abdomen

Answer 264

* **Renal calculi:** Signs and symptoms include severe pain in the back or side below the ribs, pain that radiates to the lower abdomen and groin, haematuria, nausea, vomiting, and frequent urination. * **Biliary disease:** Symptoms may encompass severe abdominal pain, jaundice, nausea, vomiting, and fever. * **Bowel obstruction:** Persistent vomiting, severe abdominal pain, bloating, inability to pass gas or stool, and constipation are key indicators. * **Gastroenteritis:** This condition can present with nausea, vomiting, diarrhoea, abdominal cramping, and sometimes fever. * **Ectopic pregnancy:** Symptoms include lower abdominal pain, often unilateral, vaginal bleeding, and symptoms of pregnancy. * **Pelvic Inflammatory Disease:** Lower abdominal pain, increased vaginal discharge, irregular menstrual bleeding, pain during intercourse, fever, and pain during pelvic examination are commonly seen. * **Meckel's diverticulum:** Pain may mimic appendicitis. It can also cause gastrointestinal bleeding or intestinal obstruction. * **Urinary tract infection:** Common symptoms are dysuria, frequency, urgency, suprapubic pain, and haematuria. * **Mesenteric adenitis:** This condition can mimic appendicitis and typically presents with right-sided abdominal pain, fever, and sometimes diarrhoea. * **Diverticulitis:** Symptoms can be similar to appendicitis but the pain is usually on the left side. It can also present with change in bowel habits, fever, nausea, and vomiting. * **Ovarian torsion:** This presents with sudden onset lower abdominal pain, often associated with nausea and vomiting. There may be a history of previous similar episodes. Pain can be intermittent if the ovary detorts spontaneously. * **Ovarian cyst :** An ovarian cyst may present with lower abdominal pain, which can be sharp or dull. If the cyst ruptures or causes ovarian torsion, the pain can be severe. There may be associated bloating, feeling full quickly when eating, or difficulty eating. * **Cholecystitis:** This condition typically presents with right upper quadrant abdominal pain, which may radiate to the right shoulder. Pain is often associated with meals (especially fatty foods), and there may be associated nausea, vomiting, and fever. * **Perforated peptic ulcer:** This condition typically presents with sudden onset severe abdominal pain, which is generalized rather than localized. The abdomen is usually rigid (‘board-like’) on examination.

Answer 265

**Bedside:** * VBG to check lactate levels * **Pregnancy test** (urine hCG) should be done in all females of reproductive age presenting with an acute abdomen * A urine dip may show the presence of leukocytes, indicative of appendicitis **Laboratory:** * FBC for white cell count to identify signs of infection * CRP to detect inflammation * U&Es to assess renal function if dehydration is suspected * LFTs and amylase to rule out biliary differentials * Clotting, G&S for theatre * Blood cultures if sepsis is suspected **Imaging:** * Abdominal Ultrasound: In children or pregnant women * Erect chest x-ray to rule out perforation * CT of the abdomen and pelvis or ultrasound of the right iliac fossa (RIF) for further evaluation **It is important to note that imaging is generally only utilised when there is doubt about the diagnosis or to rule out differentials. As acute appendicitis is primarily a clinical diagnosis, if suspected, the patient should be sent to the operating theatre without unnecessary delay for imaging.**

Answer 266

**CT Abdomen and Pelvis** **Use ultrasound for children and pregnant women due to radiation**

Answer 267

* Administer **prophylactic antibiotics**; initiate full septis 6 if appropriate * **Laparoscopic appendicectomy is 1st line management** * If there is **evidence of perforation:** open appendicectomy is preferred, with copius lavage in theatre* As per NICE guidelines, if there is **negative imaging, a non-operative management strategy with IV fluids and antibiotics** can be a safe and effective approach in selected patients with uncomplicated acute appendicitis

Answer 268

* Local abscess formation * Perforation * Gangrene * Postoperative wound infection * Peritonitis

Answer 269

* Bleeding, infection, pain and scars * Damage to bowel, bladder or other organs * Removal of a normal appendix * Anaesthetic risks * Venous thromboembolism (deep vein thrombosis or pulmonary embolism)

Answer 270

Crohn's Disease Ulcerative Colitis

Answer 271

chronic relapsing inflammatory bowel disease (IBD). It is characterised by a **transmural granulomatous inflammation** which **can affect any part of the gastrointestinal tract**

Answer 272

Ileum, Colon or both

Answer 273

* More common in northern climates and developed countries * **Bimodal Age of Onset:** 15-40 years and 69-80 years * Common in **Caucasian and Ashkenazi Jews**

Answer 274

* Family History: **NOD2 mutation** * Caucasian, Ashkenazi Jews * Female * NSAIDS * Depression * HLA-B27 * Smoking * Chronic Stress

Answer 275

**N**o blood or mucus (these are less common in Crohns.) **E**ntire GI tract **S**kip lesions” on endoscopy **T**erminal ileum most affected and Transmural (full thickness) inflammation **S**moking is a risk factor (don’t set the nest on fire) **Crohn’s is also associated with weight loss, strictures and fistulas.**

Answer 276

**Symptoms:** * Crampy Abdominal Pain often in RLQ (ileum area) * Nausea and Vomiting * Diarrhoea * Weight Loss and Malabsorption * Fever and fatigue **Signs:** * Cachectic and Pale: due to anaemia * Aphthous mouth ulcers * Perianal skin tags, fistulae, abscess

Answer 277

**A**rthritis (often asymmetrical and non-deforming) **P**yoderma Gangrenosum **I**ris: Anterior uveitis, Episcleritis **E**rythema Nodosum **S**acroileitis (Anklylosing Spondylosis) and Sclerosing Cholangitis **A**pthous Mouth Ulcers **C**lubbing

Answer 278

**Blood Tests:** * FBC: raised WCC * CRP/ESR Raised * Thrombocytosis * Anaemia * Low albumin, iron, B12 and folate (secondary to Malabsorption) **Stool Sample:** * **Faecal Calprotectin:** 90% sensitive and specific for IBD **Imaging:** * **Endoscopy** (OGD and Colonoscopy): **with Biopsy is the gold standard investigation for diagnosis of IBD** * Abdominal X-ray: rule out **Toxic Megacolon** in UC

Answer 279

Endoscopy **AND** biopsy: OGD or Colonoscopy

Answer 280

* Intermittent inflammation ('skip lesions') * Cobblestone mucosa (due to ulceration and mural oedema) * Rose-thorn ulcers (due to transmural inflammation), ± fistulae or abscesses. * Non-caseating granulomas

Answer 281

* Colonoscopy will reveal **continuous inflammation** with an erythematous mucosa, loss of haustral markings, and pseudopolyps. * Biopsy will reveal **loss of goblet cells, crypt abscess**, and inflammatory cells (predominantly lymphocytes)

Answer 282

**1st Line:** Steroid Monotherapy (Oral prednisolone, IV hydrocortisone) **2nd Line:** Addition of Immunosuppressant if there are 2 or more exacerbations in a 12 month period. * Azathiprine * Mercaptopurine * Methotrexate (may be used if patients do not tolerate the above or are TMPT deficient) **3rd Line:** Biological agents ae recommended in patients with severe disease who fail to respond to the above * Infliximab * Adalimumab

Answer 283

**1st Line:** Immunosuppressants **(Azathioprine or Mercaptopurine)** **Alternatives:** * Methotrexate * Infliximab * Adalimumab

Answer 284

Surgery is rarely curative in Crohn's disease and so should be maximally conservative Surgical options only really used when the disease **only affects the distal ileum** or to treat complications (**strictures and fistulas**)

Answer 285

* Peri-anal Abscess * Anal Fissure * Anal Fistula * Strictures and obstruction * Perforation and Sepsis * Anaemia and Malabsorption * Osteoporosis

Answer 286

Ulcerative colitis (UC) is a chronic relapsing-remitting inflammatory disease that **primarily affects the large bowel.**

Answer 287

* Most commonly diagnosed IBD. * **Bimodal age of Onset:** 15-25 years and 55-65 years * Can develop at **any age**

Answer 288

Unknown Cause: Multifactorial * Genetic predisposition (HLA-B27) * Environmental factors * Dysregulation of immune system (autoimmune conditions)) * **Non/Ex smoker**

Answer 289

**C**ontinuous inflammation **L**imited to colon and rectum **O**nly superficial mucosa affected **S**moking is protective **E**xcrete blood and mucus **U**se aminosalicylates **P**rimary sclerosing cholangitis

Answer 290

The main symptoms of UC are gastrointestinal and systemic. **Gastrointestinal symptoms include:** * Diarrhoea often containing **blood and/or mucus** * Tenesmus or urgency * Pain in the left iliac fossa **Systemic symptoms include:** * Weight loss * Fever * Pallor and fatigue: due to anaemia * Clubbing

Answer 291

Primary Sclerosing Cholangitis

Answer 292

Truelove and Witt's Severity Index:

Answer 293

* **Crohn's disease:** Abdominal pain, weight loss, diarrhoea, oral ulcers, anal fissures, and perianal fistulas. * **Infectious colitis:** Acute onset of diarrhoea, fever, and abdominal pain. May be associated with recent antibiotic use, travel, or consumption of contaminated food or water. * **Ischemic colitis:** Sudden onset of abdominal pain, blood in stools, and a history of vascular disease or risk factors.

Answer 294

**Mild to moderate disease** * First line: aminosalicylate (e.g. mesalazine oral or rectal) * Second line: corticosteroids (e.g. prednisolone) **Severe disease** * First line: IV corticosteroids (e.g. hydrocortisone) * Second line: IV ciclosporin **Maintaining Remission** * Aminosalicylate (e.g. mesalazine oral or rectal) * Azathioprine

Answer 295

**1st Line:** **Aminosalicylate** (Mesalazine oral or rectal) **Alternatives:** * Azathioprine * Mercaptopurine

Answer 296

Ulcerative colitis usually only affects the colon and rectum. * **Panproctocolectomy:** removing the colon and rectum * Patient is left with either a permanent **ileostomy** * **Colectomy:** with temporary End ileostomy (**ileo-anal anastomosis (J pouch)**)

Answer 297

* Failure to induce remission via medical means

Answer 298

**Short-term/acute complications** * **Toxic megacolon:** this describes a severe form of colitis, and is seen in around 15% of ulcerative colitis patients. * **Massive lower gastrointestinal haemorrhage:** this occurs in up to 3% of patients. **Long-term complications:** * **Colorectal cancer:** this occurs in 3-5% of patients. There is a higher risk with disease duration, severity and extent of colitis, and concomitant primary sclerosing cholangitis (PSC). **NICE guidance suggests offering colonoscopy surveillance to high risk patients.** * **Cholangiocarcinoma:** ulcerative colitis approximately doubles the risk of cholangiocarcinoma. * **Colonic strictures:** these can cause large bowel obstruction. **Variable-term complications** * **Primary Sclerosing Cholangitis:** this is characterised by inflammation and fibrosis of the extra- and intra-hepatic biliary tree and affects 3-7% of patients with ulcerative colitis. LFTs should be monitored yearly to check for the presence of PSC. * **Inflammatory pseudopolyps:** these are areas of normal mucosa between areas of ulceration and regeneration.

Answer 299

A **T cell-mediated inflammatory autoimmune** condition where exposure to gluten causes an immune reaction that creates inflammation in the small intestine. It occurs when sensitivity to prolamin (**Gluten**), a group of plant storage proteins, results in villous atrophy in the lining of the small intestine and malabsorption.

Answer 300

* Affects approximately 1% of the Global Population * Affects Females more commonly (**Female:Male 2:1**) * **Bimodal Age of Onset:** Infancy or 50-60 years old

Answer 301

* Family History of the **HLA-DQ2** allele **Associated Conditions** * Type 1 diabetes * Thyroid disease * Autoimmune hepatitis * Primary biliary cirrhosis * Primary sclerosing cholangitis * Down’s syndrome

Answer 302

* **Anti-tissue Transglutaminase (anti-TTG)** * Anti-Endomysial (anti-EMA)

Answer 303

Small Bowel **particularly the Jejunum**

Answer 304

**Often Asymptomatic** **Gastrointestinal Symptoms:** * Abdominal pain * Distension * Nausea and vomiting * Diarrhoea * Steatorrhoea (bolded to signify severe disease) **Systemic Symptoms:** * Fatigue * Signs of vitamin deficiency: Easy bruising (Vit K), Neurological signs (Vit B12) * **Weight loss or failure to thrive in children** * **Dermatitis herpetiformis** * Anaemia: secondary to Iron, B12 or Folate Deficiency

Answer 305

* **Irritable bowel syndrome:** Characterised by recurrent abdominal pain, bloating, and altered bowel habits. * **Inflammatory bowel disease:** Characterised by abdominal pain, diarrhoea, rectal bleeding, weight loss, and fever. * **Lactose intolerance:** Symptoms include bloating, diarrhoea, and abdominal cramps after consumption of lactose-containing foods.

Answer 306

**Stool cultures:** Rule out infection **Basic Blood Tests:** FBC, U&E, LFT, Vitamin D, B12, Folate and Iron **Put patient on a Gluten challenge diet for 6 weeks:** Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease specific antibodies: * Raised anti-TTG antibodies (first choice) * Raised anti-endomysial antibodies **Endoscopy and intestinal biopsy show:** * “Crypt hypertrophy” * "Villous atrophy”

Answer 307

**Oesophagealgastroduodenoscopy + Biopsy** * Raised intraepithelial lymphocytes * Crypt Hypertrophy * Villous Atrophy

Answer 308

**Marsh Classification:** **0:** normal **1:** raised intra epithelial lymphocytes (IEL) **2:** raised ILE + crypt hyperplasia **3a:** partial villous atrophy (PVA) **3b:** subtotal villous atrophy (SVA) **3c:** total villous atrophy (TVA)

Answer 309

* Type 1 Diabetes Mellitus * Thyroid Disease * Autoimmune Hepatitis * PBC & PSC * Down's Syndrome

Answer 310

**Lifelong Gluten Free Diet**

Answer 311

Vitamin deficiency Anaemia (Vit b12, folate def) Hyposplenism Osteoporosis Ulcerative jejunitis Enteropathy-associated T-cell lymphoma (EATL) of the intestine Non-Hodgkin lymphoma (NHL) Small bowel adenocarcinoma (rare)

Answer 312

Poor physical growth and development in a child seen as a drop of 2 centiles on growth charts

Answer 313

A fall in weight across: * **One** or more centile spaces if their birthweight was **below the 9th centile** * **Two** or more centile spaces if their birthweight was **between the 9th and 91st centile** * **Three** or more centile spaces if their birthweight was **above the 91st centile**

Answer 314

Anything that leads to inadequate energy and nutrition: * Inadequate Nutritional Intake * Difficulty Feeding * Malabsorption * Increased Energy Requirements * Inability to Process Nutrition

Answer 315

* Maternal malabsorption if breastfeeding * Iron deficiency anaemia * Family or parental problems * Neglect * Availability of food (i.e. poverty)

Answer 316

* Poor suck, for example due to cerebral palsy * Cleft lip or palate * Genetic conditions with an abnormal facial structure * Pyloric stenosis

Answer 317

* Cystic fibrosis * Coeliac disease * Cows milk intolerance * Chronic diarrhoea * Inflammatory bowel disease

Answer 318

* Hyperthyroidism * Chronic disease, for example congenital heart disease and cystic fibrosis * Malignancy * Chronic infections, for example HIV or immunodeficiency

Answer 319

* Inborn errors of metabolism * Type 1 diabetes

Answer 320

Assessment done to establish the cause: * History and Examination * Pregnancy, birth, developmental and social history * Feeding or eating history * Observe feeding * Mums physical and mental health * Parent-child interactions * Height, weight and BMI (if older than 2 years) and plotting these on a growth chart * Calculate the **mid-parental height** centile

Answer 321

**Feeding History:** * Breast or bottle feeding * Feeding times * Volume and Frequency * Difficulties feeding **Eating History:** * Food choices * Food Aversion * Meal time routines * Appetite

Answer 322

* Height more than 2 centile spaces below the mid-parental height centile * BMI below the 2nd centile

Answer 323

* Urine Dipstick for UTI * Coeliac Screen (Anti-TTG/EMA antibodies) **Further investigations are usually not necessary if there are no other clinical concerns**

Answer 324

**MDT Input** * Regular reviews to monitor weight gain (too frequent may increase parental anxiety) * Aim to provide options to resolve the underlying problem causing the failure to thrive. **Address Breast Feeding problems** **Address inadequate nutrition problems**

Answer 325

**Breastfeeding Issues** * Breast feeding support from midwives, peer groups, lactation consultants * Supplement with formula milk **Inadequate Nutrition** * Encouraging regular structured mealtimes and snacks * Reduce milk consumption to improve appetite for other foods * Review by a dietician * Additional energy dense foods to boost calories * Nutritional supplements drinks

Answer 326

A type of Severe acute **Oedematous malnutrition** specifically due to **protein deficiency** that typically occurs in children around the time of weaning and up to 5 yeas of age in developing countries.

Answer 327

A type of Severe acute deficiency of **All nutrients** that **leads to muscle wasting and is without oedema**

Answer 328

The presence of severe wasting in addition to oedema due to a combination of all nutrient deficiency due to Marasmus and added protein deficiency due to Kwashiorkor

Answer 329

* **almost solely** found in developing countries * Sub-Saharan Africa, South East Asia, Central America * Occurs in children living in areas with endemic food insecurity or famine * Children often **<5 years old**

Answer 330

Unknown but thought to be due to Protein deficiency * Associated with cultures who's diets are based on Corn or Cassava.

Answer 331

* **Oedematous Malnutrition** (Often Central oedema) * Anaemia * Skin Lesions: Hyperkeratosis and skin depigmentation * Hepatosteatosis * **Wasting (often muscle) is seen in Marasmus**

Answer 332

**Clinical Diagnosis** Specific investigations are generally unnecessary for the vast majority of children and are only required to look for underlying co-existing conditions, to exclude other differentials of oedema, and to assess complications. **Other Investigations:** * Bloods: Anaemia and protein profile * TB skin testing * HIV Serology

Answer 333

* Marasmus * Chronic Undernutrition * Congestive Heart Failure * Glomerulonephritis

Answer 334

**Uncomplicated:** Can be treated at home with ready to use therapeutic food (RUTF) **Complicated:** A life threatening condition and requires stabilisation in an inpatient facility to be treated

Answer 335

**Uncomplicated:** * Community based therapy with **Ready to use therapeutic food (RUTF)** * Oral Antibiotics: as sepsis is likely a co-morbidity **Complicated:** * Facility based care with **Regular milk based liquid foods** * Empirical antibiotic therapy as sepsis occurs in 15-60% of children with severe malnutrition. * Vitamin supplementation should be considered

Answer 336

Malnutrition without Oedema but: * A weight for a **height/length Z-score of <-3** or * Mid-upper arm circumference (MUAC) < 11.5cm

Answer 337

* Sepsis * Micronutrient deficiencies * Shock * Dehydration * Hypoglycaemia * Electrolyte imbalance * Hypothermia * Anaemia

Answer 338

* Growth Stunting * Loss of Vision due to loss of Vitamin A

Answer 339

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum leading to an inability for peristalsis to occur and for food to pass along its length of the bowel.

Answer 340

* 90% present in the neonatal period * Average age of Presentation: **2 Days** * Affects males more commonly than females (3:1 M:F) * Associated with Down's Syndrome

Answer 341

* Parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon * Developmental failure of the parasympathetic Auerbach and Meissner plexuses * Uncoordinated peristalsis * Functional obstruction * Bacteria can build up leading to Enterocolitis and sepsis **When the entire colon is affected this is called total colonic aganglionosis**

Answer 342

**Short Segment** where the disease is confined to the rectosigmoid part of the colon

Answer 343

* Down's Syndrome * Neurofibromatosis * Waardenburg Syndrome * Multiple Endocrine Neoplasia Type II

Answer 344

**Presentation and age of diagnosis varies depending on individual and extent of bowel affected. May present acutely after birth or more gradually developing symptoms.** * Delay in passing Meconium (> 24 hours) * Chronic Constipation since birth * Abdominal pain and distension * Bilious Vomiting * Poor weight gain and failure to thrive

Answer 345

**Hirschsprung-Associated Enterocolitis (HAEC)** * Inflammation and obstruction of the intestine occuring in 20% of neonates with Hirschsprung's disease

Answer 346

* 2-4 weeks following birth * Fever, Abdominal distension, Diarrhoea (often bloody) and features of sepsis. * Can lead to **toxic Megacolon and perforation**

Answer 347

* Urgent Antibiotics, * Fluid resuscitation * Decompression of the obstructed bowel.

Answer 348

**First Line: Abdominal X-ray:** Can diagnose intestinal obstruction and features of HAEC **Gold Standard: Rectal Suction Biopsy:** Bowel histology demonstrates an absence of ganglionic cells.

Answer 349

To test for Hirschsprung's disease in anyone who has: * Delayed passage of Meconium * Constipation in first few weeks of life * Chronic Abdominal distension * Positive family history of Hirschsprung's * Faltering Growth

Answer 350

**Initial management to manage obstruction** * Fluid resuscitation * Rectal washouts/bowel irrigation **Definitive management is Surgery:** * Surgical removal of the aganglionic section. * **Swenson, Soave, Dunhamel pull through surgery** **Patients with HAEC:** * IV Antibiotics

Answer 351

A condition where the bowel **Invaginates or telescopes** into itself. This thickens the overall size of the bowel and narrows the lumen at the folding areas leading to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel.

Answer 352

The ileum passing into the caecum through the ileocaecal valve

Answer 353

* Typically occurs in Infants **3 months to 2 years old** * More common in boys (2:1 M:F) * **Most common cause of obstruction in neonates**

Answer 354

* Age - 6 months - 2 years * Gender - Male * Viral infections * Pathological lead points: * Cystic Fibrosis * Polyps * HSP * Meckel's Diverticulum * Hirschsprung's Disease * Rotavirus Vaccine > 23 weeks

Answer 355

* Concurrent **Viral Illness** * Henoch-Schonlein purpura * Cystic Fibrosis * Intestinal Polyps * Meckel's Diverticulum

Answer 356

* Severe, colicky abdominal pain * Pale, lethargic and unwell child * **“Redcurrant jelly stool”** * Right upper quadrant mass on palpation. This is described as **“sausage-shaped”** * Vomiting * Intestinal obstruction

Answer 357

* **Gastroenteritis:** Presents with diarrhoea, vomiting, and abdominal pain, but lacks the characteristic 'redcurrant jelly' stool and palpable abdominal mass. * **Appendicitis:** Characterised by lower right abdominal pain, vomiting, and fever, but does not involve the passage of 'redcurrant jelly' stools. * **Volvulus:** Presents with severe abdominal pain, vomiting, and possibly a distended abdomen, but lacks the 'redcurrant jelly' stools and specific mass. * **Meckel's diverticulum:** Can present with painless rectal bleeding and occasionally abdominal pain, but lacks the typical colicky pain and lethargy seen in intussusception.

Answer 358

**Abdominal Ultrasound** is the initial investigation of choice and see a **Target Shaped Mass** **Contrast Enema may also be used**

Answer 359

**Medical Emergency:** * IV Fluids * **Therapeutic Enemas:** * **Air Insufflation** is used first line * **Surgical Reduction** if enemas do not work, The child is haemodynamically unstable or the child has periotonitis * **Surgical Resection** If the bowel becomes gangrenous or perforated

Answer 360

* Intestinal Obstruction * Gangrenous bowel due to a disruption of the blood supply * Perforation * Death

Answer 361

* A congenital Diverticulum of the small intestine. * It is a remnant of the Omphalomesenteric (Vitellointestinal duct) * It contains Ectopic ileal, gastric or pancreatic mucosa

Answer 362

* Occurs in 2% of the population * Is 2 feet from the proximal from the Ileocaecal valve * Presentation before the age of 2 * Is 2 Inches long * 2:1 Male to female ratio

Answer 363

* Most prevalent congenital abnormality of the GI tract * Affects 2% of the population * Affects males 2:1 ratio * Peak incidence is 1-5 years but often **< 2 years**

Answer 364

The incomplete obliteration of the vitello-intestinal duct, an embryonic structure that typically regresses around the sixth week of gestation.

Answer 365

Omphalomesenteric Artery

Answer 366

**Usually Asymptomatic** * Abdominal pain mimicking appendicitis in the RLQ due to inflammation * **Painless Rectal Bleeding:** Meckel's Diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages 1-2 * Intestinal obstruction: Secondary to an Omphalomesenteric band, Volvulus and intussusception

Answer 367

* **Gastroenteritis:** Presents with abdominal pain, diarrhoea, and possibly fever. * **Appendicitis:** Characterised by right lower quadrant abdominal pain, fever, and nausea or vomiting. * **Peptic ulcer disease:** May cause abdominal pain, heartburn, and bleeding (melena or hematemesis). * **Inflammatory bowel disease:** Symptoms include chronic abdominal pain, diarrhoea, and potentially blood in stool. * **Intestinal obstruction:** Manifests with abdominal pain, vomiting, inability to pass gas or stool, and abdominal distension.

Answer 368

**Meckel (Radionuclide) Scan** * 99mTechnetium Pertechnetate scan: To identify ectopic gastric mucosa

Answer 369

**Surgical removal:** if narrow neck or symptomatic. * Wedge excision * Formal small bowel resection and anastomosis

Answer 370

* **Intussusception:** The diverticulum can act as the apex for ileoileal type * **Obstruction:** Can occur if the diverticulum becomes entrapped in a hernia (termed a Littre's hernia) * **Ulceration and perforation:** (eg. by foreign body), can result in peritonitis and massive haemorrhage

Answer 371

A congenital condition involving either obliteration or discontinuity within the extrahepatic biliary system. This results in obstruction of bile flow

Answer 372

* More common in females * Most common cause of Neonatal cholestasis * Neonatal cholestasis 2-8 weeks post birth

Answer 373

Unknown but thought to be multifactorial. Potentially an aberrant immune response to a viral infection affecting the bile ducts

Answer 374

* **Type I:** Common bile duct is obliterated * **Type II:** Atresia of the cystic duct in the porta hepatis * **Type III:** Most common atresia of the right and left ducts at the level of the porta hepatis

Answer 375

**Presents shortly after birth with:** * **Significant Jaundice:** That is persistent for more than **14 days** in term babies and **21 days** in premature babies * **Dark urine and pale stools:** due to the increased conjugated bilirubin and an obstructive jaundice picture * Appetite disturbance * Hepatosplenomegaly * Abnormal Growth

Answer 376

* **Alagille syndrome:** Presents with neonatal jaundice, peripheral pulmonary artery stenosis, and characteristic facial features. * **Choledochal cyst:** Presents with the classic triad of abdominal pain, jaundice, and an abdominal mass. * **Neonatal hepatitis:** This condition also presents with jaundice, along with hepatomegaly and elevated liver enzymes. * **Inborn errors of metabolism:** Conditions such as galactosemia and tyrosinemia can present with jaundice, poor feeding, and developmental delay.

Answer 377

**Blood tests:** * **Serum Total AND Conjugated bilirubin:** Conjugated bilirubin will be raised in biliary atresia as the liver can conjugate the bilirubin but the bile ducts strictures leads to obstruction and therefore it is not excreted * LFTs: Raised * May do Sweat chloride test to rule out CF **Imaging:** * **Abdominal ultrasound:** This may show distention and tract abnormalities * **Cholangiography:** This is the **definitive diagnostic test**, which will fail to show normal architecture of the biliary tree, confirming biliary atresia.

Answer 378

**Surgery via a Kasai Portoenterostomy:** Involves attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches. **Liver Transplant:** Whilst surgery is a successful procedure that prolongs survival, patients often require a full liver transplant to resolve the condition.

Answer 379

* Cirrhosis and HCC * Progressive Liver Disease

Answer 380

* A condition typically affecting infants and young children under 3 years. It involves hypersensitivity to the protein in cow’s milk. * This may be IgE mediated, in which case there is a rapid reaction to cow’s milk, occurring within 2 hours of ingestion. * It can also be non-IgE medicated, with reactions occurring slowly over several days.

Answer 381

Cow's milk protein allergy (CMPA) is an allergic process and typically has an immediate response Cow's Milk intolerance is not an allergic process (Non-IgE) and does not involve the immune system which typically has a delayed reaction **Lactose is a sugar not a protein.**

Answer 382

* Occurs in 3-6% of all children * Typically presents in the first 3 months/ when weaning off breast milk * More common in formula fed babies and those with a family history of other Atopic conditions * Rarely seen in exclusively breastfed infants

Answer 383

* **Usually presents prior to 1 year of age and becomes apparent when child weaned from breast milk to formula** **Gastrointestinal symptoms:** * Bloating and wind * Abdominal pain/Colic Symptoms such as irritability and crying * Diarrhoea * Vomiting **General allergic symptoms in response to the cow’s milk protein:** * Urticarial rash (hives) * Angio-oedema (facial swelling) * Cough or wheeze * Sneezing * Watery eyes * Eczema * **In rare cases anaphylaxis can occur**

Answer 384

**Clinical Diagnosis** demonstrated by improvement with cows milk protein elimination **Investiations may include** * **Skin prick allergy testing:** can support the diagnosis but is not always necessary * **Total IgE and Specific IgE (RAST) for Cow's Milk protein**

Answer 385

**If Breast Fed** * Avoiding Cows milk should fully resolve symptoms * Consider **Calcium supplements** to prevent deficiency * Breast feeding mothers should avoid dairy products * Try children on the **milk ladder** every 6 months **If Formula Fed** * Replace formula with special hydrolysed formulas designed for cows milk allergy * Etensive Hydrolysed Formula (eHF) is **first Line replacement** * Amino-acid Based formula (AAF) is for **severe CMPA or if no response to eHF** * Try children on the **milk ladder** every 6 months

Answer 386

**Cow's Milk Protein Allergy usually resolves in most children** * In children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years * In children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years * A challenge is often performed in the hospital setting as anaphylaxis can occur.

Answer 387

Cow's Milk Intolerance will present with similar GI symptoms however it will not give the allergic features seen in Cow's Milk Protein Allergy.

Answer 388

Infantile colic is characterised by paroxysms of persistent and uncontrollable crying in an otherwise healthy infant.

Answer 389

* Extremely Common affecting approximately 15-20% of infants * More common in the **first 6 weeks of life.** * Typically occurs in infants **< 3 months old**

Answer 390

Unknown but likely multifactorial. **Gastrointestinal Aetiology?** * Thought to be a functional GI disorder in infants due to **Gut Microbiome alterations, increased GI inflammatory markers or GI dysmotility**

Answer 391

* **Paroxysms of Uncontrollable crying** **Other Features:** * Facial flushing * Tense abdomen * Drawing up of legs to the abdomen * Clenched fists * Circumoral pallor * Stiffening and tightening of arms * Back arching

Answer 392

* Louder * Higher in frequency * Described as **Screaming** rather than crying * More piercing and grating in nature

Answer 393

**Wessell Criteria** * Unexplained crying or fussiness * In an otherwise healthy infant * All red flags and organic causes of crying ruled out (see below in differential diagnosis) * Resolves by 3 months of age * Lasts for greater than 3 hours per day * Occurs on greater than 3 days per week * Persists for greater than 3 weeks

Answer 394

**Diagnosis of Exclusion** as it occurs in otherwise healthy infants. * Must be absent of **Red Flag Features**

Answer 395

* Fever * Evidence of diarrhoea, vomiting, abdominal distention * Reduced conscious state e.g. lethargy, drowsiness, floppy * Signs of trauma e.g. bruising, bleeding, fractures * Poor feeding * Poor weight gain and growth * Signs of developmental delay

Answer 396

* **Normal Crying:** Usually consolable by soothing, feeding or burping * **Intussusception:** will often be present with vomiting and redcurrant jelly stools * **Cow's Milk Protein Allergy:** Presents with other symptoms such as vomiting, diarrhoea and Allergy symptoms * **GORD:** Often occurs after feeding but otherwise and is worse when the infant is lying down. * **UTI:** Fever is likely to be present

Answer 397

**Self Limiting and benign condition** that usually resolves by 3-5 months of age. * Caregiver educational support and reassurance * Appropriate feeding techniques * Potential dietary Changes if other first line techniques fail

Answer 398

* A congenital anomaly in which the Midgut undergoes abnormal rotation and fixation during embryogenesis. * The misplacement of the gut makes it **Susceptible to Volvulus** a life threatening condition where the bowel loops twist.

Answer 399

* Rare condition

Answer 400

* Abnormal rotation and fixation of the midgut during embryonic development * Process usually happens between the 4th and 12 weeks of gestation

Answer 401

* **Bilious Vomiting:** Often occuring within the first day to week of life * Abdominal pain and distension * Haemodynamic instability

Answer 402

* **Pyloric stenosis:** This condition may cause projectile, non-bilious vomiting after feeding, visible peristaltic waves, and a palpable "olive-like" mass in the epigastrium. * **Duodenal atresia:** Presents with bilious vomiting and features "double bubble" sign on abdominal imaging. * **Jejunal/ileal atresia** * **Necrotising Enterocolitis** * **Intestinal obstruction:** Symptoms include bilious vomiting, abdominal pain, distention, and constipation.

Answer 403

**Upper GI Contrast Study:** Gold standard * Reveals the obstruction point as no contrast can pass distally. * Proximal bowel may have a corkscrew appearance. **Abdominal X-Ray with Contrast** * May show double bubble sign seen in duodenal atresia

Answer 404

**Urgent Surgical Laparotomy(Ladds Procedure)** to relieve the obstruction and correct the anatomical abnormality

Answer 405

**Volvulus** leading to bowel obstruction Volvulus is the **twisting of the Bowel Loops** which leads to intestinal obstruction most commonly around **Ladd Bands**

Answer 406

Ladd's Procedure Ladd bands are divided and the bowel in untwisted. **(Ladd bands commonly form between the caecum and duodenum)**

Answer 407

Necrotising (death) of intestine (entero) due to inflammation (colitis) A Condition affecting **premature neonates** where by a part of the bowel becomes necrotic due to ischaemia leading to infection, inflammation, and potentially, perforation, peritonitis and shock.

Answer 408

* Typically presents within the **first 3 weeks** of life in **Premature neonates** * Fatal in 1/5th of cases * Most common surgical emergency in neonates

Answer 409

* **Prematurity** * **Low birth weight (<1500g)** * Non-breastfed infants/ Formula feeds * Sepsis * Respiratory distress and acute hypoxia * Poor intestinal perfusion * PDA and other congenital heart defects

Answer 410

* Intolerance to feeds * Vomiting: often **Bile streaked** * Bloody stools * Abdominal distension * Absent Bowel Sounds * Signs of systemic compromise and generally unwell child: * Lethargy * apnoea

Answer 411

* **Sepsis:** May present with systemic signs of illness, vomiting, poor feeding, and lethargy. * **Gastroenteritis:** Presents with diarrhoea and vomiting, but usually without the severe abdominal distension seen in NEC. * **Intestinal malrotation with volvulus:** Typically presents with bilious vomiting, abdominal pain and bloody stools. * **Hirschsprung's disease:** Presents with abdominal distension, constipation, and failure to pass meconium within 48 hours of birth.

Answer 412

**Blood Tests:** * **Full blood count** for thrombocytopenia and neutropenia * **CRP** for inflammation * **Capillary/ arterial blood gas** will show a metabolic acidosis * **Blood culture** for sepsis **Abdominal X-ray** Investigation of choice. * Dilated Bowel loops * **Rigler's sign:** Both sides of the bowel are visible due to gas in the peritoneal cavity * Bowel wall oedema (Thickened bowel walls) * Pneumatosis intestinalis (Gas within the bowel wall) * Pneumoperitoneum (Free gas within the peritoneal cavity indicates perforation) * Portal venous gas

Answer 413

**Abdominal X-ray** done in the supine position * Dilated Bowel loops * **Rigler's sign:** Both sides of the bowel are visible due to gas in the peritoneal cavity * Bowel wall oedema (Thickened bowel walls) * Pneumatosis intestinalis (Gas within the bowel wall) * Pneumoperitoneum (Free gas within the peritoneal cavity indicates perforation) * Portal venous gas

Answer 414

* Patient is made **Nil By Mouth** * **IV Fluids** * **NG Tube** for gastric decompression * **Total Parental Nutrition (TPN)** to provide nutrition to the rest of the bowel * **Broad Spectrum Antibiotics:** **IV Ampicillin, Gentamicin, Metronidazole/clarithromycin** OR IV cefotaxime * **Surgical Intervention:** immediate referral to the neonatal surgical team as resection of necrotic sections may be necessary or in the case of bowel perforation.

Answer 415

* Perforation and Peritonitis * Sepsis * Death * Strictures * Abscess formation * Recurrence * Long term Stoma * **Short Bowel Syndrome** after surgery

Answer 416

* Encourage breastfeeding in mothers of premature babies * Delayed cord clamping at delivery as this prevents Hypovolaemia

Answer 417

A clinical condition that presents as a yellowing of a newborn's skin and eyes. It results from the accumulation of bilirubin, a by-product of the breakdown of red blood cells, in the body.

Answer 418

* Common condition * Most cases are physiological and self limiting but some may be pathological and represent serious conditions

Answer 419

* There is a **high concentration of red blood cells in the foetus and neonate.** * These red blood cells are **more fragile** than normal red blood cells. Foetal red blood cells **break down more rapidly** than normal red blood cells, releasing lots of bilirubin. * The foetus and neonate also have **less developed liver function.** * Normally this bilirubin is excreted via the placenta, however at birth the foetus **no longer has access to a placenta to excrete bilirubin**. * This leads to a **normal rise in bilirubin shortly after birth**, causing a mild yellowing of skin and sclera from 2 – 7 days of age. * This **usually resolves completely by 10 days.** Most babies remain otherwise healthy and well. **In Summary:** * Relative polycythaemia in newborns * Shorter red blood cell lifespan compared to adults * Less efficient hepatic bilirubin metabolism in the first few days of life

Answer 420

Increased production of bilirubin Decreased clearance of bilirubin

Answer 421

**Most Common** * rhesus haemolytic disease * ABO haemolytic disease * hereditary spherocytosis * glucose-6-phosphodehydrogenase **Other** * Haemorrhage * Intraventricular haemorrhage * Cephalo-haematoma * Polycythaemia * Sepsis and disseminated intravascular coagulation

Answer 422

* Prematurity * Breast milk jaundice * Neonatal cholestasis * Extrahepatic biliary atresia * Endocrine disorders (hypothyroid and hypopituitary) * Gilbert syndrome

Answer 423

**Age of Onset:** * Causes **<24 hours:** **Jaundice within the first 24 hours of life is PATHOLOGICAL** * Causes **24 hours - 14 days** * Causes **> 14 days (> 21 days if preterm)**

Answer 424

* **Neonatal Sepsis:** Neonates with jaundice within 24 hours of birth and any other clinical features or risk factors for sepsis need sepsis treatment immediately * **Haemolytic disorders** (Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis) * **Congenital infections** (TORCH screen indicated)

Answer 425

* **Physiological jaundice** * **Breast milk jaundice** * **Dehydration** * **Infection, including sepsis** * Haemolysis * Bruising * Polycythaemia * Crigler-Najjar Syndrome

Answer 426

* Physiological jaundice but this is longer than would be expected so should prompt further investigation * Breast milk jaundice * Infection * **Hypothyroidism** * **Biliary obstruction (including biliary atresia)** * **G6PD Deficiency** * Neonatal hepatitis

Answer 427

* **yellowing of the skin and eyes** * Poor feeding * Lethargy * **Kernicterus** in severe cases where jaundice is left untreated

Answer 428

* **Haemolytic disorders:** Yellow skin and eyes, pallor, splenomegaly * **Congenital infections:** Fever, lethargy, poor feeding, rash * **Sepsis:** Fever, lethargy, poor feeding, irritability * **Dehydration:** Dry mouth, decreased urination, lethargy * **Bruising:** Discoloration, swelling, tenderness * **Hypothyroidism:** Prolonged jaundice, poor feeding, hypotonia, macroglossia, umbilical hernia * **Biliary obstruction (including biliary atresia):** Prolonged jaundice, clay-coloured stools, dark urine * **Neonatal hepatitis:** Prolonged jaundice, hepatomegaly

Answer 429

* Measuring and Plotting **Total Bilirubin Levels** on nomograms (treatment threshold charts). * These take into account the patients gestation, age and bilirubin levels. * If **total bilirubin** reaches threshold then they should be commenced on treatment to lower their bilirubin level. * **Depending on the clinical history, further investigations may also be warranted to elucidate a cause**

Answer 430

* **Serum Conjugated Bilirubin:** the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention * **Direct antiglobulin test (Coombs' test)** for autoimmune haemolytic anaemias (HDN, RhD, ABO haemolytic anaemia) * **TFTs** * **LFTs** * **FBC and blood film** * urine for MC&S and reducing sugars * U&Es

Answer 431

**Phototherapy:** Usually adequate to correct neonatal jaundice if bilirubin levels are elevated **Exchange transfusion:** May be required if the bilirubin levels are extremely high.

Answer 432

* Converts unconjugated bilirubin into isomers that can be excreted in bile and urine without requiring conjugation in the liver. * **Does not use UV light but uses blue light** **Monitoring:** * Patients should have a **repeat measurement in 24 hours** if bilirubin levels near the phototherapy line. * Once complete a **rebound bilirubin is measured 12-18 hours** later to ensure the bilirubin levels do not rise above threshold again.

Answer 433

**Kernicterus** * Type of brain damage caused by excessive bilirubin levels * Bilirubin can cross the BBB and directly damage the CNS. * The damage to the CNS is permeant causing cerebral palsy, learning disability and deafness.

Answer 434

A less responsive, floppy, drowsy baby with poor feeding.

Answer 435

An infection that can occur in any section of the urinary tract, which includes the kidneys, ureters, bladder, and urethra.

Answer 436

* More common in infants and young children * **More common in boys until 3 months of age** (Due to more congenital abnormalities) * More common in females after 3 months

Answer 437

Bacterial invasion of the urinary tact * **E. coli** * **Klebsiella** * **Proteus** * **Staph saprophyticus**

Answer 438

Inflammation and infection of the kidney that can lead to scarring and consequently a reduction in kidney function.

Answer 439

Inflammation of the bladder

Answer 440

Signs and Symptoms may differ depending on the age of the child: **Infants under 3 months:** * Fever * Vomiting * Lethargy * Irritability * Poor feeding * Failure to thrive * Offensive urine **Infants aged 3-12 months:** * Fever * Poor feeding * Abdominal pain * Vomiting **Children over 1 year old:** * Frequency * Dysuria * Abdominal pain **Fever becomes less common in children over one year old.**

Answer 441

* **Appendicitis:** Mainly characterised by severe abdominal pain, vomiting, and sometimes fever. * **Pylonephritis:** Symptoms may include fever, flank pain, nausea, vomiting, and frequent urination. * **Cystitis:** Presents with dysuria, urinary frequency, and lower abdominal pain. * **Vesicoureteral reflux:** Recurrent UTIs, persistent bacteriuria, and unexplained fevers may suggest this condition.

Answer 442

**Urine Dipstick:** Raised leukocytes and nitrites **Clean Catch Urine Sample and Culture** **Older children can have MSU**

Answer 443

* Temperature greater than **38 degrees** * **Loin pain or tenderness** * Nausea and vomiting

Answer 444

**All children under 3 months with a fever/Suspected Upper UTI should:** * Be referred to paediatrician * start immediate IV antibiotics **(Cefalexin)** **Children suspected of lower UTI aged > 3 months** * Oral antibiotics can be considered in children over 3 months * **Nitrofurantoin, Trimethoprim, Cefalexin, Amoxicillin** often for Lower UTIs * If febrile: 7-10 day course * if not: 5 day course

Answer 445

**Ultrasound Scans:** * **under 6 months** with their **first UTI** should have an abdominal **ultrasound within 6 weeks** * **Recurrent UTIs** should have an abdominal **ultrasound within 6 weeks** * **Atypical UTIs** should have an abdominal **ultrasound during the illness** ... **Dimercaptosuccinic Acid (DMSA) Scan:** * Used **4-6 months after** illness to assess for **damage from recurrent or atypical UTIs**. * Checks for scarring ... **Micturating Cystourethrogram (MCUG)** * Used to investigate **Atypical/Recurrent UTIs in children <6 months** * Used when there is a **FHx of VUR**

Answer 446

* High fluid intake to produce a high urine output * Regular Voiding * Ensuring complete bladder emptying * Prevention/treatment of Constipation * Prophylactic Abx can be considered.

Answer 447

Involuntary urination

Answer 448

Also known as **Bed wetting** A condition where an individual involuntarily urinates during sleep. It is considered a typical part of development until the age of 5.

Answer 449

**Primary:** Children who have never achieved urinary continence overnight **Secondary:** Children who have previously achieved night time continence for **at least 6 months** but have subsequently lost it.

Answer 450

**Part of normal development until the age of 5** * More prevalent in boys * Usually no underlying physiological condition * 2/3 of cases has strong family history of delayed dry nights.

Answer 451

* **Variation of Normal Development in < 5s** * Overactive bladder. * Fluid intake prior to bedtime * Failure to wake * Psychological distress, * Secondary causes

Answer 452

* Urinary tract infection * Constipation * Type 1 diabetes * New psychosocial problems (e.g. stress in family or school life) * Maltreatment

Answer 453

* **Involuntary Urination during sleep** * Signs of other conditions in the cases of Secondary Nocturnal Enuresis

Answer 454

* **Diabetes mellitus:** Symptoms may include polyuria, polydipsia, unexplained weight loss, and persistent hunger. * **Urinary tract infections:** Symptoms can involve dysuria, urinary frequency, lower abdominal pain, and fever. * **Constipation:** Symptoms can include less frequent bowel movements, hard or dry stools, abdominal pain, and bloating.

Answer 455

**Establish underlying causes** * 2 Week Diary of Toileting, fluid intake and bed wetting episodes. * Detailed history, examination and urine dip **Investigations for Secondary Causes:** * Urine dip * Urine osmolarity * Renal Ultrasound

Answer 456

**Enuresis Alarms is first line for children** **Non-pharmacological:** * Reassure parents of children under 5 years that it is likely to resolve without any treatment * Lifestyle changes: reduced fluid intake in the evenings, pass urine before bed and ensure easy access to a toilet * Encouragement reward systems (star charts) **Pharmacological treatment:** * Trial of desmopressin (Synthetic ADH) * used short term eg. for sleepovers * if enuresis alarm is ineffective/not acceptable

Answer 457

Treat the underlying causes: often UTIs or constipation.

Answer 458

Daytime incontinence. Most children have control of daytime urination by 2 years old. This occurs more frequently in girls

Answer 459

* **Urge Incontinence:** Overactive bladder that gives little warning before emptying * **Stress Incontinence:** Leakage of urine during physical exertion, coughing or laughing. **Other Causes:** * Recurrent UTIs * Psychosocial problems * Constipation

Answer 460

* An enuresis alarm is a device that makes a noise at the first sign of bed wetting, waking the child and stopping them from urinating. * It requires quite a high level of training and commitment and needs to be used consistently for a prolonged period (i.e. at least 3 months). * Some families may find them very helpful, whereas others may find they add to the burden and frustration and are counter productive.

Answer 461

Desmopressin: ADH analogue Oxybutynin: Anti-cholinergic that reduces bladder contraction Imipramine: TCA

Answer 462

Characterized by a rapid and sustained decrease in renal function, leading to oliguria, disturbed electrolytes, fluid balance, and the accumulation of urea and waste products. This reduction is biochemically manifested by an increase in urea and creatinine levels.

Answer 463

* Increase in serum creatinine by **≥25 µmol/l within 48 h**, or * Increase in serum creatinine **≥ 1.5x (50% increase) the baseline** within the last 7 days, or * Urine volume **< 0.5 ml/kg/h** for 6 hours

Answer 464

AKI affects 10-20% of all hospitalized patients and up to 50% of critically ill patients in intensive care.

Answer 465

* Older age (e.g., above 65 years) * Sepsis * Chronic kidney disease * Heart failure * Diabetes * Liver disease * Cognitive impairment (leading to reduced fluid intake) * Medications (e.g., NSAIDs, gentamicin, diuretics and ACE inhibitors) * Radiocontrast agents (e.g., used during CT scans)

Answer 466

The most common. **Insufficient blood supply (hypoperfusion) to kidneys reduces the filtration of blood.** This may be due to: * Dehydration * Shock (e.g., sepsis or acute blood loss) * Heart failure * Renovascular (renal artery stenosis) * Autoregulation due to NSAIDs, ACEis, ARBs

Answer 467

Renal causes are due to **intrinsic disease in the kidney.** This may be due to: * Acute tubular necrosis * Glomerulonephritis * Acute interstitial nephritis * Haemolytic uraemic syndrome * Rhabdomyolysis

Answer 468

involve **obstruction to the outflow of urine away from the kidney,** causing back-pressure into the kidney and reduced kidney function. This is called an obstructive uropathy. Obstruction may be caused by: * Kidney stones * Posterior urethral valves * Tumours (e.g., retroperitoneal, bladder or prostate) * Strictures of the ureters or urethra * Benign prostatic hyperplasia (benign enlarged prostate) * Neurogenic bladder

Answer 469

Pre-renal (hypovolaemia) due to infections such as gastroenteritis burns, sepsis, haemorrhage and nephrotic syndrome

Answer 470

Damage and death of the epithelial cells of the renal tubules. It is the most common intrinsic cause of an AKI and occurs due to Ischaemia or Nephrotoxins **Muddy Brown Casts** on urinalysis confirms acute tubular necrosis

Answer 471

* Rapid rise in serum creatinine levels and urea * **Oliguria:** Decrease in urine output (<0.5 ml/kg/h for 6 hours) * **Fluid overload signs** (e.g., edema, hypertension, pulmonary edema) * Signs related to underlying cause (e.g., sepsis, rashes in vasculitis) * Signs of uremia in severe cases (e.g., fatigue, anorexia, nausea, pruritus, altered mental status)

Answer 472

* **Bloods:** Full blood count (FBC), urea and electrolytes (U&Es), liver functions tests (LFTs), glucose, clotting, bone profile, creatine kinase (CK), C-reactive protein (CRP). * **Venous blood gas (VBG)/arterial blood gas (ABG):** For acidosis, hypoxia, urgent potassium level. * **Urine tests:** Dipstick (looking for blood and protein), microscopy, culture & sensitivity (MC&S; to exclude infection), biochemistry (electrolytes, osmolality), urine protein:creatinine ratio (uPCR; to quantify proteinuria). * **ECG:** To look for hyperkalaemia. * **Chest X-ray (CXR):** To identify pulmonary oedema. * **Renal ultrasound:** To evaluate renal size (normal is 10–13 cm) and echotexture, hydronephrosis, structural kidney disease. **If the cause is unclear then an acute renal screen may be necessary**

Answer 473

**Regular Monitoring of Circulation and Fluid Balance** * IV fluids for dehydration and hypovolaemia * Withhold medications that may worsen the condition (e.g., NSAIDs and ACE inhibitors) * Withhold/adjust medications that may accumulate with reduced renal function (e.g., metformin and opiates) * Relieve the obstruction in a post-renal AKI (e.g., insert a catheter in a patient with prostatic hyperplasia) * Dialysis may be required in severe cases

Answer 474

**A**cidosis (severe metabolic acidosis with pH of <7.20) **E**lectrolyte imbalance (resistant hyperkalaemia) **I**ntoxication ( BLAST drugs) **O**edema (refractory pulmonary oedema) **U**raemia (encephalopathy or pericarditis) **BLAST DRUGS:** * Barbituates * Lithium * Alcohol * Salicylate * Theophylline

Answer 475

* Fluid overload, heart failure and pulmonary oedema * Hyperkalaemia * Metabolic acidosis * Uraemia (high urea), which can lead to encephalopathy and pericarditis

Answer 476

eGFR < 15 ml/min

Answer 477

* Structural Malformations * Glomerulonephritis * Hereditary Nephropathies (PKD) * Systemic Diseases

Answer 478

**Symptoms generally do not develop until renal function falls to less than 1/3rd of normal** * Often picked up on Antenatal ultrasound * Anorexia and Lethargy * Polydipsia and Polyuria * Faltering Growth * Hypertension * Acute on Chronic Renal failure precipitated by infection or dehydration * Incidental finding of proteinuria

Answer 479

* Sufficient feeding with good protein intake to maintain growth -> this can be supplemented with NG/gastrostomy feeding if necessary * Phosphate restriction and activated vit D to prevent renal osteodystrophy * Bicarbonate supplements to prevent acidosis * EPO to prevent anaemia * Growth hormone * Dialysis and transplantation if necessary

Answer 480

Nephrotic syndrome occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from the blood into the urine. * It is most common between the ages of 2 and 5 years. * It presents with frothy urine, generalised oedema and pallor.

Answer 481

* Low serum albumin < 25g/dl * High urine protein content (>3+ protein on urine dipstick or a urine Protein:Creatinine ratio of > 200mmg/mol) * Oedema

Answer 482

**Minimal Change Disease:** causing over 90% of cases in children under 10 **Secondary to Intrinsic Kidney Disease:** * Focal Segmental Glomerulosclerosis * Membranous Nephropathy * Membranoproliferative Glomerulonephritis **Systemic Illness:** * Henoch Schonlein Purpura * Diabetes * Infection: HIV, Hepatitis, Malaria

Answer 483

Most common cause of Nephrotic syndrome in children. Unknown Aetiology Despite the clinical symptoms the condition is marked by minimal or no change visible under light microscopy to nephrological structures. More subtle changes are seen on electron microscopy.

Answer 484

* Low serum albumin: causing ankle swelling * **Frothy Urine:** High urine protein content (>3+ protein on urine dipstick) * **Oedema:** Facial and periorbital swelling * Fatigue * Weight gain due to fluid retention * Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins * High blood pressure * Hyper-coagulability, with an increased tendency to form blood clots

Answer 485

* **Focal segmental glomerulosclerosis (FSGS):** Presents with proteinuria, hypertension, and oedema. However, FSGS often progresses to kidney failure and responds less well to corticosteroids compared to MCD. * **Membranous nephropathy:** Characterized by heavy proteinuria, hypertension, and oedema. It typically affects adults and is less common in children. * **Secondary causes of nephrotic syndrome:** Conditions such as diabetes, lupus, or certain infections and medications can lead to nephrotic syndrome.

Answer 486

* **Urinalysis:** Identify proteinuria, **Hyaline Casts** * **Blood Tests:** Low albumin and elevated cholesterol * **Renal Biopsy:** * standard microscopy in minimal change disease will not detect any abnormality * Electron Microscopy will show fusion of podocytes and effacement of foot processes

Answer 487

**Medical Management:** * **High dose Corticosteroid Therapy:** Prednisolone 60mg/m2/daily for 6 weeks (Max dose is 80mg). Then wean down to 40mg alternate days for 4-6 weeks * Diuretics (Furosemide) may be used to treat oedema: 1-2mg/kg/day * Albumin infusions may be required in severe hypoalbuminaemia **Non-pharmacological:** * **Fluid Restriction and reduced salt intake** to manage oedema and prevent further complications **In resistance:** * **2nd Line:** Oral immunosuppressive agents such as cyclophosphamide, ciclosporin, Tacrolimus in steroid resistant children * Pneumococcal immunisations

Answer 488

* **Hypovolaemia** occurs as fluid leaks from the intravascular space into the interstitial space causing oedema and low blood pressure. * **Thrombosis** can occur because proteins that normally prevent blood clotting are lost in the kidneys, and because the liver responds to the low albumin by producing pro-thrombotic proteins. * **Infection** occurs as the kidneys leak immunoglobulins, weakening the capacity of the immune system to respond. This is exacerbated by treatment with medications that suppress the immune system, such as steroids. * **Acute or chronic renal failure** * **Relapse**

Answer 489

* 1/3 of patients resolve completely and never have another episode. * 1/3 have further relapses requiring additional steroid treatment. * 1/3 are dependent on continued steroid/immunosuppression therapy.

Answer 490

Group of kidney disorders that result in the presence of red blood cells in urine (haematuria), non-nephrotic range proteinuria, and often hypertension. These conditions are typically characterized by inflammation and damage to the glomeruli, the tiny blood vessels within the kidneys that filter waste and excess water from the bloodstream.

Answer 491

* Can occur at any age, but certain causes such as post-streptococcal glomerulonephritis and IgA nephropathy are more common in children and young adults. * Other causes like rapidly progressive glomerulonephritis and Goodpasture's disease occur more frequently in older adults.

Answer 492

**Key ones:** * IgA Nephropathy (most common) * Poststrep glomerulonephritis * Henoch Schonlein Purpura **From conditions that cause inflammation and damage to the glomeruli. These include:** * **Autoimmune diseases**, such as systemic lupus erythematosus (SLE) or Henoch-Schönlein purpura * **Infections**, such as post-streptococcal infection * **Genetic disorders**, such as Alport's syndrome * **Other diseases** that damage the kidney, including Goodpasture's disease, rapidly progressive glomerulonephritis, IgA nephropathy, and membranoproliferative glomerulonephritis

Answer 493

**Post Strep Glomerulonephritis** **IgA Nephropathy (Berger's Disease)** **Henoch-Schonlein Purpura**

Answer 494

* Haematuria, often microscopic but may be macroscopic * Hypertension * Non-nephrotic range proteinuria * and Oedema but less severe than nephrotic syndrome

Answer 495

* Haematuria, often microscopic but may be macroscopic * Hypertension * Non-nephrotic range proteinuria * Oedema (less severe than in nephrotic syndrome) In severe cases, patients may experience symptoms of acute kidney injury such as oliguria or anuria.

Answer 496

* **SLE:** Presents with a wide range of symptoms including fatigue, joint pain, rash, and fever. Renal involvement can cause nephritic syndrome. * **Henoch-Schönlein purpura:** Symptoms include a purpuric skin rash, joint pain, gastrointestinal symptoms, and nephritic syndrome. * **Anti-GBM disease (Goodpasture's disease):** Presents with a combination of lung and kidney disease, including coughing, shortness of breath, hemoptysis, and nephritic syndrome. * **Rapidly Progressive glomerulonephritis (GN):** Patients may present with rapidly declining kidney function over weeks to months, often with nephritic syndrome. * **Post-streptococcal GN:** Typically presents 3-4 weeks after a streptococcal throat or skin infection, with features of nephritic syndrome. * **Alport's syndrome:** A genetic disorder that often presents with hearing loss, eye abnormalities, and nephritic syndrome. * **IgA nephropathy (Berger's disease):** Typically presents 1-2 days following a respiratory or gastrointestinal infection, often with macroscopic hematuria and nephritic syndrome. * **Membranoproliferative GN:** Presents with nephritic or nephrotic syndrome, or a combination of both. May be associated with chronic infections or autoimmune diseases.

Answer 497

Post-streptococcal glomerulonephritis occurs **1 – 3 weeks after a β-haemolytic streptococcus infection**, such as tonsillitis caused by Streptococcus pyogenes. **Type III Hypersenstivity Reaction** Immune complexes made up of streptococcal antigens, antibodies and complement proteins get stuck in the glomeruli of the kidney and cause inflammation. This inflammation leads to an acute deterioration in renal function, causing an acute kidney injury.

Answer 498

**PSGN patients typically present with a sudden onset of haematuria, oliguria, hypertension, and/or oedema 1–3 weeks post-infection.** Some patients may remain asymptomatic, revealing only microscopic haematuria upon investigation.

Answer 499

**The first-line investigation consists of urinalysis and microscopy and culture:** * Urinalysis typically tests positive for blood and sometimes protein. * Urine microscopy usually reveals the presence of dysmorphic red blood cells, indicating bleeding from the glomerulus. * **raised anti-streptolysin O titre** are used to confirm the diagnosis of a recent streptococcal infection * **low C3** **The gold-standard method for diagnosis in adults is a renal biopsy** where the classical finding is subepithelial 'humps' due to immune complex deposition on electron microscopy.

Answer 500

**Management is mainly focused on handling the hypertension, oedema and AKI as per standard treatment guidelines for any cause of AKI.** * Antihypertensives and diuretics * As the course of the infection is generally self-limiting, additional specific therapies for PSGN are usually unnecessary

Answer 501

IgA nephropathy (IgAN) is a type of glomerulonephritis (GN) distinguished by the deposition of IgA in the mesangium of the glomerulus. It holds the title as the most common form of primary GN globally.

Answer 502

* Recurrent gross or microscopic haematuria, generally occurring **12–72 hours after an upper respiratory tract or gastrointestinal infection.** * Mild proteinuria. * Hypertension. * Less commonly, presentations can include nephrotic syndrome or a rapidly progressive GN, resulting in acute renal failure. * Associations with Henoch-Schönlein purpura (HSP)/IgA vasculitis, chronic liver disease, inflammatory bowel disease (IBD), and skin and joint disorders, such as psoriasis, have been observed.

Answer 503

**Initial investigation with a urinalysis and urine MC&S.** * Urinalysis often reveals presence of blood ± protein, with dysmorphic red blood cells on urine microscopy suggesting glomerular bleeding. **C3/4 levels:** C3 - Typically normal due to activation of the complement pathway by IgA C4 - normal - not involved in IgA Complement activation **The gold-standard diagnostic tool for IgAN is renal biopsy** * which shows diffuse mesangial IgA immune complex deposition. * Serum IgA levels are elevated in approximately 50% of patients.

Answer 504

**<0.5g/day proteinuria or isolated haematuria** * Supportive care and reduction of cardiovascular risk * Dietary salt restriction. **Proteinuria management >0.5 g/day or reduced GFR** * ACE inhibitor or angiotensin II receptor blocker (ARB). **if there is active disease (e.g. falling GFR) or failure to respond to ACE inhibitors** * Immunosuppression with corticosteroid treatment * Immunosuppression (cyclophosphamide) is offered for patients presenting with a rapidly progressive GN.

Answer 505

* IgA vasculitis, is an immune-mediated small vessel vasculitis. * It predominantly affects children, especially those aged 3-5 years, * It is characterized by palpable purpura, arthritis or arthralgia, abdominal pain, and renal disease.

Answer 506

* Most common Vasculitis in children * Peak incidence in 3-5s * More common in males * More common in autumn and winter following URTI

Answer 507

Unknown but thought to be immune mediated as it is often preceded by an URTI

Answer 508

* Purpura or petechiae, primarily located on the buttocks and lower limbs * Abdominal pain * Arthralgia or arthritis, predominantly in the knees and ankles * Renal involvement - Nephritis (hematuria and/or proteinuria) * Patients may present with a fever * Often, a history of a recent upper respiratory tract infection

Answer 509

* **Leukocytoclastic vasculitis:** Presents with palpable purpura, but typically lacks the systemic features of HSP * **Idiopathic thrombocytopenic purpura (ITP):** Presents with petechiae and purpura, but lacks abdominal pain, arthralgia, and renal involvement * **Meningococcemia:** Presents with purpuric rash and fever, but also includes symptoms like rapid disease progression, severe illness, and potential neurological symptoms.

Answer 510

**Primarily a clinical diagnosis based on PRES Criteria:** * **Palpable Purpura (not petechial) + one of:** * Diffuse abdominal pain * Arthritis or arthralgia * IgA deposits on histology (biopsy) * Proteinuria or haematuria **Other tests to Exlude DDx:** * Full blood count and blood film for thrombocytopenia, sepsis and leukaemia * Renal profile for kidney involvement * Serum albumin for nephrotic syndrome * CRP for sepsis * Blood cultures for sepsis * Urine dipstick for proteinuria * Urine protein:creatinine ratio to quantify the proteinuria * Blood pressure for hypertension

Answer 511

* Analgesia and anti-inflammatory effects are typically achieved with NSAIDs * Good Hydration is important. * Antihypertensives may be needed to control blood pressure in cases of significant renal involvement **Monitoring:** * Urine Dipstick for renal involvement * Blood pressure for hypertension

Answer 512

A congenital condition affecting males, where the urethral meatus (the opening of the urethra) is abnormally displaced to the ventral side (underside) of the penis, towards the scrotum. This might be further towards the bottom of the glans (in 90% of cases), halfway down the shaft or even at the base of the shaft.

Answer 513

Where the urethral meatus is displaced to the dorsal side of the penis

Answer 514

These are congenital conditions that ae usually diagnosed on examination of the newborn (NIPE Exam)

Answer 515

**Warn parents not to circumcise the infant until a urologist says it is ok** * **Mild Cases:** May not require any treatment in distal disease **moderate/severe cases:** * Surgery: performed **Around 12 months of age** but always after 3-4 months of age * Surgery aims to correct the position of the meatus and straighten the penis

Answer 516

* Difficulty directing urination * Cosmetic and psychological concerns * Sexual dysfunction

Answer 517

* A renal-limited form of **thrombotic microangiopathy.** * This syndrome is characterised by the triad of microangiopathic haemolytic anaemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). * Usually this is triggered by Shiga Toxins from either **E.coli 0157 or Shigella**

Answer 518

* Most often affects children following an episode of gastroenteritis * Typical cases (80-90%) are associated with Diarrhoea and Food poisoning * Atypical cases (10%) are associated with complement deficiency

Answer 519

**Typical HUS:** Most often caused by bacterial infections, especially E. coli 0157:H7 subtype, but also Shigella, Salmonella, Yersinia, and Campylobacter. **Atypical HUS:** Predominantly due to inherited or autoimmune complement deficiencies. **Antibiotics and antimotility agents used to treat gastroenteritis caused by E.coli 0157 or shigella can increase the risk of HUS**

Answer 520

Classic Triad of: * Microangiopathic haemolytic anaemia * Acute kidney injury * Thrombocytopenia (low platelets)

Answer 521

E. coli O157 and Shigella cause gastroenteritis. **Diarrhoea is the first symptom**, which turns bloody within 3 days. Around a week after the onset of diarrhoea, the features of HUS develop: * Fever * Abdominal pain * Lethargy * Pallor * Reduced urine output (oliguria) * Haematuria * Hypertension * Bruising * Jaundice (due to haemolysis) * Confusion

Answer 522

**Thrombotic Thrombocytopenic Purpura**

Answer 523

The formation of blood clots consumes platelets, leading to thrombocytopenia. The blood flow through the kidney is affected by thrombi and damaged red blood cells, leading to acute kidney injury. Microangiopathic haemolytic anaemia (MAHA) involves the destruction of red blood cells (haemolysis) due to pathology in the small vessels (microangiopathy). Tiny blood clots (thrombi) partially obstruct the small blood vessels and churn the red blood cells as they pass through, causing them to rupture.

Answer 524

**Main Ix** * **Full blood count (FBC):** Shows normocytic anaemia (secondary to haemolysis), thrombocytopenia, and possibly a raised neutrophil count. * **Urea and Electrolytes (U&Es):** Show a raised urea and creatinine signifying AKI * **Stool culture:** Particularly important in typical HUS to identify the causative pathogen.** **Others:** * **Blood film:** Will reveal reticulocytes (secondary to haemolysis) and schistocytes (fragmented red cells). * **Liver function tests (LFT), lactate dehydrogenase (LDH), D-dimer:** Will be raised, consistent with haemolysis. * **Coomb's Test**

Answer 525

**A medical emergency that requires hospital admission and supportive care:** * Hypovolaemia (e.g., IV fluids) * Hypertension * Severe anaemia (e.g., blood transfusions) * Severe renal failure (e.g., haemodialysis)

Answer 526

HUS is self limiting and most patients fully recover with **Good early supportive care**

Answer 527

* The condition where the **foreskin is too tight to be retracted over the glans of the penis.** * This condition is considered normal in infants and young children but is expected to resolve naturally over time. * In adults, the presence of phimosis may be indicative of an underlying pathological condition.

Answer 528

The inability to **replace the foreskin to its original position after it has been retracted**, leading to venous congestion and potentially causing oedema and ischaemia of the glans penis.

Answer 529

Phimosis is physiologically normal in infants and young children <2 years old, Paraphimosis is often seen in adults and elderly, particularly in those with catheterization or following improper foreskin care.

Answer 530

**Various conditions that cause scarring of the foreskin and/or glans, leading to adhesions** These include: * Sexually Transmitted Infections (STIs) * Eczema * Psoriasis * Lichen planus * Lichen sclerosis * Balanitis

Answer 531

The main symptom is the inability to retract the foreskin. In some severe cases, it can interfere with normal urination or sexual function.

Answer 532

The main signs include a swollen and painful glans, and a tight band of foreskin behind the glans. If left untreated, it can lead to signs of ischaemia such as discolouration and severe pain.

Answer 533

* **Balanitis Xerotica Obliterans (BXO):** Presents with whitish skin changes, pruritus, painful erections, and difficulty with micturition. * **Balanitis:** Signs and symptoms include redness, swelling, and a discharge with a foul smell.

Answer 534

* **Penile Fracture:** Characterised by a cracking sound, immediate detumescence, pain, swelling, and a hematoma. * **Penile Carcinoma:** Usually presents as a painless lump or ulcer on the penis.

Answer 535

**Clinical diagnosis based on history and physical examination** * May use ultrasound or uroflowmetry in uncertain cases or if complications are suspected

Answer 536

* Topical steroid creams to reduce inflammation and encourage stretching of the foreskin * Circumcision may be considered in recurrent or refractory cases

Answer 537

* Apply manual pressure over time to reduce oedema to the glans * **Dorsal Slit** may be used to cut the foreskin and relieve constriction.

Answer 538

Urinary Retention Penile Ischaemia

Answer 539

Developmental abnormality where the ureters are displaced and enter directly into the bladder rather than at an angle causing reflux of urine into the renal pelvis and can cause scarring with UTIs.

Answer 540

* Most common in infants and young children

Answer 541

**Most common type** Occurs when a child is born with a defect at the vesicoureteric junction. Ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle, therefore there is a shortened intramural course of the ureter. This spot normally works as a valve however if there is a defect then this valve cannot close and thus when the bladder is filled it enables urine to reflux into the ureter.

Answer 542

Obstruction at some point in the urinary tract that causes increased pressure and back flow into the ureters. Most commonly caused by: * Recurrent UTIs * Posterior Urethral valve disorder * Flaccid neurogenic bladder

Answer 543

**Grade I:** Urine backs up into ureters **Grade II:** Urine fills ureters and renal pelvis **Grade III:** Urine fills and stretches the ureter and renal pelvis **Grade IV:** Ureter becomes curvy and the renal pelvis and calices become swollen. **Grade V:** Swelling of the ureter and renal pelvis and calyx causing renal failure

Answer 544

* Milder cases: no symptoms Severe cases: * Recurrent UTIs * Unexplained fevers * Persistent bacteriuria

Answer 545

**Abdominal Ultrasound:** Detects blockages and swelling **Micturating (Voiding) Cystourethrogram (MCUG):** Shows how urine moves through the vesicoureteric junction using contrast dye. **Radionuclide cystogram:** Tracer injected into blood vessel which then traces the path.

Answer 546

**Depends on severity and age** * May improve with age and without input * May require surgery: remove a blockage or repair a valve

Answer 547

Eczema is a **chronic atopic condition** caused by defects in the normal continuity of the skin barrier, leading to **inflammation** in the skin Also known as **Atopic Dermatitis**

Answer 548

* Atopic dermatitis is one of the most common skin disorders globally, affecting people of all ages. * Childhood onset is common, with up to **20% of children affected.** * Prevalence decreases with age, but adult-onset cases can occur. * **A family history of atopy (e.g. asthma, allergic rhinitis) is a significant risk factor.** * Urbanisation and industrialisation are associated with a higher prevalence.

Answer 549

* The simplified pathophysiology is that eczema is caused by defects in the barrier that the skin provides. * Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms. * In many cases, atopic dermatitis is associated with an IgE-mediated allergic response to environmental allergens.

Answer 550

* **Epidermal acanthosis:** thickening of the epidermis due to hyperplasia. * **Hyperkeratosis:** thickening specifically of the stratum corneum. * **Parakeratosis:** retained nuclei in the stratum corneum indicating problems with the usual differentiation process.

Answer 551

* Atopic eczema * Allergic contact dermatitis * Irritant contact dermatitis * Seborrheic dermatitis (Cradle Cap) * Venous eczema (stasis dermatitis) * Asteatotic dermatitis (eczema craquele) * Erythrodermic eczema * Pompholyx eczema

Answer 552

* Childhood predominance: symptoms tend to become less severe with age. * Associated with atopic phenotype: asthma, hayfever, raised eosinophils. * Dry, itchy, erythematous rash: repeated scratching may exacerbate affected areas * In infants the face and trunk are often affected * In younger children, eczema often occurs on the extensor surfaces * In older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

Answer 553

* This is a dermatological emergency and may complicate atopic eczema. * It is syndrome characterised by widespread redness (>90%) * There is often skin exfoliation too, which leads to exfoliative dermatitis.

Answer 554

* Also known as venous eczema. * This is eczema associated with chronic venous insufficiency (venous hypertension), usually affecting the gaiter area. * There may be associated skin changes therefore, including: venous ulcers, lipodermatosclerosis, and haemasiderosis.

Answer 555

* This is a subtype of eczema associated with intensely itchy vesicles that erupt in the hands. * It is also referred to as dishydrotic eczema.

Answer 556

Eczema associated with dry skin.

Answer 557

Atopic dermatitis seen on the ankle joint, upper leg and buttocks of an infant.

Answer 558

**Clinical Diagnosis**

Answer 559

**Management of Flares** * Conservative management * **Use liberal Emollient + Topical Steroid** **Emollients:** * Use liberally (Thin or thick layers depending on severity) * This creates a barrier for the skin. **Topical Steroids:** * Steroid ladder depending on the severity of Eczema * **Mild:** Hydrocortisone (0.5%, 1% and 2.5%) * **Moderate:** Eumovate (clobetasone butyrate 0.05%) * **Potent:** Betnovate (beclomethasone 0.1%) * **Very potent:** Dermovate (Clobetasol propionate 0.05%) **Specialist Treatments:** * Oral Steroids * DMARDs (Methotrexate, Azathioprine, Tacrolimus, Ciclosporin) * Biologics (Baricitinib)

Answer 560

* Avoid triggers: soaps, perfumes, biological detergents, or synthetic fabrics. Replace these where possible (soap substitutes, non biological detergents, natural fabrics e.g. cotton.) * Avoid allergens. * Keep the area cool and dry. * Sedating antihistamine can reduce itching and aid sleep. * Liberal emollients should be applied frequently. * Psychological support may be needed.

Answer 561

**Thin Emollients:** * E45 * Diprobase cream * Oilatum cream * Aveeno cream * Cetraben cream * Epaderm cream **Thick Greasy Emollients:** * 50:50 Ointment * Hydromol ointment * Diprobase ointment * Cetraben ointment * Epaderm ointment

Answer 562

* Thinning of the skin which can make it more prone to flares, bruising and tearing * Cause Telangiectasia (enlarged blood vessels)

Answer 563

**Stratching:** * Poor sleep * Poor Mood * Skin breakdown leading to infection **Psycho-social:** * Insecurities surrounding skin appearance * Normal ADLs disrupted due to skin condition such as avoiding swimming **Eczema Herpeticum**

Answer 564

**Bacterial Infection:** * Staph aureus is the most common organism that can enter through breaks in the skins protective barrier * Treatment with oral Abx (flucloxacillin)

Answer 565

Eczema herpeticum is a viral skin infection caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV). It was previously known as Kaposi varicelliform eruption It usually occurs in a patient with a pre-existing skin condition, such as atopic eczema or dermatitis, where the virus is able to enter the skin and cause an infection.

Answer 566

A typical presentation is a patient who suffers with eczema Develops **rapidly progressing widespread, painful, vesicular rash with systemic symptoms:** * Lethargy * Irritability * Redued oral intake * Lymphadenopathy

Answer 567

* The rash is usually widespread and can affect any area of the body. * It is **erythematous, painful and sometimes itchy** * The vesicles appear as lots of individual spots containing fluid. **monomorphic punched-out erosions (circular, depressed, ulcerated lesions) usually 1-3 mm in diameter are typically seen.**

Answer 568

* **Same day referral to dermatologist** * **Viral swabs** of the vesicles can be used to confirm the diagnosis, although treatment is usually started based on the clinical appearance. * **Treatment is with aciclovir.** A mild or moderate case may be treated with oral aciclovir, whereas more severe cases may require IV aciclovir.

Answer 569

Stevens-Johnson syndrome (SJS) is **an immune-complex-mediated TypeIV hypersensitivity disorder** * It results in the breakdown of the dermal-epidermal junction * leading to a maculopapular rash and skin sloughing. Most severe form is **Toxic Epidermal Necrolysis (TEN)**

Answer 570

* Rare disorder * Affects both genders and all age groups

Answer 571

* Type IV Hypersensitivity Reaction often due to adverse drug reactions. * Leads to detachment of the epidermis from the dermis at the dermal-epidermal juction.

Answer 572

**Almost always caused by Medications** SPPANLOC: * **S**ulphonomides * **P**enicillin * **P**henytoin * **A**llopurinol * **N**SAIDS * **L**amotrigine * **O**CP * **C**arbemazepine **Infections** * Herpes simplex * Mycoplasma pneumonia * Epstein-Barr Virus * Cytomegalovirus * HIV

Answer 573

* Often **presents within a week** of medication intake * **Initially Systemic symptoms** such as Fever, Arthralgia, Coryza * **Erythematous macules**, later becoming **target-shaped**, appear after a few days. * A few days later, **flaccid blisters** develop and the **Nikolsky sign (sloughing of skin when rubbed)** is positive. * **Mucosal ulceration is seen in at least two** of the following: conjunctiva, mouth, urethra, pharynx, or gastrointestinal tract. **SJS affects less than 10% of the body surface, in contrast to Toxic Epidermal Necrolysis (TEN), which involves more than 30% of the skin.**

Answer 574

* **Erythema Multiforme:** Characterized by target lesions, typically on the hands and feet, and less severe mucosal involvement. * **Staphylococcal Scalded Skin Syndrome** * **Toxic Shock Syndrome** * **Drug Rash with Eosinophilia and Systemic Symptoms (DRESS):** Presents with fever, rash, and internal organ involvement, often with a delay of 2-6 weeks after drug exposure. * **Acute Generalized Exanthematous Pustulosis (AGEP):** Noted for the rapid development of numerous small non-follicular sterile pustules on a background of oedematous erythema.

Answer 575

Stevens-Johnson Syndrome

Answer 576

**Clinical Diagnosis** * Can be supported by a **skin biopsy** that shows **necrotic keratinocytes and sparse lymphocytic infiltrate**

Answer 577

**Medical Emergency** so should be admitted to dermatology or burns unit **Remove Offending Meditation** **Fluid balance and Electrolytes** **Supportive Care:** * Analgesia * Antiseptics * VTE prophylaxis * Opthalmology input * Treatment may include **steroids, immunoglobulins and immunosuppressant medications**

Answer 578

* **Dehydration:** Loss of the skin can put the patient at risk of losing a lot of fluid. They will require regular fluid and electrolyte monitoring * **Secondary infection:** The breaks in the skin can lead to secondary bacterial infection, cellulitis and sepsis. * **Permanent skin damage:** Skin involvement can lead to scarring and damage to skin, hair, nails, lungs and genitals. * **Visual complications:** Depending on the severity, eye involvement can range from sore eyes to severe scarring and blindness.

Answer 579

A condition caused by **an IgE-mediated type 1 hypersensitivity reaction.** Environmental allergens cause an allergic inflammatory response in the **nasal mucosa.**

Answer 580

* A common condition * Often present in individuals with immune disorders. * Often presents with Atopy and asthma.

Answer 581

* **Seasonal** for example hay fever * **Perennial (year round)** for example house dust mite allergy * **Occupational** associated with the school or work environment

Answer 582

* Runny, blocked and itchy nose * Sneezing * Itchy, red and swollen eyes * Associated with Personal or family history of **atopy conditions**

Answer 583

**Clinical diagnosis** * Skin prick tests or Blood tests for IgE specific antibodies to identify the allergen.

Answer 584

* **Sinusitis:** Facial pain or pressure, nasal stuffiness, nasal discharge, loss of smell, and cough * **Nasal Polyps:** Chronic sinusitis, runny nose, postnasal drip, decreased or absent sense of smell, facial pain or headache, snoring, and frequent nosebleeds * **Deviated Nasal Septum:** Nosebleeds, facial pain, headache, postnasal drip, loud breathing and snoring during sleep * **Common Cold:** Sore throat, cough, congestion, body aches, and fatigue

Answer 585

* **Tree pollen or grass** allergy leads to seasonal symptoms (hay fever) * **House dust mites** and pets can lead to persistent symptoms, often worse in dusty rooms at night. Pillows can be full of house dust mites. * **Pets** can lead to persistent symptoms when the pet or their hair, skin or saliva is present * **Other allergens** lead to symptoms after exposure (e.g. mould)

Answer 586

* **Avoid Triggers** * **Oral Antihistamines** taken prior to exposure to reduce allergic symptoms * **nasal irrigation** with saline * **Nasal Corticosteroids** if initial measures are ineffective.

Answer 587

**Non-Sedating:** * Cetirizine * Loratadine * Fexofenadine **Sedating:** * Chlorphenamine (Piriton) * Promethazine

Answer 588

Also known as **Hives, Wheals, Nettle Rash** **Local or generalised superficial swelling of the skin that is purirtic.** Most commonly due to allergy but can also be caused by non-allergic causes

Answer 589

Urticaria are caused the release of histamine and other pro-inflammatory chemicals by mast cells in the skin. This may be part of an allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria.

Answer 590

**typically triggered by something that stimulates the mast cells to release histamine. This may be:** * Allergies to food, medications or animals * Contact with chemicals, latex or stinging nettles * Medications * Viral infections * Insect bites * Dermatographism (rubbing of the skin)

Answer 591

aspirin penicillins NSAIDs opiates

Answer 592

**Chronic Urticaria is an autoimmune condition and is subclassified depending on the cause:** * Chronic Idiopathic Urticaria * Chronic Inducible Urticaria * Autoimmune Urticaria

Answer 593

Recurrent episodes of chronic urticaria without a clear underlying cause or trigger

Answer 594

* Sunlight * Temperature change * Exercise * Strong emotions * Hot or cold weather * Pressure (dermatographism)

Answer 595

Chronic Urticaria associated with an underlying autoimmune condition such as SLE

Answer 596

**Antihistamines:** * Non-sedating are first line: Usually Fexofenadine (citirizine, loratidine also used) * Sedating may be used at night time for troublesome sleep (Chlorphenamine) **Oral steroids (prednisolone)** * Considered short course for severe flares. * Considered in severe or resistant urticaria **Very Problematic cases:** * Anti-leukotrienes (Montelukast) * Omalizumab targets IgE * Ciclosporin

Answer 597

An acute and **severe type 1 hypersensitivity reaction.** **It is a systemic, potentially life-threatening condition** that involves multiple organ systems due to the release of mediators from mast cells and basophils.

Answer 598

* **Animals:** Insect stings, animal dander * **Foods:** Nuts, peanuts, shellfish, fish, eggs, milk * **Medications:** Antibiotics, IV contrast media, NSAIDs

Answer 599

* Type 1 hypersensitivity reaction. * Immunoglobulin E (IgE) stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals. * This is called mast cell degranulation. * This causes a rapid onset of symptoms, with airway, breathing and/or circulation compromise. * The key feature that differentiates anaphylaxis from a non-anaphylactic allergic reaction is compromise of the airway, breathing or circulation.

Answer 600

**Rapid Onset Allergic Symptoms:** * Urticaria * Itching * Angio-oedema, with swelling around lips and eyes * Abdominal pain **Additional symptoms that indicate anaphylaxis are:** * Shortness of breath * Wheeze * Swelling of the larynx, causing stridor * Tachycardia * Light headedness * Collapse

Answer 601

* **Airway:** Swollen lips/tongue, sneezing * **Respiratory:** Wheezing, shortness of breath * **Cardiovascular:** Tachycardia, hypotension/shock, angioedema * **Gastrointestinal:** Abdominal pain, diarrhoea, vomiting * **Dermatological:** Urticaria, pruritis, flushed skin

Answer 602

* **Vasovagal reaction:** Characterized by hypotension, bradycardia, pallor, diaphoresis, and nausea. * **Panic attack:** Shortness of breath, tachycardia, sweating, tremor, and feeling of impending doom, but lacks skin involvement. * **Asthma exacerbation:** Primarily respiratory symptoms such as wheezing, cough, and breathlessness, without systemic involvement. * **Carcinoid syndrome:** Flushing, diarrhoea, abdominal pain, and wheezing due to serotonin release but generally has a more chronic course.

Answer 603

**Often Clinical Diagnosis** * Measurement of **serum levels of mast cell tryptase,** which rises within an hour **(max within 6 hours)** of onset and can confirm the diagnosis.

Answer 604

**ABCDE Approach:** **A**irway: Secure the airway **B**reathing: Provide oxygen if required. Salbutamol can help with wheezing. **C**irculation: Provide an IV bolus of fluids **D**isability: Lie the patient flat to improve cerebral perfusion **E**xposure: Look for flushing, urticaria and angio-oedema Once a diagnosis of anaphylaxis is established, there are three medications given to treat the reaction: * **Immediate Intramuscular adrenaline 1:1000** * **Non-sedating Antihistamines**, such as oral loratidine, fexofenadine or cetirizine * **Steroids**, usually intravenous hydrocortisone **Serum Mast Cell Tryptase** within 6 hours to confirm diagnosis **Post crisis:** Patients should be monitored for 6-12 hours after initial presentation in case of a rebound episode (**Biphasic reactions**)

Answer 605

**< 6 months** * 100-150 micrograms * 0.1-0.15 ml 1:1000 **6 months - 6 years** * 150 micrograms * 0.15 ml 1:1000 **6 - 12 years** * 300 micrograms * 0.3 ml 1:1000 **12 years and adults** * 500 Micrograms * 0.5 ml 1:1000

Answer 606

* Referral to specialist allergy clinic * Counselling on the use of Adrenaline Auto-Injectors (Epipen) * Allergy avoidance * Supply of two auto-injectors * Education for family and child for BLS

Answer 607

Where respiratory/cardiovascular problems persist despite 2 doses of IM adrenaline **IV fluids given for shock** **Expert help for IV adrenaline infusion is required**

Answer 608

Contact dermatitis in the nappy area. It is caused by friction between the skin and nappy and contact with urine and faeces in a dirty nappy.

Answer 609

* Most babies will get nappy rash at some point * Most common between ages of 9-12 months * Breakdown in the skin and the warm moist environment can lead to added infection with Candida or bacteria

Answer 610

* Delayed changing of nappies * Irritant soap products and vigorous cleaning * Certain types of nappies (poorly absorbent ones) * Diarrhoea * Oral antibiotics predispose to candida infection * Pre-term infants

Answer 611

* Nappy rash present with sore, red, inflamed skin in the nappy area. * The rash appears in individual patches on exposure areas of the skin that come in contact with the nappy. * It tends to **spare the skin creases**, meaning the creases in the groin are healthy. * Nappy rash is uncomfortable, may be itchy and the infant may be distressed. * Long standing rash can lead to erosions and ulceration

Answer 612

* Rash **extending into the skin folds** * Larger red macules * Well demarcated scaly border * Circular pattern to the rash spreading outwards, similar to ringworm * **Satellite lesions**, which are small similar patches of rash or pustules near the main rash * **Oral thrush**

Answer 613

* Switching to highly absorbent nappies (disposable gel matrix nappies) * Change the nappy and clean the skin as soon as possible after wetting or soiling * Use water or gentle alcohol free products for cleaning the nappy area * Ensure the nappy area is dry before replacing the nappy * Maximise time not wearing a nappy * Infection with candida or bacteria warrants treatment with anti-fungal cream (**Topical Imidazole**)

Answer 614

* Candida infection * Cellulitis * Jacquet’s erosive diaper dermatitis * Perianal pseudoverrucous papules and nodules

Answer 615

Non-blanching rashes are caused by bleeding under the skin when when pressed do not go white. **Petechiae** are small (< 3mm), non blanching, red spots on the skin caused by burst capillaries. **Purpura** are larger (3 – 10mm) non-blanching, red-purple, macules or papules created by leaking of blood from vessels under the skin.

Answer 616

Meningococcal septicaemia

Answer 617

* **Meningococcal Septicaemia** * Henoch Schonlein Puprura * Idiopathic thrombocytopenic purpura * Acute lymphoblastic leukaemia * Haemolytic Uraemic Syndrome * Trauma/NAI * Viral illness

Answer 618

**Needs immediate investigation** due to the risk of meningococcal septicaemia

Answer 619

* Septicaemia * Slapped cheek syndrome (Fifth Disease or Parvovirus B19) * Hand, foot and mouth disease * Scarlet fever * Measles * Urticaria (hives) * Chickenpox * Roseola * Rubella

Answer 620

Rapid development of a non-blanching purpuric skin rash, lethargy, headache, fever, rigors, vomiting.

Answer 621

**Slapped cheek syndrome:** Rash on both cheeks, fever, upper respiratory tract infection symptoms.

Answer 622

Blisters on hands and feet, grey ulcerations in the buccal cavity, fever, lethargy.

Answer 623

**Coarse red rash** on the cheeks, sore throat, headache, fever, **'sandpaper' texture** rash, bright red tongue.

Answer 624

* **Prodrome:** irritable, conjunctivitis, fever * **Koplik spots** (before rash): white spots ('grain of salt') on buccal mucosa * **Rash:** starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent.**Desquamation** may occur on the palms and soles after 1 week

Answer 625

Raised, itchy red rashes, usually not accompanied by fever.

Answer 626

Maculopapular vesicular rash that crusts over and forms blisters.

Answer 627

Lace-like red rash across the whole body, high fever.

Answer 628

Rash that starts on the head and spreads to the trunk, postauricular lymphadenopathy.

Answer 629

* Blood tests (CBC, Coagulation profile) * Blood cultures * Viral serology * Skin biopsy **The specific tests would depend on the child's clinical presentation and suspected diagnosis.**

Answer 630

* **Septicaemia:** Immediate broad-spectrum IV antibiotics, notify a senior paediatrician. * **Slapped cheek syndrome:** Generally self-limiting, Supportive treatment (paracetamol). * **Hand, foot, and mouth disease:** Generally self-limiting, Supportive treatment (analgesics, antipyretics, adequate fluid and nutrition). * **Scarlet fever:** Treated with antibiotics, usually phenoxymethylpenicillin for 10 days. * **Measles:** Supportive management (paracetamol), immunisation is crucial. **notify Public Health** * **Urticaria:** Antihistamines and/or steroids, identify and avoid trigger. * **Chickenpox:** Supportive treatment, antiviral treatment for high-risk groups. * **Roseola:** Self-limiting, supportive management. * **Rubella:** Self-limiting, supportive management, immunisation for prevention.

Answer 631

Also known as **mucocutaneous lymph node syndrome.** * It is a systemic, **medium-sized vessel vasculitis.** typically affecting children under 5 years old.

Answer 632

* Affects young children **Typically under 5 years** * More common in Asian children particularly **Japanese and Korean** * More common in boys

Answer 633

**Not understood** but thought to be multifactorial. ATrigger (often infection) results in an aberrant inflammatory host repsonse causing the clinical manifestations of KD.

Answer 634

**Persistent High Fever above 39 degrees for more than 5 days** * **C**onjunctivitis: Bilateral and non-exudative * **R**ash: Widespread Erythematous maculopapular rash and desquamation (skin peeling) on palms and soles * **E**rythema/oedema of hands and feed * **A**denopathy: cervical, commonly unilateral and non-tender * **M**ucosal involvement: Strawberry tongue and oral fissues.

Answer 635

* **Scarlet Fever:** Characterized by a high fever, "strawberry tongue," and a red rash with a sandpaper-like texture. * **Measles:** Presents with fever, cough, coryza, conjunctivitis, and a maculopapular rash. * **Drug Reactions:** These can cause similar skin manifestations and fever, but are often associated with the onset of a new medication. * **Juvenile Rheumatoid Arthritis:** This can cause fever and rash, as well as joint pain and swelling. * **Toxic Shock Syndrome:** This typically includes fever, rash, hypotension, and multisystem involvement.

Answer 636

**Clinical Diagnosis** No specific test **Others:** * **Full blood count** can show anaemia, leukocytosis and thrombocytosis * **Liver function tests** can show hypoalbuminemia and elevated liver enzymes * **Inflammatory markers** (particularly ESR) are raised * **Urinalysis** can show raised white blood cells without infection * **Echocardiogram** can demonstrate coronary artery pathology

Answer 637

**Acute phase:** * The child is most unwell with the fever, rash and lymphadenopathy. * This lasts 1 – 2 weeks. **Subacute phase:** * The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming. * This lasts 2 – 4 weeks. **Convalescent stage:** * The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. * This last 2 – 4 weeks.

Answer 638

* **High dose aspirin** to reduce the risk of thrombosis * **IV immunoglobulins** to reduce the risk of coronary artery aneurysms * **Regular Echocardiograms** to monitor for coronary artery aneurysms **Public health should be informed**

Answer 639

Coronary Artery Aneurysms

Answer 640

Aspirin is rarely used in children due to the risk of **Reye's Syndrome**

Answer 641

A highly contagious disease caused by the Measles morbillivirus. It is transmitted via droplets from the nose, mouth, or throat of infected persons.

Answer 642

* Most common in unvaccinated children * Prevalent in areas with low vaccination rates

Answer 643

* **Measles Morbillivirus** * Single stranded Enveloped RNA virus * Transmitted via respiratory droplets or direct contact with nasal or throat secretions of infected individuals

Answer 644

**Incubation period:** 10-14 days **Infective:** from prodrome until 4 days after rash starts Therefore School exclusion for 4 days after rash onset

Answer 645

**Prodromal phase** * Irritable * Conjunctivitis * High fever (>40 degrees) **Koplik spots** * Typically develop before the rash * white spots ('grain of salt') on the buccal mucosa **Rash** * Starts behind ears then to the whole body * Discrete maculopapular rash becoming blotchy & confluent * Desquamation that **typically spares the palms and soles may occur after a week** Diarrhoea occurs in around 10% of patients

Answer 646

* **Rubella:** Similar to measles but often milder. The rash typically begins on the face and spreads to the rest of the body. Enlarged lymph nodes, particularly behind the ears and at the back of the skull, are common. * **Roseola:** Characterized by a sudden high fever followed by a rash once the fever subsides. The rash usually starts on the chest, back, and abdomen, spreading to the neck and arms. * **Scarlet Fever:** Presents with a characteristic sandpaper-like rash, a high fever, and a sore throat. The tongue may also become red and bumpy, giving it a 'strawberry' appearance.

Answer 647

**1st:** * Measles-specific IgM and IgG serology (ELISA), * Most sensitive 3-14 days after onset of the rash. **2nd:** * Measles RNA detection by PCR, best for swabs taken 1-3 days after rash onset.

Answer 648

* Supportive care, usually involving antipyretics. * **Vitamin A administration for all children under 2 years.** * **Ribavirin** may reduce the duration of symptoms but is not routinely recommended due to the potential side effects. * Avoid school for at least 5 days after initial onset of rash **Notify Public Health**

Answer 649

* **Otitis Media**(most common complication) * **Pneumonia** (most common cause of death) * Febrile Convulsions * Encephalitis

Answer 650

An acute infectious disease caused by the varicella-zoster virus (VZV), a member of the human herpes virus family. This highly contagious illness, predominantly seen in children, is characterised by a vesicular rash, mild fever, and malaise.

Answer 651

* More severe cases in the mother, such as varicella pneumonitis, hepatitis or encephalitis * Foetal varicella syndrome * Severe neonatal varicella infection (if infected around delivery)

Answer 652

* Very common disease globally * Majority of cases occur in children aged 1-9 years * Highly contagious with 90% secondary infection rate in susceptible household contacts * Usually mild in children but can be severe in adults or immunocompromised.

Answer 653

The aetiology of chickenpox is the varicella virus, specifically human herpes virus 3 (HHV3). The virus is airborne and spreads through direct contact with the rash or by breathing in particles from an infected person's sneezes or coughs.

Answer 654

**fever initially** * itchy, rash **starting on head/trunk** before spreading. Initially macular then papular then vesicular * Fluid filled blisters form which then crust over * systemic upset is usually mild, irritability, reduced appetite, generalised discomfort

Answer 655

* **Herpes simplex:** Characterised by painful, grouped vesicles on an erythematous base, usually around the mouth or genital area. * **Hand, foot, and mouth disease:** Presents with a rash on the hands, feet, and inside the mouth, often alongside fever and malaise. * **Scabies:** Manifests as intense itching, especially at night, and a pimple-like rash.

Answer 656

**Clinical Diagnosis**

Answer 657

**Conservative Management:** * Symptom control: Analgesics, antipyretics, wear long clothing and cut nails to prevent scratching * Avoid School until lesions have crusted over * Immunocompromised may be give IV Aciclovir

Answer 658

IgG levels for VZV can be tested. If positive this indicates immunity, If negative then women can be offered the varicella vaccine

Answer 659

Treated with Oral Aciclovir if they present within 24 hours of rash onset and are more than 20 weeks gestation

Answer 660

* Secondary bacterial skin infections due to scratching * Pneumonia (more common in adults) * Encephalitis (rare) * Reye's syndrome (a severe complication, primarily in children) * Congenital varicella syndrome (if infection occurs during early pregnancy) * Reactivation of the virus as herpes zoster (shingles) later in life

Answer 661

Also known as German measles, is a contagious viral illness. It is caused by the **rubella togavirus** and transmitted through respiratory droplets.

Answer 662

* Less common due to widespread vaccination * Often occurs in winter and spring * Highest prevalence in the unvaccinated

Answer 663

**Rubella togavirus**, which is transmitted via respiratory droplets or aerosols. Children are routinely vaccinated for rubella as part of the **MMR Vaccine** starting at 12 months of age

Answer 664

**Congenital Rubella Syndrome** * Congenital Deafness (sensorineural) * Congenital Cataracts * Congenital heart disease (PDA and Pulmonary Stenosis) * Learning disability

Answer 665

**Incubation period is 14-21 days** **Infectious from 7 days before symptoms to 4 days after rash onset** * Fever (low grade) * Coryza * Arthralgia * A rash that typically begins on the face and moves down to the trunk, **sparing the limbs** * Lymphadenopathy, classically **Suboccipital post-auricular**

Answer 666

* **Measles:** Fever, cough, conjunctivitis, coryza, Koplik spots, and a rash that typically begins at the hairline and moves downwards to involve the entire body, including the limbs. * **Scarlet fever:** Sudden onset of fever, sore throat, "strawberry" tongue, and a fine, sandpaper-like rash, most often on the neck, underarm, and groin. * **Fifth disease (Erythema infectiosum):** A mild illness that might cause a "slapped cheek" rash on the face and a lacy red rash on the trunk and limbs, often after a few days of mild fever or cold-like symptoms.

Answer 667

**Serological Testing** * Rubella specific IgM or a rise in Rubella specific IgG

Answer 668

**supportive Treatment:** * Analgesics and Anti-pyretics

Answer 669

It is a live vaccine and therefore may induce Congenital Rubella Syndrome. They should be vaccinated after giving birth

Answer 670

**Serious risk to unvaccinated pregnant women** for Congenital Rubella Syndrome causing: * Cataracts * Deafness * Patent ductus arteriosus * Brain damage

Answer 671

A toxin-mediated bacterial disease caused by **gram positive bacterium Corynebacterium diphtheriae.**

Answer 672

* Unvaccinated individuals * Inadequately vaccinated individuals * Exposure to an infected individual * Travel from endemic areas

Answer 673

Generally been eradicated in the UK due to vaccination

Answer 674

Exotoxin mediated condition affecting mucus membranes and inhibiting protien synthesis

Answer 675

* Child with severe sore throat and fever for 2 days * Lymphadenopathy in neck * Rapid breathing may present as Stridor * Thick greyish membrane on tonsils

Answer 676

**Throat swabs and Bacterial Culture and Microscopy** * Blood agar containing potassium tellurite (**Hoyle's/Tinsdale Media**) * Shows **irregular Gram positive Rods** * Staining shows **Metachromatic granules** **Elk Test for toxins** **PCR**

Answer 677

* Diphtheria Antitoxin * Erythromycin

Answer 678

A severe desquamating rash that primarily affects neonates <48 hours old caused by a type of Staphylococcal aureus bacteria that produces **epidermolytic toxins**.

Answer 679

* Most commonly affects neonates <48 hours old * Affects infants **particularly under 6** due to their immature renal clearance * Can occur in adults with renal insufficiency or immune compromise

Answer 680

* SSSS occurs due to the production of an **exfoliative exotoxin** by Staphylococcus aureus. * This exotoxin splits the epidermis in the **granular cell layer**, **specifically targeting desmoglein 1.** * It is on the same spectrum as impetigo, with the layer of skin involved being the same.

Answer 681

* Fever * Malaise * **Generalised patches of erythema which become fluid filled blisters (bullae) that burst** * skin looks thin an wrinked * Skin appears similar to a burn/scald * Areas of epidermis separate on gentle pressure **(Nikolsky sign)** leaving denuded areas of skin which then dry and heal without scarring

Answer 682

* **Toxic Epidermal Necrolysis (TEN):** manifests with widespread erythema and necrosis, leading to detachment of the epidermis. It involves mucous membranes, which differentiates it from SSSS * **Pemphigus vulgaris:** characterised by flaccid blisters and erosions on the skin and mucous membranes; Nikolsky sign is also positive * **Bullous Impetigo:** typically presents with localized bullae filled with pus, often with surrounding erythema and tenderness

Answer 683

**Clinical Diagnosis** * Skin biopsy can help differentiate it from other conditions such as TEN

Answer 684

**IV Antibiotics** **Fluid and electrolyte balance** to prevent dehyration

Answer 685

Poliomyelitis is caused by poliovirus infection which results in a minor GI illness in 95% of cases. Occasionally it can result in the major illness Acute flaccid Paralysis.

Answer 686

* **Unvaccinated** * Poor sanitation * Poverty * Endemic area

Answer 687

* **Asymptomatic in 95% of cases** * Minor GI illness * Major Acute Flaccid Paralysis in less than 5% of cases

Answer 688

Diagnosed with Viral culture from stool or CSF analysis. Antibodies against poliovirus **No cure for polio** so supportive treatment

Answer 689

A chronic caseating granulomatous disease caused by Mycobacterium tuberculosis.

Answer 690

* 1/3 of the global population has latent TB infection * More than 95% of deaths due to TB occur in low- and middle-income countries, where it is a leading cause of mortality * Lifetime risk of reactivating TB is 5–15%; in the setting of HIV, it is 5–15% per year * HIV testing is mandatory in TB as it increases the risks of extrapulmonary TB and the difficulty treating it * The incidence of TB in the UK is high compared with other Western countries (13.9/100,000 in 2012)

Answer 691

TB is transmitted by inhalation of droplets infected with M. tuberculosis. These droplets are produced by infected patients when they cough – infective organisms can survive for long periods of time in the environment.

Answer 692

MTC organisms = TB causing: M. tuberculosis M. africanum M. microtis M. bovis (from unpasteurised milk)

Answer 693

* **Gram Positive Rod Bacilli** * Non motile + non spore forming * **Mycolic acid capsule: Acid fast staining (w/ Zeihl Nieelsen)** Resistant to phagocytic killing. Slow growing (15-20 hrs)

Answer 694

* Close contact with active tuberculosis (e.g., a household member) * Immigrants from areas with high tuberculosis prevalence * People with relatives or close contacts from countries with a high rate of TB * Immunocompromised (e.g., HIV or immunosuppressant medications) * Malnutrition, homelessness, drug users, smokers and alcoholics

Answer 695

**Immediate clearance** of the bacteria (in most cases) **Primary active tuberculosis** (active infection after exposure) **Latent tuberculosis** (presence of the bacteria without being symptomatic or contagious) **Secondary tuberculosis** (reactivation of latent tuberculosis to active infection) **Miliary tuberculosis** (When the immune system cannot control the infection, disseminated and severe disease can develop)

Answer 696

Latent tuberculosis is present when the immune system encapsulates the bacteria and stops the progression of the disease. Patients with latent tuberculosis have no symptoms and cannot spread the bacteria. Most otherwise healthy patients with latent tuberculosis never develop an active infection. When latent tuberculosis reactivates, and an infection develops, usually due to immunosuppression, this is called secondary tuberculosis.

Answer 697

* Lymph nodes * Pleura * Central nervous system * Pericardium * Gastrointestinal system * Genitourinary system * Bones and joints * Skin (cutaneous tuberculosis)

Answer 698

**Subacute to chronic in onset** Symptoms depend on the main site of infection, but are usually accompanied by: * **night sweats, Fever, Weight loss** * Chronic cough (>3 weeks) productive of purulent sputum * Haemoptysis (coughing up blood) * Lethargy * Lymphadenopathy * **erythema nodosum** * Spinal Tuberculosis (Spinal pain)

Answer 699

**Active TB Investigations:** *Chest X-ray* * upper lobe cavitation * bilateral hilar lymphadenopathy *Sputum Smear* * 3x specimens needed * Rapid and inexpensive * Stained with Zhiel Neelsen for AFB *Sputum Culture* * **Gold Standard** * Take 1-3 weeks * Grown on **lowenstein Jensen Agar** *Nucleic acid amplification tests (NAAT)* * Allows rapid diagnosis (within 24-48 hours) * More sensitive than smear but less sensitive than culture **Latent TB Screening:** *Mantoux Test* * Intradermal injection of Tuberculin protien * < 5mm: Negative test (no exposure) * > 5 mm: indicates exposure either latent TB or Active disease *Interferon Gamma Release Assay* * Used to confirm Mantoux test or if highly suspected but test is equivocal

Answer 700

Auscultation - often normal (may have crackles) Consolidation in lung Lung Collapse Clubbing

Answer 701

The Mantoux test involves injecting tuberculin into the intradermal space on the forearm. Tuberculin is a collection of tuberculosis proteins isolated from the bacteria. It does not contain any live bacteria. The infection creates a bleb under the skin. After 72 hours, the test is “read”. This involves measuring the induration of the skin at the injection site. An induration of 5mm or more is considered a positive result. it will have a positive result from the BCG vaccine

Answer 702

**Initial phase - first 2 months (RIPE)** * Rifampicin * Isoniazid * Pyrazinamide * Ethambutol **Continuation phase - next 4 months** * Rifampicin * Isoniazid **Meningeal/CNS Tuberculosis:** * Treatment for 12 months * Additional steroids

Answer 703

Isoniazid and rifampicin for 3 months Isoniazid for 6 months **Plus Pyridoxine to prevent peripheral neuropathy caused by Isoniazid**

Answer 704

* Testing for other infectious diseases (e.g., HIV, hepatitis B and hepatitis C) * Testing contacts for tuberculosis (Contact tracing) * Notifying UK Health Security Agency (UKHSA) of suspected cases * Isolating patients with active tuberculosis to prevent spread (usually for at least 2 weeks of treatment) * A specialist MDT guides management and follow-up * Individualised regimes are required for multidrug‑resistant tuberculosis and extrapulmonary disease

Answer 705

* Liver toxicity * Hepatic enzyme (p450) inducer – must check interaction with other medications * **Turns bodily fluids a red/orange colour** * Haemolysis

Answer 706

* Peripheral neuropathy (pyridoxine is given to prevent this) * Liver toxicity * Agranulocytosis * Liver enzyme inhibitor

Answer 707

* Liver toxicity * Athralgia * Hyperuricaemia causing **Gout**

Answer 708

* Optic neuritis (Check acuity before and during treatment) * Avoid in chronic kidney disease

Answer 709

Bacillus Calmette Guerin (BCG) * A live attenuated vaccine of Mycobacterium bovis bacteria. * Before vaccination the Mantoux test is done and the vaccine is only given if the test is negative.

Answer 710

Inflammation of the meninges from both infective and non-infective causes. This is a notifiable condition to PHE

Answer 711

Viral: **Enterovirus (coxsackie) HSV2 VZV** Bacterial: **N. Meningitidis S. pneumonia** Fungal: Cryptococcus Neoformans (primary in the immunosuppressed population) Parasitic: Amoeba, Toxoplasma Gondii

Answer 712

Viral infection (Most commonly **enteroviruses**) More common but less severe than bacterial causes.

Answer 713

**Extremes of age (Infant < 5 years/elderly)** **Immunocompromised** **IV drug users** Pregnancy Travel Crowded environment - barracks/uni Non-vaccinated

Answer 714

**0-3 months:** * Group B Streptococcus (most common cause in neonates) * E. coli * Listeria monocytogenes **3 months - 6 years:** * Neisseria meningitidis * Streptococcus pneumoniae * Haemophilus influenzae **6 years - 60 years:** * Neisseria meningitidis * Streptococcus pneumoniae **>60 years:** * Neisseria meningitidis * Streptococcus pneumoniae * Listeria monocytogenes **Immunosuppressed** * Listeria monocytogenes * Mycobacterium tuberculosis

Answer 715

N. Meningitidis - Men B + Men C + Men ACWY S. pneumoniae - PCV Vaccine

Answer 716

**Symptoms** * headache * fever * nausea/vomiting * photophobia * drowsiness * seizures **Signs** * neck stiffness * purpuric rash (particularly with invasive meningococcal disease) **Meningism Triad: Fever, Headache, Neck stiffness**

Answer 717

**Kernig's Sign:** When the hip is flexed and the knee is at 90°, extension of the knee results in pain **Brudzinski Sign:** Severe neck stiffness causes the hips and knees to flex when the neck is flexed

Answer 718

**1st Line: Bloods** * full blood count * renal function * glucose * lactate * clotting profile * CRP **Lumbar Puncture (LP) + CSF Analysis (Gold Standard)** * glucose, protein, microscopy and culture * lactate * meningococcal and pneumococcal PCR * enteroviral, herpes simplex and varicella-zoster PCR

Answer 719

**Signs of raised ICP** * focal neurological signs * Papilloedema * significant bulging of the fontanelle * signs of cerebral herniation * GCS < 9 * disseminated intravascular coagulation * Meningococcal Septicaemia

Answer 720

Between L3/L4 Since spinal cord ends L1/2

Answer 721

* Malignancies such as leukemia, lymphoma, and other tumors * Chemical meningitis * Certain drugs, including NSAIDs and trimethoprim * Systemic inflammatory diseases such as sarcoidosis, * Systemic Lupus Erythematosus, Behcet's disease.

Answer 722

Group B Streptococcus - **Streptococcus Agalactiae** E.coli Strep. pneumonia Listeria

Answer 723

Bacterial Meningococcal Septicaemia: This rash indicates the infection has caused disseminated intravascular coagulopathy (DIC) and subcutaneous haemorrhages.

Answer 724

Neonates and babies can present with very non-specific signs and symptoms: * Hypotonia * Poor feeding * Lethargy * Hypothermia * **Bulging Fontanelle.**

Answer 725

A Lumber Puncture in all children: * Under 1 month presenting with fever * 1 to 3 months with fever and are unwell * Under 1 year with unexplained fever and other features of serious illness

Answer 726

blood cultures and PCR for meningococcus should be obtained.

Answer 727

* Sepsis * Encephalitis * Subarachnoid Haemorrhage * Brain Abscess * Sinusitis * Migraine

Answer 728

Fungal: * Lymphocytosis * Increased Protein Concentration * Decreased Glucose Concentration

Answer 729

STAT dose of **IM Benzylpenicillin** and immediate transfer to hospital In True Penicillin allergy then immediate transfer to hospital

Answer 730

1. **IV access - take bloods and blood cultures** 2. **Lumbar Puncture** if can be performed in first hour (otherwise Abx) 3. **Antibiotics:** * IV Ceftriaxone (> 3 months) * IV Cefotaxime + IV Amoxicillin (<3 months) 4. **IV Dexamethasone** * NOT given to children < 3 months * Prevent neurological sequelae 5. **IV Fluids** if signs of shock 6. **Cerebral monitoring** and respiratory ventilation if impairment 7. **Public health notification and Contact Tracing**

Answer 731

Under 3 Months: **IV Cefotaxime and IV Amoxicillin** (covers for listeria) 3 Months - 50 years: **IV Ceftriaxone** > 50 years: **IV Ceftriaxone and IV amoxicillin**

Answer 732

Chloramphenicol

Answer 733

Contact Tracing: * This risk is highest for people that have had **close prolonged contact within the 7 days prior to the onset of the illness.** * The risk decreases 7 days after exposure. Therefore, if no symptoms have developed 7 days after exposure they are unlikely to develop the illness. **A single dose of ciprofloxacin. It should be given as soon as possible and ideally within 24 hours of the initial diagnosis.**

Answer 734

Usually only requires Supportive treatment **Acyclovir** can be used to treated suspected or confirmed HSV/VZV infections

Answer 735

* Hearing loss is a key complication * Seizures and epilepsy * Cognitive impairment and learning disability * Memory loss * Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity * Septic Shock and DIC * Coma and Death

Answer 736

Encephalitis is a pathological condition characterised by inflammation of the brain parenchyma, also known as the "encephalon".

Answer 737

* Predominantly Viral Infection * Bacterial and fungal pathogens can also lead to encephalitis (Rarely in the UK) * Autoimmune Encephalitis - NMDA receptor antibodies

Answer 738

**Herpes Simplex Virus Type 1 (HSV-1)** Others: * HSV-2 * CMV * EBV * VZV * HIV

Answer 739

* **Altered Mental Status** * Fever * Flu-like prodromal illness * Seizures * Acute onset Focal neurological deficits * Headaches * Behavioural changes

Answer 740

**Encephalitis should be suspected in any patient presenting with sudden onset behavioural changes, new seizures, and unexplained acute headache** * A routine panel of blood tests * Blood cultures and viral PCR * **Lumbar Puncture + Cerebrospinal fluid (CSF) analysis with viral PCR** * Consideration for malaria blood films in case of exposure risk **CNS Imaging: CT/MRI**

Answer 741

Temporal lobes affected Bilateral Multifocal Haemorrhage

Answer 742

Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause: **Aciclovir** treats herpes simplex virus (HSV) and varicella zoster virus (VZV) **Ganciclovir** treats cytomegalovirus (CMV) Supportive management of complications: Anti-convulsant for seizures

Answer 743

**Common** * Generalised fatigue/malaise * Gastrointestinal disturbance * Photosensitivity and urticarial rash Others: * Acute renal failure * Haematological abnormalities * Hepatitis * Neurological reactions

Answer 744

**Lasting fatigue and prolonged recovery** Change in personality or mood Changes to memory and cognition Learning disability **Headaches** Chronic pain Movement disorders Sensory disturbance **Seizures** Hormonal imbalance

Answer 745

**Neisseria meningitidis Streptococcus pneumonia**

Answer 746

* Risk of DIC * Risk of **Waterhouse Friedrichsen Syndrome**

Answer 747

Adrenal insufficiency caused by intra-adrenal haemorrhage as a result of meningococcal DIC

Answer 748

**Fifth Disease or Erythema infectiosum or Slapped Cheek Syndrome** A viral illness caused by Parvovirus B19

Answer 749

* Most commonly occurs in Children * widespread and can occur in outbreaks, particularly in school settings. * It is most common in late winter and early spring.

Answer 750

* A DNA Virus infection that specifically targets the erythroid progenitor cells and thus has certain haematological complications Can lead to aplastic anaemias and hydrops fetalis in pateints with sickle cell/thalassaemia and during pregnancy respectively

Answer 751

* **Non-specific fever prodrome for a few days** * 2-5 days later a diffuse bright red rah on cheeks appears (**Slapped cheeks**) * A few days later a Reticular lace like rash across the body * Rash resolves after a week * May also have diarrhoea and coryzal symptoms **Does not require school exclusion**

Answer 752

* **Rubella:** presents with a similar rash, but also includes lymphadenopathy and conjunctivitis * **Scarlet fever:** presents with a similar rash, but also includes a sore throat and a 'strawberry' tongue * **Roseola:** presents with a high fever followed by a rash, but the rash is typically non-pruritic and pink in colour

Answer 753

**Clinical diagnosis** * Serological testing may also be performed

Answer 754

**Supportive management** * Rest * Hydration * OTC remedies for fever and itching. * Rarely requiring hospital admission

Answer 755

* **Red cell aplasia/aplastic crisis:** Parvovirus infection reduces erythropoiesis, which can precipitate severe anaemia and aplastic crisis in vulnerable groups like those with conditions like sickle cell anaemia and hereditary spherocytosis. * **Hydrops fetalis:** parvovirus B19 in pregnant women can cross the placenta in pregnant women. This causes severe anaemia due to viral suppression of fetal erythropoiesis → heart failure secondary to severe anaemia → the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This i treated with intrauterine blood transfusions * **Cardiomyopathy**

Answer 756

Typically occur in 1st and 2nd trimesters (Prior to 20 weeks) * Miscarriage or fetal death * Severe foetal anaemia * **Hydrops fetalis (foetal heart failure)** * Maternal pre-eclampsia-like syndrome (**Mirror Syndrome**)

Answer 757

A highly contagious superficial epidermal infection of the skin primarily caused by Staphylococcal and Streptococcal bacteria. It often causes a Golden crust lesion

Answer 758

**Non-Bullous** * Occurs around nose or mouth * Exudate from lesions forms a **Golden crust** * Does not cause systemic symptoms. **Bullous** * Always caused by **Staph aureus** * Epidermolytic toxins break down proteins in skin causing 1-2cm fluid vesicles that burst and form a golden crust. * Common to have systemic symptoms * May progress to Staphylococcal scalded skin syndrome

Answer 759

* Commonly occurs in infants and school aged children * More common during warmer weather * Can affect individuals of any age * **Bullous impetigo is more common in neonates and children under 2**

Answer 760

* **Staphylococcal aureus** * **Group A Strep (Strep pyogenes)** * Bacteria invade the skin through minor cutes, insect bites, or abrasions leading to infection.

Answer 761

* 'Golden', crusted skin lesions typically found around the mouth * Very contagious * Impetigo may be bullous (causing large blisters) or non-bullous (causing sores) * **bullous** impetigo tends to cause systemic symptoms

Answer 762

* **Eczema Herpeticum:** Presents with rapid onset of painful, punched-out erosions with or without vesiculation on a background of atopic dermatitis. It may also exhibit systemic symptoms like fever and malaise. * **Herpes Simplex Virus (HSV) infection:** This may manifest as grouped vesicles on an erythematous base, usually accompanied by pain and itching. It can also cause systemic symptoms. * **Contact Dermatitis:** This involves erythematous, pruritic rash, usually in a pattern suggestive of a contact allergen. * **Tinea Corporis (Ringworm):** Exhibits annular erythematous scaly plaques, often with central clearing.

Answer 763

**Clinical Diagnosis** * May use a **skin swab** for necessary MC&S

Answer 764

**Non-Bullous Impetigo** Non-pharmacological: * Advice about hand hygiene * Avoid sharing towels and cutlery * School exclusion until lesions healed or 48 hrs after Abx * Avoid scratching Pharmacological: * 1st Line: Hydrogen Peroxide 1% Cream * 2nd Line: Topical fusidic acid * 3d Line: Oral Flucloxacillin for more wide spread or severe **Bullous Impetigo:** * Swabs of vesicles to confirm diagnosis, bacteria and Abx Sensitivities * **Oral/IV flucloxacillin**

Answer 765

* Cellulitis if the infection gets deeper in the skin * Sepsis * Scarring * Post streptococcal glomerulonephritis * **Staphylococcus scalded skin syndrome** * Scarlet fever

Answer 766

* A severe, life-threatening condition characterized by the sudden onset of shock, multi-organ failure, and rash. * It is an exotoxin-mediated multisystemic illness primarily caused by Streptococcus (usually group A), Staphylococcus aureus and MRSA.

Answer 767

* Historically associated with tampon use in menstruating women until manufacturers modified the absorbency levels. * Currently, it is attributed to various infections. * Adults are typically more affected than children.

Answer 768

Caused by the exotoxin (Toxic Shock Toxin TSST-1 super-antigen) produced by certain strains of bacteria: * All Group A Strep * some Staphylococcus aureus This causes polyclonal T cell activation and massive cytokine release, notably IL-1 and TNF-alpha, leading to shock and multi-organ failure.

Answer 769

* Diabetes Mellitus * Staphylococcal cellulitis * Wounds (especially burns) * Alcoholism and intravenous drug use * HIV * Tampon use or gynaecological infections (though less common now)

Answer 770

* fever: temperature > 38.9ºC * hypotension: systolic blood pressure < 90 mmHg * diffuse erythematous rash * desquamation of rash, especially of the palms and soles * involvement of **three or more** organ systems: e.g. gastrointestinal (diarrhoea and vomiting), mucous membrane erythema, renal failure, hepatitis, thrombocytopenia, CNS involvement (e.g. confusion)

Answer 771

* Sepsis Six * Throat swabs, wound swabs, or swabs from the suspected initial infection site.

Answer 772

* **Meningococcal septicemia:** Rapid onset, fever, limb pain, cold hands and feet, abnormal skin color. * **Stevens-Johnson Syndrome:** Fever, sore throat, fatigue, eye irritation, skin pain, red or purplish skin rash. * **Kawasaki disease:** Fever lasting more than five days, rash, swollen lymph nodes, swollen hands and feet, red eyes.

Answer 773

**ABCDE Approach** * **removal of infection focus** (e.g. retained tampon) * **IV fluids** * **IV Antibiotics:** Generally clindamycin + Cephalosporin/carbapenem for broad spectrum coverage * **Surgical** debridement or drainage

Answer 774

An infectious disease caused by toxin producing strains of Streptococcus Pyogenes (Group A Strep)

Answer 775

* Highly contagious and transmitted through infected saliva or mucus * Common in neonates * common in those of 2-8 years

Answer 776

* Neonates * Immunocompromised * Concurrent chickenpox or influenza

Answer 777

* Initial sore throat, Fever (24-48 hrs), Headache, fatigue * **Pinpoint sandpaper like blanching rash** on trunk initially then spreads to the rest of the body (**Sparing palms and soles**) * **strawberry tongue** * Cervical Lymphadenopathy

Answer 778

**Clinical Diagnosis** Throat swab is often taken but antibiotics are started before results

Answer 779

* **Oral Antibiotics:** PenicillinV (phenoxymethylpenicillin) for 10 days * Azithromycin in pen allergy * Notify Public Health * School exclusion until 24 hours after commencing antibiotics

Answer 780

**Hand Foot and Mouth** disease is caused by the Coxsackie A virus part of the enterovirus family.

Answer 781

* Starts with Upper Respiratory Tract symptoms such as **tirdness, sore throat and dry cough** * Fever * After 1-2 days, small mouth ulcers appear followed by blistering vesicular red spots across the body * These are most notable on the **Hands, Feed and mouth**

Answer 782

**Clinical diagnosis**

Answer 783

**No Treatment** * Supportive management with adequate fluids and simple analgesia * Rash and illness will resolve spontaneously after a week to 10 days * It is highly contagious and so measures to avoid transmission should be taken

Answer 784

Human Immunodeficiency Virus that causes the infection that makes someone HIV positive. AIDS refers to the acquired immunodeficiency syndrome that occurs at the end stages of a HIV infection, once the infection has affected the immune system enough to make the person susceptible to recurrent and unusual infections. AIDS is usually referred to in the UK as late stage HIV.

Answer 785

gp41 gp120 **Encoded by env**

Answer 786

p15 p17 p24 (useful in the diagnosis of primary HIV infection) **Ecoded by gag**

Answer 787

Integrase Ribonuclease Reverse transcriptase Protein (These are key mechanisms targeted by anti-retroviral therapies) **Encoded by pol**

Answer 788

Single stranded RNA retrovirus

Answer 789

**Primary infection (weeks-months post-exposure):** * Can occur between 2-12 weeks post-exposure * Rapidly rising viral load * Decreasing CD4+ count * HIV seroconversion: acute illness, fever/night sweats, maculopapular rash, lymphadenopathy, ulcers (mouth/genital), neurological involvement (meningoencephalitis/transverse myelitis). **Latent period (up to 10 years):** * Low viral load * Stable CD4+ count (usually not below 350x10^6/L) **Symptomatic period:** * Gradually rising HIV viral load * Gradually decreasing HIV CD4+ count * Characterised by systemic symptoms: * Weight loss * Fever/night sweats * Increased risk of opportunistic infections (varies depending on the CD4+ count) **Acquired immunodeficiency syndrome:** * End-stage HIV * Defined by a CD4+ count <200x10^6/L and/or the development of one or more opportunistic infections

Answer 790

**CD4 <500 ul (Not AIDs but HIV opportunistic infections)** * Mycobacteria Tuberculosis * Kaposi Sarcoma - HHV8 * Coccidiodomycosis * Cervical Cancer **AIDs defining illnesses:** **CD4 <200 ul (the 3 Ps)** * Pneumocystis pneumonia * Progressive multifocal Leukoencephalopathy * Histo**p**lasmosis **CD4 < 100ul: (4 Cs)** * Candidiasis - eosophageal * Cerebral Toxoplasmosis * Cryptococcus * Cryptosporidiosis **CD4 < 50ul:** * CNS lymphoma * CMV * Mycobacterium Avium Complex (MAC) infection

Answer 791

* Unprotected anal, vaginal or oral sexual activity * Mother to child at any stage of pregnancy, birth or breastfeeding. This is referred to as vertical transmission. * Mucous membrane, blood or open wound exposure to infected blood or bodily fluids. (This could be through sharing needles, needle-stick injuries or blood splashed in an eye).

Answer 792

* Fever * Lymphadenopathy * Maculopapular rash (commonly found on the upper chest) * Mucosal ulcers * Myalgia * Arthralgia * Fatigue * **Rarely will this rapidly progress to AIDs within a year**

Answer 793

* **Influenza:** Characterised by sudden onset fever, cough, headache, muscle and joint pain, severe malaise, sore throat, and a runny nose. * **Mononucleosis (Epstein-Barr virus or cytomegalovirus):** Typically presents with fever, pharyngitis, lymphadenopathy, and fatigue. * **Acute streptococcal pharyngitis:** Symptoms include sore throat, fever, headache, abdominal pain, nausea, and vomiting. * **Viral hepatitis:** May present with jaundice, fatigue, nausea, fever, and muscle aches.

Answer 794

* Affects 2 million children per year * Main route of transmission is Mother-child during pregnancy, at delivery or through breast feeding.

Answer 795

**Babies at 3 months: in HIV positive parents** * HIV viral load test at 3 months: if negative the child has not contracted HIV * HIV antibody test at 24 months: If the 3 month test is negative and they are not breast fed this should also be negative. **Children over 18 months** * Presence of HIV antibodies is diagnostic **Children Under 18 months:** * HIV DNA PCR is needed as antibodies may be present from exposure to maternal antibodies not active infection

Answer 796

* **Antiretroviral therapy (ART)** to suppress the HIV infection * Normal childhood vaccines, avoiding or delaying live vaccines if severely immunosuppressed. * Prophylactic co-trimoxazole (Septrin) for children with low CD4 counts, to protect against pneumocystis jirovecii pneumonia (PCP) * Treatment of opportunistic infections **Paediatric HIV MDT involvement**

Answer 797

**Mode of delivery will be determined by the mother viral load:** * **Normal vaginal delivery** is recommended for women with a viral load < 50 copies / ml * **Caesarean sections** are considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml * **IV zidovudine** should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml **Prophylaxis Treatment:** * May be given to the baby depending on the mothers viral load * **Mums Viral load < 50 copies per ml:** Zidovudine for 4 weeks * **Mums Viral Load > 50 copies per ml:** Zidovudine, lamivudine and nevirapine for 4 weeks

Answer 798

HIV can be transmitted during breast feeding even if the mother's viral load is undetectable. Breastfeeding is **never recommended** for mothers with HIV.

Answer 799

* Babies to HIV positive parents * When immunodeficiency is suspected * Young people who are sexually active can be offered testing if there are concerns * Risk factors such as needle stick injuries, sexual abuse or IV drug use.

Answer 800

Reverse transcriptase inhibitors - nucleoside/non-nucleoside Protease inhibitors Fusion inhibitors

Answer 801

* 2 Nucleoside reverse transcriptase inhibitors + 1 non-nucleoside reverse transcriptase inhibitor * 2 Nucleoside reverse transcriptase inhibitors + 1 Protease inhibitor

Answer 802

Secondary Syphilis

Answer 803

CD4+ T cell count/ul HIV Viral load (RNA copies/ml)

Answer 804

CD4 T cells Dendritic cells, macrophages, astrocytes

Answer 805

1️⃣ Glycoproteins on HIV molecule (gp160; formed of gp120 and gp41) allow it to adhere to: * CD4 receptors (gp120 and gp41 receptors) * CCR5 receptors on Macrophages * CXCR4 Receptors on CD4 T cells 2️⃣ Once viral capsid enters cell, viral enzymes and nucleic acid are uncoated and released. 3️⃣ Using reverse transcriptase, single stranded RNA is converted into double-stranded DNA. 4️⃣ Viral DNA then is integrated into cell own DNA through the action of integrase enzyme. 5️⃣ When infected cell divides the viral DNA is transcribed, producing long chains of viral proteins. Whilst infected cell is replicated, the viral DNA also replicates alongside. 6️⃣ Viral RNA is spliced and the protein chains are cleaved and reassembled by protease enzyme into individual proteins - these combine to form a functioning virus. 7️⃣ The immature virus exocytosed, taking some cell membrane with it to form a new lipid envelope 8️⃣ Once outside of the cell, the virus undergoes further maturation.

Answer 806

Innocent murmurs are also known as flow murmurs. They are caused by **fast blood flow** through various areas of the heart **during systole**. **Innocent Features:** (The S's) * Short * Soft * Systolic * Symptomless * Situational - Murmurs get quieter with standing or only appear when the child is unwell.

Answer 807

* Murmur louder than 2/6 * Diastolic murmurs * Louder on standing * Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath

Answer 808

**Ventricular Septal Defect** * Harsh Holo/pansystolic Murmur * Heard best at left lower sternal border **Atrial Septal Defect:** * Ejection Systolic Murmur * Fixed-split loud S2 * Heard best left upper sternal border **Patent Ductus Arteriosus** * Continuous "Machinery" like Murmur * Heard best left infraclavicular area or left upper sternal border * Bounding pulse and wide pulse pressure **Tetralogy of Fallot** * Harsh Ejection systolic murmur * Due to right ventricular outflow tract obstruction caused by pulmonary stenosis * Heard best left upper sternal border

Answer 809

An atrial septal defect (ASD) is a cardiac malformation where a hole exists between the left and right atria. This is due to a defect in the septum secundum during cardiac embryonic development.

Answer 810

More prevalent in females compared to males

Answer 811

Atrial septal defects arise due to defects in the development of the septum primum and secondum (as well as the foramen ovale) An atrial septal defect leads to a shunt, with blood moving between the two atria. Blood moves from the left atrium to the right atrium because the pressure in the left atrium is higher than the pressure in the right atrium. This means blood continues to flow to the pulmonary vessels and lungs to get oxygenated and the patient does not become cyanotic, however the increased flow to the right side of the heart leads to right sided overload and right heart strain. This right sided overload can lead to right heart failure and pulmonary hypertension. However pulmonary hypertension can cause the pulmoary pressure to exceed the systemic pressure resulting in the shunt reversing and forming a right to left shunt across the ASD. This causes to blood bypass the lungs and the patient becomes cyanotic (**Eisenmenger Syndrome**)

Answer 812

Septum primum and Septum secondum.

Answer 813

It is a hole in the Septum Secondum that usually closes at birth.

Answer 814

* **Ostium secondum (70%)** The septum secondum fails to fully close * **Patent foramen ovale** The foramen ovale fails to close (although this not strictly classified as an ASD). * **Ostium primum** The septum primum fails to fully close, leaving a hole in the wall. This tends to lead to atrioventricular valve defects making it an atrioventricular septal defect.

Answer 815

* **Ejection systolic murmur, fixed splitting of S2** * Its often asymptomatic but can present with: * Shortness of breath * Difficulty feeding * Poor weight gain * Lower respiratory tract infections ASD are more likely to be asymptomatic compared to VSDs, even if larger.

Answer 816

Dyspnoea Heart failure Stroke

Answer 817

Both genetic and environmental factors can play a role e.g. * **Genetic abnormalities (Downs, Digeorge)** * Maternal alcohol consumption * Rubella infection during pregnancy * Maternal diabetes,

Answer 818

**Ventricular septal defect** Characterised by a loud holosystolic murmur at the left lower sternal border, possible cyanosis, and potentially failure to thrive in infants. **Patent ductus arteriosus** Noted by a continuous "machinery" murmur, wide pulse pressure, and bounding pulses. **Pulmonic stenosis** Presents with a systolic murmur at the left upper sternal border, and there may be cyanosis with severe stenosis.

Answer 819

Transthoracic Echocardiogram - Revealing abnormal blood flow between the atria

Answer 820

If ASD is small and asymptomatic then **watching and waiting**. If the ASD is more severe then **surgical correction** may be necessary: * Transvenous catheter closure (via the femoral vein) or * Open heart surgery In adults; anticoagulants (like aspirin, warfarin and NOACs) are used to reduce the risk of clots and strokes.

Answer 821

A ventricular septal defect is a congenital cardiac defect where there is a hole in the septum that separates the right and left ventricle.

Answer 822

They are the most common type of congenital cardiac abnormality. They're associated with other congenital conditions like Down's and Turner's Syndromes

Answer 823

**chromosomal disorders** * **Down's syndrome** * **Turners Syndrome** * Edward's syndrome * Patau syndrome * cri-du-chat syndrome **congenital infections** **acquired causes** * post-myocardial infarction

Answer 824

Increased pressure in the left ventricle compared to the right causes blood to typically flows from left the right through the hole. As blood is still flowing around the lungs before entering the rest of the body, therefore they remain acyanotic (not cyanotic) because their blood is properly oxygenated. A left to right shunt leads to right sided overload, right heart failure and increased flow into the pulmonary vessels however which causes pulmonary hypertension. This can eventually cause the pressure in the right side of the heart to become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs (**Eisenmenger Syndrome**).

Answer 825

**Failure to thrive** **features of heart failure** * hepatomegaly * tachypnoea * tachycardia * pallor **classically a pan-systolic murmur** which is louder lower left sternal border in V2-3

Answer 826

**Mitral Regurgitation (MR)** Similarities: pansystolic murmur. Differences: VSD has a loud, harsh pansystolic murmur at the left lower sternal edge. MR has a blowing, pansystolic murmur loudest at the mitral region and that radiates to the axilla. **Tricuspid Regurgitation (TR)** Similarities: pansystolic murmur. Differences: TR pansystolic murmur is loudest in the tricuspid region. **Atrial Septal Defect (ASD)** Similarities: both congenital heart defects of the septum. Small ASDs and VSDs can be completely asymptomatic and do not require intervention. Differences: larger VSDs can lead to symptoms such as faltering growth, tachypnoea, recurrent respiratory infections, fatigue and heart failure. Most ASDs, even if larger, are asymptomatic.

Answer 827

**Transthoracic echocardiogram** Often picked up incidentally during 20 week anomoly scan

Answer 828

ECG - May show left ventricular hypertrophy (LVH), p pulmonale, or biventricular hypetrophy (BVH) Chest XRay - May show cardiomegaly

Answer 829

**Small VSDs** * Often close spontaneously * Simply require monitoring **Moderate to large VSDs** * usually result in a degree of heart failure in the first few months * nutritional support * medication for heart failure e.g. diuretics * **surgical closure of the defect**

Answer 830

Infective Endocarditis Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk.

Answer 831

ECG Chest XRay Cardiac MRI

Answer 832

Eisenmenger syndrome describes a pathological medical condition wherein a congenital left-to-right heart shunt reverses into a right-to-left shunt. This reversal is typically secondary to pulmonary hypertension and is associated with right ventricular hypertrophy.

Answer 833

More than 5g/dl Deoxygenated blood

Answer 834

* **Increased pulmonary pressures**, lead to pathological changes in the pulmonary vasculature and resultant **pulmonary hypertension**. * Pulmonary hypertension subsequently induces the reversal of the original left-to-right shunt, accompanied by right ventricular hypertrophy.

Answer 835

In late teens

Answer 836

**Examination Findings with Pulmonary Hypertension:** * Right ventricular heave: the right ventricle contracts forcefully against increased pressure in the lungs * Loud P2: loud second heart sound due to forceful shutting of the pulmonary valve * Raised JVP * Peripheral oedema **Chronic Hypoxia/Eisenmenger** * Cyanosis * Clubbing * Dyspnoea * Plethoric complexion (a red complexion related to polycythaemia)

Answer 837

Congenital heart diseases Chronic obstructive pulmonary disease (COPD) Pulmonary embolism

Answer 838

Most effective treatment is **preventative**. Involving early identification and prompt treatment of causes leading to left-to-right shunts. If it's not prevented then the only definitive treatment is a **heart-lung transplant**. If this isn't feasible, then palliative care becomes the focus. Medical management of the symptoms can involve: * Oxygen * sildenafil (to manage pulmonary hypertension) * Anticoagulation (to prevent thrombosis) * Prophylactic antibiotics (to prevent infective endocarditis)

Answer 839

Reduces life expectancy by around 20 years Main causes of death are heart failure, infection, thromboembolism and haemorrhage. The mortality can be up to 50% in pregnancy.

Answer 840

Cardiac catheterization It helps identify and quantify the shunt and assess the degree of pulmonary hypertension.

Answer 841

Echocardiography Pulmonary function tests

Answer 842

The term cyanotic heart disease, encompasses a range of congenital heart defects resulting in a right-to-left shunt, which leads to systemic arterial desaturation and subsequent cyanosis within the first few weeks of life.

Answer 843

* **Transposition of the great arteries**: In this defect, the aorta and pulmonary trunk have their insertions swapped around. * **Pulmonary and tricuspid atresias**: This causes the right side of the heart to be a dead-end. * **Tetralogy of Fallot**: Here, pulmonary stenosis in combination with a large ventricular septal defect results in shunting at the ventricular level.

Answer 844

**Most common** is tetralogy of fallot **Cyanosis at birth** is likely transposition of the great arteries

Answer 845

Affected infants typically present within the first few weeks of life: **Visible cyanosis**: This is a consequence of systemic arterial desaturation. Additional symptoms and signs may vary depending on the specific congenital defect

Answer 846

Other conditions that cause cyanosis in infancy: **Methemoglobinemia** Signs include cyanosis and chocolate-brown colored blood. **Polycythemia** Symptoms include ruddy complexion, and in severe cases, symptoms of hyperviscosity like dizziness and headache. **Pulmonary disease** Symptoms can range from tachypnea and respiratory distress to cyanosis in severe cases. **Sepsis** Presents with symptoms such as fever, lethargy, poor feeding, and in severe cases, cyanosis.

Answer 847

Definitive diagnosis: **Echocardiography** However diagnosis is often made antenatally during routine **ultrasound scans**.

Answer 848

**Nitrogen washout test (also known as the hyperoxia test)** * Used to differentiate cardiac from non-cardiac causes. * The infant is given 100% oxygen for ten minutes * After which ABG is done * A **pO2 of less than 15 kPa** indicates cyanotic congenital heart disease

Answer 849

* Supportive care * **prostaglandin E1 e.g. alprostadil** * used to maintain a patent ductus arteriosus **Surgical correction is definitive treatment**

Answer 850

Tetralogy of Fallot is a cyanotic congenital cardiac condition, consisting of four key anatomical abnormalities: * Ventricular septal defect (VSD) * Overriding aorta * Pulmonary valve stenosis (Right ventricular outflow tract obstruction) * Right ventricular hypertrophy

Answer 851

Equal prevalence in males and females May occur alongside chromosomal abnormalities like Down's or DiGeorge syndrome

Answer 852

Rubella infection Increased age of the mother (over 40 years) Alcohol consumption in pregnancy Diabetic mother

Answer 853

**Presents around 1-2 months of age** * **Cyanosis** * **Ejection systolic murmur** heard loudest in the pulmonary area * Clubbing * Poor feeding * Poor weight gain * Tet spells

Answer 854

Episodic hypercyanotic 'tet' spells due to near occlusion of the right ventricular outflow tract **features of tet spells** * Tachypnoea * Severe cyanosis * Loss of consciousness They typically occur when an infant is upset, is in pain or has a fever

Answer 855

* Occurs when **Pulmonary vascular resistance increases** * This occurs when the child generates **increased CO2 by exerting themselves** (waking, physical exertion, crying) * CO2 is a vasodilator reducing systemic vascular resistance * Causing more blood being pumped from the **right ventricle to the aorta** rather than the pulmonary vessels.

Answer 856

The child will become irritable, cyanotic and short of breath. Severe spells can lead to reduced consciousness, seizures and potentially death.

Answer 857

Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chest. (Increases systemic vascular resistance encouraging blood into the pulmonary vessels) **Medical Management** * Supplementary oxygen is essential in hypoxic children as hypoxia can be fatal. * Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels. * IV fluids can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels. * Morphine can decrease respiratory drive, resulting in more effective breathing. * Sodium bicarbonate can buffer any metabolic acidosis that occurs. * Phenylephrine infusion can increase systemic vascular resistance.

Answer 858

Diagnostic: **Echocardiogram** Doppler flow studies can be done during the echo to assess the severity of the abnormality and shunt. Chest XRay - Shows **"boot shaped” heart** due to right ventricular thickening. 25% have a right sided aortic arch

Answer 859

Definitive treatment is **Total Surgical Repair** by open heart surgery In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus (allowing blood to flow from the aorta back to the pulmonary arteries)

Answer 860

It refers to a complex clinical syndrome in which the heart, due to structural or functional anomalies, cannot pump an adequate amount of blood to meet the metabolic needs of the child's body.

Answer 861

It's primarily related to **congenital heart defects** But can also be associated with acquired conditions like myocarditis, cardiomyopathies, arrhythmias, or hypertension. **Hydrops Fetalis** due to Alpha thalassaemia or Fifths disease during pregnancy

Answer 862

**Infants** Difficulty feeding Faltering growth **Young children** Exercise intolerance Abdominal pain and vomiting (especially upon exertion) Fatigue Poor appetite **Adolescents** Exercise intolerance Fatigue **Common symptoms across all age groups** include: potential oedema cyanosis hepatomegaly A heart murmur may be present in children with structural heart defects.

Answer 863

Asthma Pneumonia Gastro-oesophageal reflux disease Anemia

Answer 864

**Blood tests** Full blood count (FBC) Urea and Electrolytes (U&Es) Liver Function Tests (LFTs) C-Reactive Protein (CRP) Thyroid Function Tests (TFTs) Bone profile, Magnesium B-type Natriuretic Peptide (BNP) **Imaging** Chest X-ray and Echocardiogram **ECG**

Answer 865

**Conservative** Fluid restriction and dietitian-guided feeding plans **Medical** Use of diuretics with inotropic support, if required **Surgical** Correction of the anatomical defect causing heart failure (if present) Heart transplant in end-stage cases

Answer 866

Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect in which the origins of the aorta and pulmonary artery are reversed, or transposed. Meaning the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels.

Answer 867

Slightly more common in males than in females Maternal diabetes mellitus associated with increased risk

Answer 868

Normal heart development **involves the spiralling of the aortopulmonary septum.** **In TGA, this spiralling fails to occur**, leading to the aorta arising from the right ventricle and supplying the systemic circulation, while the pulmonary artery arises from the left ventricle and supplies the pulmonary circulation.

Answer 869

No As the it results in two parallel and separate circulations that don't mix (one travelling through the systemic system and right side of the heart and the other traveling through the pulmonary system and left side of the heart).

Answer 870

If there is shunting via the ductus arteriosus or any existing septal defects.

Answer 871

* **Cyanosis at birth or shortly after birth** * Tachypnoea/Shortness of breath * Poor feeding * Low weight gain * **loud single S2** * prominent right ventricular impulse **'egg-on-side' appearance on chest x-ray**

Answer 872

It's often diagnosed during pregnancy with an antenatal ultrasound scan.

Answer 873

**Echocardiography** Used postnatally to confirm the diagnosis and to evaluate the structure and function of the heart.

Answer 874

**Medical** Prostaglandin E1 (Alprostadil) infusions: This maintains the patency of the ductus arteriosus while awaiting surgical intervention. **Surgical** Definitive treatment is open heart surgery to correct the defect. This involves a cardiopulmonary bypass machine performing an **“arterial switch”** procedure within a few days of birth. A Balloon Septostomy can also be done to create a large atrial septal defect, to allow time for further surgical management.

Answer 875

Rheumatic Fever is an auto-immune systemic complication of Lancefield group A beta-haemolytic streptococcal infection, that occurs 2-4 weeks post infection.

Answer 876

The immune system creates antibodies to fight the group A beta-haemolytic streptoccocus infection (scarlet fever). However, these antibodies not only target the bacteria, but also cross-react with the person's endocardium leading to valvular disease. (This is known as molecular mimicry). This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body.

Answer 877

It is very rare in developed countries (as the infection is treated with antibiotics) But is a common cause of valvulopathy in children and young adults in the developing world

Answer 878

Presents 2-4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems: * Fever * Joint pain * Rash * Shortness of breath * Chorea * Nodules

Answer 879

Rheumatic fever causes a **migratory arthritis** affecting the large joints, with hot, swollen, painful joints. It is migratory because different joints become inflamed and improve at different times, giving the appearance that the arthritis is moving from one joint to the next.

Answer 880

**Carditis**, or inflammation throughout the heart, with **pericarditis, myocarditis and endocarditis**. Which can present with: * Tachycardia or bradycardia * Murmurs from valvular heart disease, typically mitral valve disease * Pericardial rub on auscultation * Heart failure

Answer 881

Subcutaneous nodules Erythema marginatum rash Firm painless nodules occur over extensor surfaces of joints, such as the elbows. The erythema marginatum rash involves pink rings of varying sizes affecting the torso and proximal limbs.

Answer 882

Chorea is the key nervous system symptom. Also known as Sydenham chorea and historically as St Vitus’ Dance.

Answer 883

* Throat swab for bacterial culture * ASO antibody titres * Echocardiogram, ECG and chest xray can assess the heart involvement

Answer 884

Jones Criteria (alongside evidence of past streptococcal infection using e.g. ASO antibody titres or throat swab)

Answer 885

A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus: Two major criteria OR One major criteria plus two minor criteria

Answer 886

**J** – Joint arthritis **O** – Organ inflammation, such as carditis **N** – Nodules **E** – Erythema marginatum rash **S** – Sydenham chorea

Answer 887

**F** -Fever **E** - ECG Changes (prolonged PR interval) without carditis **A** - Arthralgia without arthritis **R** - Raised inflammatory markers (CRP and ESR)

Answer 888

**Systemic lupus erythematosus (SLE)** **Kawasaki Disease** Both can present with joint pain, fever, strawberry tongue and can lead to cardiac complications. But; cardiac manifestations of Kawasaki Disease are classically coronary artery aneurysms opposed to valvular pathologies. **Reactive Arthritis** Both can present with joint pain and constitutional symptoms including fevers. But; reactive arthritis does not lead to cardiac manifestations.

Answer 889

Mitral Regurgitation

Answer 890

First line is a **STAT dose of IV Benzylpenicillin, with a ten day course of Phenoxymethylpenicillin** to follow (to eradicate the strep infection). Other management involves: * **NSAIDs** (e.g. ibuprofen) for joint pain * Aspirin and steroids are used to treat carditis * Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. (These are continued into adulthood.)

Answer 891

* Mitral stenosis (Most common) * Mitral regurgitation * Mixed mitral stenosis and regurgitation * Aortic regurgitation * Aortic stenosis (rare in isolation) * Tricuspid regurgitation or stenosis

Answer 892

It is a normal foetal artery that connects the aorta and pulmonary artery.

Answer 893

The ductus arteriosus normally stops functioning within 1-3 days of birth, and closes completely within the first 2-3 weeks of life. When it fails to close, this is called a “patent ductus arteriosus” (PDA).

Answer 894

**Prematurity** Maternal rubella infection during pregnancy

Answer 895

Tetralogy of Fallot Tricuspid Atresia Total Anomalous Pulmonary Venous Return (TAPVR)

Answer 896

Pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery (creating a left to right shunt). This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right sided heart strain. Pulmonary hypertension and right sided heart strain lead to right ventricular hypertrophy. The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.

Answer 897

**Clinical Signs:** * left subclavicular thrill * **continuous 'machinery' murmur** * large volume, bounding, collapsing pulse * wide pulse pressure * heaving apex beat **Presenting Features:** * Shortness of breath * Difficulty feeding * Poor weight gain * Lower respiratory tract infections

Answer 898

**Congenital heart defects** **Coarctation of the aorta** characterised by upper body hypertension, lower body hypotension, and weak or absent femoral pulses. **Pulmonary hypertension** presenting with exertional dyspnea, chest pain, and signs of right heart failure

Answer 899

Echocardiogram (Doppler flow studies during the echo can assess the size and characteristics of the left to right shunt)

Answer 900

Management only required if patient has symptoms **Medical** * NSAIDs **Ibuprofen** (in 1/3 of patients) as they inhibit prostaglandin synthesis (which typically helps maintain patency). * Previously **Indomethacin** was used but NSAIDs have a better saftey profile. * Paracetamol can be used as an alternative to NSAIDs. **Surgical** * After a year of monitoring, if the PDA hasn't closed, then trans-catheter or surgical closure can be performed.

Answer 901

They're abnormal heart rhythms that result from an interruption to the normal electrical signals that coordinate the contraction of the heart muscle. There are several types

Answer 902

Ventricular tachycardia Ventricular fibrillation

Answer 903

Pulseless electrical activity (all electrical activity except VF/VT, including sinus rhythm without a pulse) Asystole (no significant electrical activity)

Answer 904

Narrow complex tachycardia refers to a fast heart rate with a QRS complex duration of less than 0.12 seconds.

Answer 905

Sinus tachycardia Supraventricular tachycardia Atrial fibrillation Atrial flutter

Answer 906

Synchronised DC cardioversion under sedation or general anaesthesia. IV amiodarone is added if initial DC shocks are unsuccessful.

Answer 907

Broad complex tachycardia refers to a fast heart rate with a QRS complex duration of more than 0.12 seconds.

Answer 908

* Ventricular tachycardia (or unclear cause) * Polymorphic ventricular tachycardia, such as torsades de pointes * Atrial fibrillation with bundle branch block * Supraventricular tachycardia with bundle branch block

Answer 909

IV Amiadorone

Answer 910

IV Magnesium

Answer 911

Synchronised DC cardioversion under sedation or general anaesthesia. IV amiodarone is added if initial DC shocks are unsuccessful. (Same as narrow complex )

Answer 912

Atrial flutter is a common supraventricular tachycardia (SVT) where there is succession of rapid atrial depolarisation It is characterised by an abnormal cardiac rhythm with an atrial rate of 300 beats/min and a ventricular rate that can be fixed or variable.

Answer 913

Usually 2:1 conduction (2 atrial contractions for every ventricle contraction) Thus the HR would be 150bpm Although the conduction rate can be 3:1 or even 4:1

Answer 914

As the electrical signal can't enter the ventricles on every lap due to the long refractory period of the atrioventricular node

Answer 915

**Sawtooth appearance** with repeated P waves occurring at around 300 per minute. In a regular rhythm). With a narrow complex tachycardia (narrow QRS Complex).

Answer 916

Normally the electrical signal passes through the atria once, stimulating a contraction, then disappears through the atrioventricular node into the ventricles. Atrial flutter is caused by a re-entrant rhythm in the right atrium. The electrical signal re-circulates in a self-perpetuating loop due to an extra electrical pathway in the atria. The signal goes round and round the atrium without interruption resulting in a very high atrial HR.

Answer 917

Its likely to occur with pulmonary disease such as: * COPD * Obstructive sleep apnoea * Pulmonary emboli * Pulmonary hypertension Other causes: Ischaemic heart disease Sepsis Alcohol Cardiomyopathy Thyrotoxicosis

Answer 918

Asymptomatic Palpitations Lightheadedness Syncope Chest pain

Answer 919

1st line = direct current synchronised cardioversion +/- amiodarone

Answer 920

Treat reversible causes e.g. fluid rehydration (in septic/dehydrated patients) **Rate and Rhythm control** * 1st line = **beta-blocker** (bisoprolol) OR calcium channel blocker (diltiazem, verapamil) * 2nd line = if rate control fails to control flutter than consider cardioversion (either electrical or pharmacological with drugs like **amiodarone**, sotalol, or digoxin) * 3rd line = recurrent or refractory flutter managed with **Radiofrequency ablation of arrhythmogenic foci at cavotricuspid isthmus**. **Anticoagulation** According to CHA2DS2VASc score due to increased risk of ischaemic stroke

Answer 921

* **CardiacEmboli** - Ischaemic stroke if not appropriately anticoagulated. * Tachycardia-induced cardiomyopathy leading to heart failure.

Answer 922

More than 440 milliseconds in men More than 460 milliseconds in women

Answer 923

A prolonged QT interval represents **prolonged repolarisation** of the heart muscle cells (myocytes) after a contraction. Waiting a long time for repolarisation **can result in spontaneous depolarisation** in some muscle cells. These afterdepolarisations spread throughout the ventricles, **causing a contraction before proper repolarisation.** When this leads to **recurrent contractions without normal repolarisation, it is called torsades de pointes.**

Answer 924

Depolarisation is the electrical process that leads to heart contraction.

Answer 925

Repolarisation is a recovery period before the muscle cells are ready to depolarise again.

Answer 926

Its type of polymorphic ventricular tachycardia. It translates from French as “twisting of the spikes”, describing the ECG characteristics.

Answer 927

It looks like standard ventricular tachycardia but with the appearance that the QRS complex is twisting around the baseline. The height of the QRS complexes gets progressively smaller, then larger, then smaller, and so on.

Answer 928

They will **terminate spontaneously and revert to sinus rhythm** or progress to ventricular fibrillation. Ventricular fibrillation can lead to cardiac arrest.

Answer 929

**Congenital:** * Jervell-Lange-Nieslen Syndrome (deafness) * Romano-Ward Syndrome (no-deafness) **Drugs: (ASTHMATiC)** * **A:** amiodarone * **S:** sotalol, SSRIs * **T:** terfenadine * **H:** haloperidol * **M:** methadone, macrolides (erythromycin) * **A:** antiarrythmics class Ia * **T:** tricyclic antidepressants * **C:** chloroquine **Other:** * Electrolyte imbalance: Hypocalcaemia, hypokalaemia, hypomagnesaeimia * Acute MI * Myocarditis * Hypothermia * SAH

Answer 930

* Stopping and avoiding medications that prolong the QT interval * Correcting electrolyte disturbances * Beta blockers (not sotalol) * Pacemakers or implantable cardioverter defibrillators

Answer 931

* Correcting the underlying cause (e.g., electrolyte disturbances or medications) * **Magnesium infusion** (even if they have normal serum magnesium) * Defibrillation if ventricular tachycardia occurs

Answer 932

They are premature ventricular beats caused by random electrical discharges outside the atria. Patients often present complaining of random extra or missed beats. They are relatively common at all ages and in healthy patients. (but are more common in those with pre-existing heart conditions).

Answer 933

They appear as isolated, random, abnormal, broad QRS complexes on an otherwise normal ECG.

Answer 934

Bigeminy refers to when every other beat is a ventricular ectopic. The ECG shows a normal beat, followed immediately by an ectopic beat, then a normal beat, then an ectopic, and so on.

Answer 935

**PR interval greater than 0.2 seconds** It occurs where there is delayed conduction through the atrioventricular node. Despite this, every atrial impulse still leads to a ventricular contraction, meaning every P wave is followed by a QRS complex.

Answer 936

Second-degree heart block is where some atrial impulses don't make it through the atrioventricular node to the ventricles. Thus, there are instances where P waves are not followed by QRS complexes. There are two types.

Answer 937

Mobitz type 1 (Wenckebach phenomenon) Mobitz type 2

Answer 938

It is where the conduction through the atrioventricular node takes progressively longer until it finally fails, after which it resets, and the cycle restarts. On an ECG, there is an increasing PR interval until a P wave is not followed by a QRS complex. The PR interval then returns to normal, and the cycle repeats itself.

Answer 939

This is where there is intermittent failure of conduction through the atrioventricular node, with the occasional absence of QRS complexes following P waves. There is usually a set ratio of P waves to QRS complexes, for example, three P waves for each QRS complex (3:1 block). **The PR interval remains Constant (either normal/prolonged)** There is a risk of asystole

Answer 940

Also called complete heart block. There is no observable relationship between the P waves and QRS complexes. There is a significant risk of asystole

Answer 941

Asystole refers to the absence of electrical activity in the heart (resulting in cardiac arrest).

Answer 942

* Mobitz type 2 * Third-degree heart block (complete heart block) * Previous asystole * Ventricular pauses longer than 3 seconds

Answer 943

**Commence ALS/PALS:** * **Intravenous Adrenaline 1mg every 3-5mins** (first line) * Inotropes (e.g., isoprenaline or adrenaline) * Temporary cardiac pacing * Permanent implantable pacemaker, when available

Answer 944

* Transcutaneous pacing, using pads on the patient’s chest * Transvenous pacing, using a catheter, fed through the venous system to stimulate the heart directly

Answer 945

Atropine is an antimuscarinic medication and works by inhibiting the parasympathetic nervous system.

Answer 946

pupil dilation dry mouth urinary retention constipation.

Answer 947

Atrial fibrillation (AF) is characterised by irregular, uncoordinated atrial contraction usually at a rate of 300-600 beats per minute. Delay at the AVN means that only some of the atrial impulses are conducted to the ventricles, resulting in an irregular ventricular response.

Answer 948

AF is the commonest sustained cardiac arrhythmia. (Atrial Flutter is second most common) The prevalence of AF roughly doubles with each advancing decade of age

Answer 949

* Acute: lasts <48 hours * Paroxysmal: lasts <7 days and is intermittent * Persistent: lasts >7 days but is amenable to cardioversion * Permanent: lasts >7 days and is not amenable to cardioversion It can also be classed as **fast** or **slow**: Fast AF : >100bpm Slow AF: <60bpm

Answer 950

**Cardiac** * Ischaemic heart disease: most common cause in the UK. * Hypertension * Rheumatic heart disease (typically affecting the mitral valve): most common cause in less developed countries. * Peri-/myocarditis **Non-cardiac** * Dehydration * Endocrine causes e.g. hyperthyroidism * Infective causes e.g. sepsis * Pulmonary causes e.g. pneumonia or pulmonary embolism * Environmental toxins e.g. alcohol abuse * Electrolyte disturbances e.g. hypokalaemia, hypomagnesaemia

Answer 951

Palpitations Chest pain Shortness of breath Lightheadedness Syncope

Answer 952

* Irregularly irregular pulse rate with a variable volume pulse. * A single waveform on the jugular venous pressure (due to loss of the a wave - this normally represents atrial contraction). * An apical to radial pulse deficit (as not all atrial impulses are mechanically conducted to the ventricles). * On auscultation there may be a variable intensity first heart sound.

Answer 953

**Atrial Flutter** Distinguishing between the two requires an ECG. **Supraventricular Tachycardia** Distinguishing between different types of SVT requires an ECG. **Ventricular Tachycardia** ECG patterns differ tremendously.

Answer 954

**12-lead ECG** Shows absence of p waves with an irregularly irregular rhythmn.

Answer 955

* Routine bloods: to look for reversible causes (e.g. infection (raised WCC and CRP), Hyperthyroidism (raised T3/T4)) * Echocardiography - To see if there is a cardoiac cause for the AF (e.g. left atrial dilatation secondary to mitral valve disease).

Answer 956

1st line = synchronised DC cardioversion +/- amiodarone

Answer 957

**Rate or rhythmn control** Either: * Rhythm control with DC cardioversion (+ sedation) * or pharmacological anti-arrhythmics (fleicanide if no structural heart disease, amiodarone if history of structural heart disease). If DC cardioversion is used then heparin will be required to anticoagulate the patient before DC cardioversion. If onset of AF is <48 hours then no further anticoag is required

Answer 958

**Rate control only** * Rate control with **beta-blockers or rate limiting CCBs (diltiAzeem, verapamil)** * Digoxin may be used does no/very little exercise * Need to anticoagulate for 3/52 prior to attempting cardioversion due to the risk of throwing off a clot. You can also perform a TOE to exclude a mural thrombus.

Answer 959

Management focusses on symptomatic relief and control of stroke risk * 1st Line = **Rate Control** (reduces patient's HR to control symptoms) * **Rhythem Control** is only appropriate in certain patients * **Anticoagulation** should be given to males who score 1 or more, and females who score 2 or more in CHADS2VASc

Answer 960

* **1st line**: beta-blocker (bisoprolol) or rate-limiting calcium channel blocker (diltiazem). * **2nd line**: dual therapy of beta blockers and rate limiting CCBs * **Digoxin monotherapy** may be considered in those with non-paroxysmal AF who are sedentary.

Answer 961

**RANCH** * Reversible cause of AF *Atrial Flutter Ablation * New onset (<48hrs) * Clinical Judgement * HF secondary to AF

Answer 962

* Electrical cardioversion * Pharmacological cardioversion: amiodarone, fleicanide or sotalol. * Catheter Ablation of the arrhythmogenic focus between the pulmonary veins and left atrium is a final option for rhythm control. But with this method, there is a high risk of reccurence.

Answer 963

* **1st Line**: Direct oral anticoagulants (DOACs) e.g. edoxaban, apixaban, rivaroxaban & dabigatran. These don't require monitoring. * Warfarin - Requires cover with LMWH for 5 days when initiating treatment; and regular INR monitoring. This is the only option for those with Valvular AF * Low Molecular Weight Heparin (LMWH) - e.g. enoxaparin. This is a rare option for those who can't tolerate oral treatment. Requires daily injections.

Answer 964

**Heart failure** **Systemic emboli**: * Ischaemic Stroke * Mesenteric ischaemia * Acute limb ischaemia **Bleeding**: * GI * Intracranial

Answer 965

Infective endocarditis (IE) is the infection of the inner surface of the heart (endocardium), usually the valves.

Answer 966

**The most important RF is prev IE** Infective endocarditis is most commonly seen in patients with a **history of congenital or acquired cardiac disease**: * Ventricular septal defects * Patent ductus arteriosus * Aortic valve abnormalities including bicuspid aortic valve * Tetralogy of fallot

Answer 967

* **Previous history of infective endocarditis** * Male sex * IVDU: predisposition to Staph. aureus infection and right-sided valve disease e.g. tricuspid endocarditis. * Poor dentition and dental infections * Prosthetic valves * Intravascular devices: central catheters and shunts. * Haemodialysis * HIV infection

Answer 968

More common in Males and the elderly

Answer 969

**Acute vs Chronic** * Acute IE: patient has signs or symptoms for days up to 6 weeks. * Subacute IE: patients has signs or symptoms for 6 weeks up to 3 months. * Chronic IE: patients has signs or symptoms that persist for longer than 3 months. **Valve Type** * Native-valve endocarditis: patient without prosthetic valve implant. * Prosthetic-valve endocarditis

Answer 970

Most common descending: * **Staph. aureus** (most common cause) * **Strep. viridans** used to be the most common. Implicated in patients with poor dental hygiene. * Enterococci * Coagulase negative staphylococci e.g. staph. epidermidis: common inprosthetic valve endocarditis. * Strep. bovis: important link with **colorectal cancer**. Need to consider colonoscopy and biopsy in these patients. Other: * Fungal * HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella): culture negative causes of IE. * Non-infective: marantic endocarditis (malignancy - pancreatic cancer), Libman-Sacks endocarditis (SLE).

Answer 971

In order for IE to occur you must have the triad of **endothelial damage, platelet adhesion and microbial adherence** When part of the endocardium is damaged, the heart valve forms a local blood clot known as non-bacterial thrombotic endocarditis (NBTE). The platelets and fibrin deposits that form as part of the clotting process allows bacteria to stick to the endocardium leading to the formation of vegetations. The valves do not have a dedicated blood supply and so the body is unable to launch an appropriate immune response to the vegetations.

Answer 972

**Symptoms**: * Fever: most common symptom. * Night sweats * Anaemia/Anorexia * Weight loss * Myalgia **Signs** * Murmur: fever + new murmur is infective endocarditis until proven otherwise * Janeway lesions * Splinter haemorrhages * Osler's nodes * Roth spots * Glomerulonephritis **FROM JANE** **F**ever **R**oth Spots **O**sler Nodes **M**urmers **J**aneway Lesions **A**naemia/Anorexia **N**ailbed haemorrhages (splinter) **E**mboli

Answer 973

**Janeway Lesions**: Painless haemorrhagic cutaneous lesions in the palms and soles. **Osler's Nodes**: Painful pulp infarcts on end of fingers

Answer 974

Boat-shaped retinal haemorrhages with pale centres seen on fundoscopy

Answer 975

* Non-infectious endocarditis/Nonbacterial thrombotic endocarditis (NBTE) * Rheumatic Fever

Answer 976

Modified Duke Criteria

Answer 977

For a definitive diagnosis: two major criteria, or one major and three minor criteria or all five minor criteria must be present. **Major Criteria** * Blood culture positive for IE * 2x separate positive blood cultures showing typical microorganisms * Persistent bacteraemia with 2x blood cultures >12 hours apart * >3 positive blood cultures with less specific microorganisms * Single positive blood culture for Coxiella burnetti * Evidence of endocardial involvement TTE 1st line * Evidence with TOE 2nd line * Showing vegetation, abscess, partial dehiscence of prosthetic valve or new valvular regurgitation. **Minor Criteria** * Temperature (Fever): >38.0 degrees celsius. * Immunological phenomena: Roth spots, splinter haemorrhages or Olser's nodes. * Microbiological evidence that does not meet major criteria * (Embolic) Vascular phenomena: evidence of septic embolis, Janeway lesions. * Risk/Predisposing features: known valvular disease, IVDU, prosthetic valves etc.

Answer 978

* ECG: increasing prolongation of PR interval suggests development and worsening of aortic root abscess. * Urine dip: look for haematuria which may suggest development of glomerulonephritis. * Routine bloods: significant elevation of inflammatory markers (in Acute IE) or Normocytic anaemia (in Subacute/chronic IE) * CT CAP: used to look for evidence of septic emboli

Answer 979

Mainstay of treatment = Prolonged course of **IV antibiotics (~ 6/52)** **Blind Therapy** * Native valve: amoxicillin (+/- gentamicin) * Pen-allergy/MRSA: vancomycin (+/- gentamicin) * Prosthetic valve: vancomycin + rifampicin + gentamicin **Native Valve S. aureus IE** * 1st line: flucloxacillin * 2nd line: vancomycin + rifampicin **Prosthetic Valve S. aureus IE** * 1st line: flucloxacillin + rifampicin + gentamicin **Strep viridans IE** * 1st line: benzylpenicillin * 2nd line: vancomycin + gentamicin **HACEK IE** * 1st line: ceftriaxone Surgery can also be indicated in certain situations

Answer 980

* severe valvular incompetence * aortic abscess (often indicated by a lengthening PR interval) * infections resistant to antibiotics/fungal infections * cardiac failure refractory to standard medical treatment * recurrent emboli after antibiotic therapy

Answer 981

* Acute valvular insufficiency causing heart failure * Neurologic complications e.g. stroke, abscess, haemorrhage (mycotic aneurysm) * Embolic complications causing infarction of kidneys, spleen or lung * Infection e.g. osteomyelitis, septic arthritis

Answer 982

It's a serious mental health disorder characterized by self-imposed starvation and a relentless pursuit of extreme thinness. Individuals with anorexia nervosa have a distorted body image, viewing themselves as overweight even when they are dangerously underweight.

Answer 983

**Restrictive Subtype**: Characterized by minimal food intake and excessive exercise. **Bulimic Subtype**: Involves episodic binge eating followed by behaviors like laxative use or induced vomiting.

Answer 984

**Now we use the DSM-5** * Restriction of Energy Intake * Intense Fear of Gaining Weight despite being underweight * Body Image Disturbance **ICD-11** * Significantly Low Body Weight * Fear of Gaining Weight * Distorted Body Image * Restrictive Eating

Answer 985

* Most common in adolescents and young adults (highest incidence = 13-17) * More common in females * More common in industrialized countries * Often occurs alongside other psychiatric disorders e.g. depression and anxiety

Answer 986

* Preoccupation with food and calories * Starvation via restricting intake, purging (through induced emesis, diuretic or laxative abuse) or excessive exercise * Poor insight * Overvalued, intrusive obsession with weight, shape and fear of becoming fat * Weight/calorie goals in mind regardless of their impact on physical health

Answer 987

* BMI <17.5 kg/m2 (contrast with bulimia nervosa, where there may be many similar features, but the BMI is normal‚ a key distinguishing feature) * Hypotension * Bradycardia * Enlarged salivary glands * Lanugo hair (fine hair covering the skin) * Amenorrhoea (hypogonadotropic hypogonadism) Additional features in the 'bulimic' subtype may include hypokalaemic hypochloraemic metabolic alkalosis, pitted teeth, parotid swelling, and scarring of the dorsum of the hand **(Russell’s sign)**.

Answer 988

* Deranged electrolytes - typically low calcium, magnesium, phosphate and potassium * Low sex hormone levels (FSH, LH, oestrogen and testosterone) * Leukopenia * Raised growth hormone and cortisol levels (stress hormones) * Hypercholesterolaemia * Metabolic alkalosis, either due to vomiting or use of diuretics

Answer 989

1st Line (for u18s) = Anorexia Nervosa focussed family therapy 2nd Line = Cognitive -Behavioural Therapy for Eating Disorders (CBT-ED) In adults, other options include: * MANTRA (Maudsley Model of Anorexia Nervosa Treatment for Adults) * Specialist Supportive Clinical Management (SSCM) * Selective serotonin release inhibitors (SSRIs)

Answer 990

* Refeeding syndrome * Cardiac arrhythmias (Bradycardia and prolonged QTc are often seen) * Osteoporosis (Long Term)

Answer 991

It is potentially fatal disorder that occurs when nutritional intake is resumed too rapidly after a period of low caloric intake

Answer 992

oedema confusion tachycardia

Answer 993

Rapidly increasing insulin levels lead to shifts of potassium, magnesium and phosphate from extracellular to intracellular spaces‚ these therefore need to be replenished.

Answer 994

* The provision of high-dose vitamins (eg. Pabrinex) before feeding commences * Monitoring with daily bloods and replenishing electrolytes early * Building caloric intake gradually with the help of a dietitian (no more than 50% of calorie requirement in 'patients who have eaten little or nothing for more than 5 days')

Answer 995

It is characterized by recurrent binge-eating episodes with a loss of control, followed by inappropriate compensatory behaviors to prevent weight gain. Compensatory behaviors include self-induced vomiting, laxative or diuretic misuse, fasting, or excessive exercise. Behaviours/episodes occur once a week or more for one month.

Answer 996

It primarily affects late adolescents and young adults More common in Female

Answer 997

**Psychological Symptoms**: * Binge Eating * Purging: Induced vomiting, laxative or diuretic misuse, and excessive exercise. * Body Image Distortion **Physical Symptoms/Signs** * Dental Erosion (from recurrent self-induced vomiting). * Parotid Gland Swelling (from recurrent self-induced vomiting) * **Russell's Sign** = Scarring on the back of the hand or knuckles from repeated self-induced vomiting. * Amenorrhea: Present in 50% despite normal weight. * Excessive Vomiting Complications: Boerhaave syndrome or Mallory-Weiss tear. * Alkalosis, due to vomiting hydrochloric acid from the stomach * Hypokalaemia

Answer 998

* **Anorexia Nervosa** * **Kleine-Levin Syndrome** Characterized by hypersomnia, hypersexuality, and hyperphagia. * **Kluver-Bucy Syndrome** Involves compulsive eating, associated with bilateral medial temporal lobe lesions.

Answer 999

No specific laboratory tests; diagnosis relies on: * Detailed medical history for binge eating and compensatory behaviors. * Comprehensive physical examination for physical signs. * Psychological assessments for associated conditions and body image distortion.

Answer 1000

**In Children**: * Bulimia Nervosa Focused Family Therapy (First-line for children) * High-Dose Fluoxetine: Considered in some cases. **In Adults**: * Bulimia Nervosa Focused Guided Self-Help targeting eating behaviors, thought patterns, body image, and self-esteem (First-line treatment in adults)

Answer 1001

Cryptorchidism

Answer 1002

Cryptorchidism, or undescended testes, is a congenital condition in which one or both of the testes fail to descend into the scrotum before birth. Usually before birth, the testes (which develop in the abdomen and then gradually migrate down through the inguinal canal) will have reached the scrotum prior to birth.

Answer 1003

* Family history of undescended testes * Low birth weight * Small for gestational age * Prematurity * Maternal smoking during pregnancy

Answer 1004

The absence of one or both testes in the scrotum. This can often be identified during a physical examination.

Answer 1005

**Retractile testes** The testes may be in the scrotum at times but can retract into the inguinal canal when the cremaster muscle contracts. **Inguinal hernias** These present with a palpable mass in the inguinal region which can increase in size with crying or straining. **Ectopic testes** This condition is characterized by testes that have deviated from the normal path of descent and are located in abnormal positions, such as the perineum or femoral region.

Answer 1006

physical examination ultrasound or MRI (especially in cases of unpalpable testes)

Answer 1007

**Unilateral undescended testis** * Watch and wait - most descend in first 3-6 months * Re-assess at 6-8 week NIPE - then at 4-5 months (if still undescended) * If still undescended at 4-5 months then referral to paediatric surgery/urololgy to be seen by **6 months** * **Orchidopexy:** Surgical practices vary although the majority of procedures are performed at **around 1 year** of age **Bilateral undescended testes** * Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Answer 1008

Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle. It is a urological emergency, and a delay in treatment increases the risk of ischaemia and necrosis of the testicle.

Answer 1009

Most common in boys aged 12-18 but it can occur at any age

Answer 1010

The primary cause of testicular torsion is the lack of adequate tissue attachment around the testicle, allowing it to freely rotate within the scrotum. **Bell clapper deformity**

Answer 1011

* **Bell-Clapper deformity**: An anomaly where the testis is inadequately fixed, allowing it to rotate freely. * **Undescended testicle**: Testicles that have not descended fully into the scrotum may be more prone to torsion. * Trauma: Physical injury may precipitate torsion, although it often occurs spontaneously. * Prior intermittent torsion: Those who have previously experienced episodes of intermittent torsion may be at higher risk.

Answer 1012

Acute rapid onset unilateral testicular pain, that may be associated with abdominal pain and vomiting. Examination findings: * Firm swollen testicle * Elevated (retracted) testicle * Unilateral loss of cremasteric reflex * Abnormal testicular lie (often horizontal) * Rotation, so that epididymis is not in normal posterior position * Persistent pain despite elevation of the testicle (negative Prehn's sign)

Answer 1013

**Epididymitis** This is where there is pain relief upon elevation of the scrotum (but this isn't the case in torsion)

Answer 1014

* **Epididymitis** Characterized by a slower onset of pain, presence of urethral discharge, urinary symptoms, and relief with testicular elevation (positive Prehn's sign). * **Orchitis** This condition usually presents with systemic symptoms like fever, along with testicular pain and swelling. * **Trauma** * **Inguinal Hernia** Presents with groin pain, a bulge in the inguinal area, and potential bowel symptoms but without the acute onset of testicular pain.

Answer 1015

**Diagnosis is typically clinical and patients are sent to surgery without scanning due to time critical nature** **Doppler ultrasound** can confirm the diagnosis by demonstrating reduced or absent blood flow to the affected testicle. A scrotal ultrasound can aslo show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.

Answer 1016

* Nil by mouth, in preparation for surgery * Analgesia as required * Urgent senior urology assessment * Surgical exploration of the scrotum then either: **Orchiopexy** (correcting the position of the testicles and fixing them in place) ... OR **Orchidectomy** (removing the testicle) if the surgery is delayed or there is necrosis

Answer 1017

* Testicular necrosis: Lack of blood flow can cause tissue death, requiring surgical removal. * Impaired fertility (or complete infertility)

Answer 1018

**Girls** (Boobs, Pubes, Grow, Flow) * Breast development * Pubic hair development * Growth Spurt * Menarche **Boys** (Grapes, Drapes, Grow, Blow) * Testicular Enlargement * Pubic Hair Development * Growth Spurt * Ejaculation

Answer 1019

It's defined as the onset of secondary sexual characteristics before the age of: * 8 in females * 9 in males

Answer 1020

More common in females

Answer 1021

* Gonadotrophin-dependent (Central) precocious puberty (GDPP) * Gonadotrophin-independent (Peripheral/pseudo) precocious puberty (GIPP)

Answer 1022

**Central/GnRH Dependent** * Premature activation of the HPG axis * Early release of LH/FSH or * Damage causing impaired negative feedback **Peripheral/ GnRH Independent** * Excess sex hormone production (often from tumours) * Low LH/FSH

Answer 1023

**Increased LH/FSH early** * Idiopathic (>90% of cases) * Brain tumours - releasing LH/FSH early **Damage causing impaired negative feedback** * Cranial radiotherapy * Structural brain damage, such as: Hydrocephalus Post-infection (e.g., meningitis) Traumatic head injury

Answer 1024

* Gonadal tumours * Adrenal or liver tumours (which may cause virilisation) * Congenital adrenal hyperplasia

Answer 1025

* Rapid growth * Early development of secondary sexual characteristics (such as breast development in girls, enlargement of the testicles or penis in boys, and pubic or underarm hair in both) * Menstruation in girls * Acne * Adult body odour * Emotional and behavioural changes

Answer 1026

* **Thyroid disorders** Symptoms may include rapid growth, weight loss, sweating, behavioural changes, and irregular menstruation in girls. * **Growth hormone excess (Gigantism/Acromegaly)** Signs may include rapid growth, increased size of hands and feet, coarsened facial features, joint pain, and excessive sweating. * **McCune-Albright Syndrome** Signs and symptoms can include early puberty, fibrous dysplasia, and café-au-lait spots on the skin. * **Adrenal Tumours** May cause signs of virilisation such as deepening of voice, excessive body hair, and masculine body changes.

Answer 1027

**Tanner Staging** * Measuring growth parameters * Development of Secondary Sexual Characteristics **Blood tests:** * Early morning LH, FSH, Oestrogen and Testosterone * Growth Hormone * **GnRH stimulation** - will determine if it is true (Central) or peripheral (Pseudo). **Bone Age Assessment:** * X ray of the hand and wrist for bone maturity **Brain MRI for any central causes**

Answer 1028

* Identification and management of underlying cause * The use of GnRH agonists to suspend the progression of puberty. However, the approach may vary depending on the underlying cause

Answer 1029

* Accelerated skeletal development and premature fusion of bone growth plates, which can result in a reduced final adult height. * Early onset of physical changes can significantly impact the affected child's psychological wellbeing.

Answer 1030

Hypothyroidism is an endocrine disorder characterized by an insufficient production of thyroid hormones, which are crucial for metabolism and energy utilization in the body. Hypothyroidism in children can either be: * Congenital * Acquired

Answer 1031

This is where the child is born with an underactive thyroid gland. It can be the result of an underdeveloped thyroid gland (**dysgenesis**) or a fully developed gland that does not produce enough hormone (**dyshormonogenesis**).

Answer 1032

Autoimmune thyroiditis (also known as Hashimoto’s thyroiditis) This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland

Answer 1033

* Antithyroid peroxidase (anti-TPO) antibodies * Antithyroglobulin antibodies

Answer 1034

Other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

Answer 1035

Picked up on new born blood spot test at 5 days old **Clinical Features** * prolonged neonatal jaundice * delayed mental & physical milestones * short stature * Constipation * puffy face, macroglossia * Reduced activity * hypotonia **If not treated in first 4 weeks then it may lead to irreversible cognitive impairment**

Answer 1036

* Fatigue and low energy * Poor growth * Weight gain * Poor school performance * Constipation * Dry skin and hair loss * Queen Anne's sign

Answer 1037

loss of outer 1/3 of eyebrows (indicative of hypothyroidism)

Answer 1038

* **Iron deficiency anaemia** * **Chronic fatigue syndrome** persistent fatigue, unrefreshing sleep, cognitive impairment. * **Depression**

Answer 1039

* Full thyroid function blood tests (TSH, T3 and T4) = First line * Thyroid ultrasound * Thyroid antibodies (Anti-TPO, Anti-thyroglobulin, Anti-TSH receptor)

Answer 1040

First Line = Hormone replacement with **Levothyroxine** Review the patient and re-check TSH levels every 3 months after initiation levothyroxine therapy and adjust the dose according to symptoms and TFT results.

Answer 1041

More common in females

Answer 1042

Delayed puberty is defined as the absence of any signs of pubertal development by the age of: * 14 in boys * 13 in girls **Tanner stage** 4ml on the ordchidometer suggests start of puberty

Answer 1043

A Constitutional delay of growth and puberty, often seen in 'late bloomers'.

Answer 1044

Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone. A lack of these hormones causes a delay in puberty.

Answer 1045

* **Hypogonadotrophic hypogonadism**: a deficiency of LH and FSH * **Hypergonadotrophic hypogonadism**: a lack of response to LH and FSH by the gonads (the testes and ovaries)

Answer 1046

It is the result of abnormal functioning of the hypothalamus or pituitary gland; which can be due to: * Previous damage to the hypothalamus or pituitary e.g. by radiotherapy or surgery for previous cancer * Growth hormone deficiency * Hypothyroidism * Hyperprolactinaemia (high prolactin) * Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease) * Excessive exercise or dieting can delay the onset of menstruation in girls * Constitutional delay in growth and development * Kallman syndrome

Answer 1047

Hypogonadotrophic hypogonadism is where there's a deficiency of LH and FSH (gonadotrophs), leading to a deficiency of the sex hormones testosterone and oestrogen. This occurs as there's no gonadotrophs stimulating the gonads, so they don't respond by producing testosterone or oestrogen.

Answer 1048

This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads. Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).

Answer 1049

It is the result of abnormal functioning of the gonads. This could be due to: * Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) * Congenital absence of the testes or ovaries * Kleinfelter’s Syndrome (XXY) * Turner’s Syndrome (XO)

Answer 1050

Lack of physical changes that usually occur during puberty at the expected age. These can include: * lack of breast development in girls * lack of testicular enlargement in boys * absence of menstruation in girls * absence of voice changes or facial hair growth in boys * slow growth in height in both sexes.

Answer 1051

**Delayed puberty with short stature** * Turner's syndrome * Prader-Willi syndrome * Noonan's syndrome **Delayed puberty with normal stature** * polycystic ovarian syndrome * androgen insensitivity * Kallman's syndrome * Klinefelter's syndrome

Answer 1052

**Initial Investigations** (to assess for underlying medical conditions): * Full blood count and ferritin for anaemia * U&E for chronic kidney disease * Anti-TTG or anti-EMA antibodies for coeliac disease **Hormonal blood tests**: * Early morning serum FSH and LH (the gonadotropins). (low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism). * Thyroid function tests * Growth hormone testing. (Insulin-like growth factor often used as screening for FH deficiency) * Serum prolactin **Genetic Testing** * Microarray test to look for Kleinfelter’s syndrome (XXY) or Turner’s syndrome (XO) **Imaging** * Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay * Pelvic ultrasound in girls to assess the ovaries and other pelvic organs * MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Answer 1053

Depends on the underlying pathology: **Constitutional delay** Reassurance, and regular monitoring of growth and pubertal development may be all that is needed. **Hypogonadotrophic hypogonadism** Hormone replacement therapy, surgery for tumours, or management of the underlying systemic disease. **Hypergonadotrophic hypogonadism** Hormone replacement therapy and supportive care, with specific treatments for conditions like congenital adrenal hyperplasia.

Answer 1054

Is an X-Linked recessive inherited condition that results in hypogonadotrophic hypogonadism and a consequent failure to start puberty. Its characterised by a **delay in puberty (in males) alongside a reduced or absent sense of smell (anosmia)**.

Answer 1055

Kallmann's syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus. These include oflactory placode neuronse causing reduced sense of smell

Answer 1056

It is characterised by a failure in development of both primary and secondary sex characteristics; **alongside hyposmia / anosmia**. **Primary Sex Characteristics** * Small penis and testes * Improper testicular descent * Low sperm count **Secondary Sex Characteristics** * Lack of facial hair * Low muscle * Lack of a deep voice **Extras** * Infertility * Osteoporosis/osteopenia

Answer 1057

**Hormonal Blood Tests** * Low GnRH * Low LH and FSH * Low Testosterone * Normal levels of other pituitary hormones **Genetic Testing** * For typical gene mutations associated with Kallman's **Smell Test** **Low Sperm Count**

Answer 1058

* Testosterone supplementation * Gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Answer 1059

* **Growth hormone (GH)** Promotes growth and metabolism at various sites * **Prolactin** Stimulates breast tissue and induces lactation * **Gonadotrophins: luteinising hormone (LH) and follicle-stimulating hormone (FSH)** Stimulates the gonads to produce sex steroids (oestrogen, testosterone), promotes folliculogenesis and ovulation in females and spermatogenesis in males * **Thyroid stimulating hormone (TSH)** Stimulates thyroid glad to produce thyroid hormone production (T3 and T4) * **Adrenocorticotrophin (ACTH)** Stimulates the adrenal gland to produce cortisol

Answer 1060

* **Oxytocin** Causes uterine contraction in labour, promotes breastfeeding * **Vasopressin/anti diuretic hormone (ADH)** Acts on the kidney to reduce water excretion

Answer 1061

Pituitary adenomas are the most common type of pituitary tumors, typically benign and non-secretory in nature (although there can be hormone producing variants)

Answer 1062

They can occur at any age, but are more frequently diagnosed in adults

Answer 1063

Presentation often arises from local pressure effects on surrounding structures: * Headache: Often persistent and localised to the front of the head. * Visual Field Defects: Depending on the tumor's location within the pituitary gland, patients may experience specific visual field defects, such as bitemporal hemianopia (loss of outer peripheral vision), due to pressure on the optic chiasm.

Answer 1064

Diagnostic = **Brain MRI** Others: * Screening Tests for visual field defects * Hormone Tests: If the tumor is suspected of being a functioning (hormone secreting) adenoma

Answer 1065

* **Neurosurgery** Trans-sphenoidal surgery is the primary treatment for pituitary adenomas. It involves accessing the pituitary gland through the sphenoid sinus to remove the tumor. * **Radiotherapy** In cases where complete tumor removal is not possible or when the tumor recurs after surgery, radiotherapy may be used to manage the residual tumor. * **Medications** Some functioning adenomas can be managed with medications that target hormone overproduction.

Answer 1066

* **Hormonal Imbalances** Functioning adenomas can lead to various hormonal disorders. * **Recurrence** In some cases, adenomas may return after treatment and require further intervention. * **Surgical Risks** Surgery to remove the tumor carries inherent risks, including damage to surrounding structures and potential hormonal deficiencies.

Answer 1067

Prolactinomas are pituitary tumors characterized by excessive production of prolactin.

Answer 1068

* Microadenomas (less than 10mm) * Macroadenomas (greater than 10mm)

Answer 1069

Prolactinomas are the most common hormone-secreting tumors originating in the pituitary gland.

Answer 1070

Presentation varies by gender: **Women** * Oligomenorrhea or amenorrhea * galactorrhea (breast milk production outside of pregnancy or breastfeeding) * infertility * vaginal dryness. **Men** * Erectile dysfunction * reduced facial hair growth. **In Both Sexes** Tumor-related symptoms, such as headaches and visual field defects.

Answer 1071

* **MRI Brain** Microadenomas appear as pituitary lesions, while macroadenomas present as space-occupying tumors within the pituitary region. * **Serum Prolactin** Elevated levels of prolactin in the blood are a key diagnostic marker.

Answer 1072

**Pharmacological**: * Dopamine Agonists (e.g. Cabergoline): These drugs reduce serum prolactin levels, alleviate galactorrhea, and restore gonadal function. * Hormone Replacement Therapy: Used when fertility and galactorrhea are not primary concerns, typically involving estrogen replacement. **Surgery** * Trans-sphenoidal resection is indicated when medical treatment fails to manage the tumor effectively. **Radiotherapy** Reserved for cases where other treatments are unsuccessful.

Answer 1073

Hypopituitarism refers to a condition marked by the inadequate production of hormones by the pituitary gland. This can encompass deficiencies in growth hormone, gonadotropins (FSH and LH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH).

Answer 1074

* pituitary tumors * surgery/radiation therapy * infections * Sheehans Syndrome * Infiltrative disease (haemachromatosis/sarcoidosis) * congenital disorders.

Answer 1075

It depends on what hormone is deficient: **Growth Hormone Deficiency** * central obesity * dry skin * reduced muscle strength * decreased exercise tolerance. **FSH & LH Deficiency** In Females: Oligomenorrhea or amenorrhea, infertility, sexual dysfunction, and breast atrophy. In Males: Infertility, sexual dysfunction, and hypogonadism. **TSH Deficiency** Results in hypothyroidism **ACTH Deficiency** Leads to adrenal deficiency: * tiredness * Hypotension * reduced muscle mass * anorexia * myalgia * gastrointestinal upset. **ADH Deficiency (Diabetes Insipidus)** Causes excessive thirst and urination due to water imbalance.

Answer 1076

* Hormonal Assays (to identify deficiencies in specific hormones) * Brain MRI * Functional tests to evaluate hormone responses

Answer 1077

* Treatment of any underlying cause (e.g. surgical removal of pituitary macroadenoma) * Replacement of deficient hormones

Answer 1078

Suboptimal growth

Answer 1079

A disorder caused by excess amounts of growth hormone with characteristic clinical features.

Answer 1080

The key difference between gigantism and acromegaly is the **age of onset**. Gigantism occurs before epiphyseal plate closure (which occurs during puberty), leading to **excessive linear growth**. While acromegaly occurs after plate closure, causing enlargement of bones and soft tissues.

Answer 1081

* Excess growth hormone (GH) results in excess production of insulin-like growth factor 1 (IGF-1) * The IGF-1 receptor is distributed on a wide variety of tissues, and excess stimulation results in excess growth of these tissues * Excess growth hormone also results in increased gluconeogenesis, lipolysis, and insulin resistance

Answer 1082

Exessive Linear Growth making the child extremely large for his or her age. Other symptoms can include: * Delayed puberty * Visual difficulties * Very prominent forehead (frontal bossing) and a prominent jaw * Gaps between the teeth * Headache * Increased sweating

Answer 1083

Gigantism is abnormal growth due to an excess of growth hormone (GH) during childhood

Answer 1084

* **Pituitary adenoma** (by far the commonest cause), and can either be sporadic or associated with certain syndromes (e.g. Multiple Endocrine Neoplasia Syndrome Type 1) * **Primary pituitary hyperplasia** (less common), and can again be sporadic or associated with certain syndromes (e.g. McCune-Albright Syndrome)

Answer 1085

* **Hypothalamic source** excess GHRH from the hypothalamus causes a secondary pituitary hyperplasia * **Ectopic GHRH release** excess GHRH from ectopic tissue causes a secondary pituitary hyperplasia

Answer 1086

* **1st Line** = Insulin-like growth factor 1 * If IGF1 is raised then **glucose tolerance test** is used to confirm the diagnosis (glucose should suppress GH and failure to do so suggests gigantism/acromegaly) * Head MRI to check for pituitary tumour

Answer 1087

**Surgical** * **1st Line** is transphenoidal resection of the pituitary adenoma +/- radiotherapy * Transfrontal resection of the pituitary is another way to remove tumours **Medical** ( if surgery is contraindicated or the mechanism is not due to a pituitary adenoma) * Somatostatin analogues (octreotide, lanreoride), which suppress growth hormone release (**first line medical treatment**) * Growth hormone antagonists (pegvisomant) * Dopamine agonists (bromocriptine, cabergoline)

Answer 1088

It is an endocrine disorder characterized by excess glucocorticoids, often resulting in distinctive clinical symptoms and signs.

Answer 1089

This specifically refers to a glucocorticoid excess caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumour.

Answer 1090

More common in adults (although it can still occur in children) More common in females

Answer 1091

* **ACTH-dependent disease** This is caused by excessive production of ACTH, most often due to a pituitary tumor (Cushing's disease) or ectopic ACTH-producing tumors (e.g. lung carcinoids, thymic carcinoids, and others). * **ACTH-independent** This arises from primary adrenal diseases, such as adrenal adenomas or adrenal carcinomas, which produce excess cortisol independently of ACTH stimulation. Exogenous steroids can also cause ACTH-ibdependent Cushing's.

Answer 1092

* Striae and easy bruising * Glucose intolerance or diabetes mellitus * Obesity, particularly truncal or "centripetal" obesity * Facial changes, such as moon face and acne * Fat redistribution leading to interscapular and supraclavicular fat pads * Thin extremities due to muscle wasting * Thin, fragile skin * Fractures and osteoporosis * Psychological issues, like depression or cognitive dysfunction

Answer 1093

Metabolic syndrome Polycystic ovary syndrome Obesity Alcohol excess Depression.

Answer 1094

Biochemical evidence of cortisol exess: * 24-hour urinary free cortisol test * Low-dose Dexamethasone suppression test Localisation of source: * Plasma ACTH levels to distinguish between ACTH-dependent and independent causes * High-dose dexamethasone suppression test for suspected Cushing's disease * MRI of the pituitary and/or CT of chest and abdomen for tumor localization

Answer 1095

**Medical** to decrease cortisol levels is sometimes used as a first line. * Metyrapone (an inhibitor of cortisol synthesis) **Surgical** is the definitive treatment * Resection of the pituitary tumor is the treatment of choice for Cushing's disease (often after initial control of hypercortisolaemia with medical therapy) **Radiotherapy** * May be considered for cases where hypercortisolaemia persists post-surgery, or in cases where surgery is not possible or declined. Successful treatment of Cushing's disease leads to cortisol deficiency and subsequently, steroid replacement post-operatively is essential.

Answer 1096

Congenital Adrenal Hyperplasia (CAH) represents a collection of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects.

Answer 1097

A **deficiency in 21-hydroxylase** An enzyme critical for the production of the glucocorticoids and mineralocorticoids, cortisol and aldosterone. a deficiency of 11-beta-hydroxylase (is the issue in a small number of cases)

Answer 1098

**21-hydroxylase deficiency (90%)** * Impairs the conversion of 17-hydroxyprogesterone to 11-deoxycortisol, * leading to cortisol deficiency and excess androgen production * **Salt wasting crisis** **11-beta hydroxylase deficiency (5%)** * Results in hypertension due to excess deoxycorticosterone **17-hydroxylase deficiency (very rare)** * Leads to mineralocorticoid excess with low androgen and oestrogen levels

Answer 1099

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with **low aldosterone, low cortisol and abnormally high testosterone**.

Answer 1100

**salt-wasting crisis:** * This severe form occurs in about 75% of cases with 21-hydroxylase deficiency * It is characterized by **dehydration, hypotension, and electrolyte imbalances** * Can be life-threatening if not treated promptly.

Answer 1101

**Virilization:** * Female infants may present with ambiguous genitalia due to excessive androgen exposure in utero. * Male infants appear normal at birth, which can delay diagnosis. **Precocious Puberty:** * Excess androgens can lead to early development of secondary sexual characteristics in both males and females. **Infertility:** * Adults with untreated CAH may experience fertility issues due to hormonal imbalances. **height and growth abnormalities:** * Children with CAH often experience accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure.

Answer 1102

Hyperpigmentation occurs because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH. A byproduct of the production of ACTH is melanocyte simulating hormone. This hormone stimulates the production of melanin (pigment) within skin cells.

Answer 1103

**Blood tests:** * 17-hydroxyprogesterone, cortisol, and ACTH levels. * **Elevated 17-hydroxyprogesterone and ACTH with low cortisol suggest CAH**. * Genetic testing: Can confirm the diagnosis and identify the specific enzyme defect. * Imaging: (e.g.ultrasound) can help in the assessment of internal sex organs in patients with ambiguous genitalia.

Answer 1104

**Acute treatment for salt wasting crisis** * Fluid and sodium replacement with intravenous saline (if salt-wasting) * administration of hydrocortisone for its glucocorticoid and mineralocorticoid effects. **Long-term treatment** Lifelong hormone replacement therapy, typically with hydrocortisone and fludrocortisone as needed to replace glucocorticoid and mineralocorticoid deficiency. **Surgical intervention** In virilised females, genital surgery may be necessary to correct external genital abnormalities. **Patient education** Those dependent on steroids should be educated about the critical importance of adhering to their medication regimen and following 'sick day' rules.

Answer 1105

Androgen insensitivity syndrome is a condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors in males. This means there is extra androgens which are converted into oestrogen, resulting in female secondary sexual characteristics. It was previously known as testicular feminisation syndrome.

Answer 1106

An X-linked recessive genetic mutation in the androgen receptor gene on the X chromosome.

Answer 1107

Patients are genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally. Typical male sexual characteristics do not develop, and patients have normal female external genitalia and breast tissue.

Answer 1108

As their testes (which are located in abdomen or inguinal canal) still produce anti-müllerian hormone which prevents the development of the upper vagina, uterus, cervix and fallopian tubes.

Answer 1109

It either presents in infancy with inguinal hernias containing testes. Or it presents at puberty with primary amenorrhoea.

Answer 1110

* Raised LH * Normal or raised FSH * Normal or raised testosterone levels (for a male) * Raised oestrogen levels (for a male)

Answer 1111

* Bilateral orchidectomy (removal of the testes) to avoid testicular tumours * Oestrogen therapy * Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.

Answer 1112

* Patients are infertile * There is an increased risk of testicular cancer unless the testes are removed.

Answer 1113

Its defined as a low level of haemoglobin in the blood (below the age (and sex-) specific normal ranges.)

Answer 1114

* **Birth** - 150 – 235 grams/litre * **2 – 4 weeks** - 135 – 190 grams/litre * **4 – 8 weeks** - 95 – 130 grams/litre * **2 months – 6 years** - 110 – 140 grams/litre * **6 – 12 years**- 115 – 155 grams/litre * **Female age 12 – 18** - 120 – 160 grams/litre * **Male aged 12 – 18** - 130 -160 grams/litre

Answer 1115

* **Microcytic anaemia** <80 * **Normocytic anaemia** 80 - 100 * **Macrocytic anaemia** > 100

Answer 1116

**Physiologic Anaemia of Infancy** * Dip of Hb around 6-9 weeks * High O2 delivery to tissues at birth causes negative feedback * EPO production suppressed * Temporary Reduced Hb production

Answer 1117

* Anaemia of prematurity * Blood loss * Haemolysis * Twin-twin transfusion, where blood is unequally distributed between twins that share a placenta

Answer 1118

* Haemolytic disease of the newborn (ABO or rhesus incompatibility) * Hereditary spherocytosis * G6PD deficiency

Answer 1119

Premature neonates are much more likely to become significantly anaemic during the first few weeks of life compared with term infants. The more premature (and the more unwell) the infant, the more likely they will be anaemic.

Answer 1120

* Less time in utero receiving iron from the mother * Red blood cell creation cannot keep up with the rapid growth in the first few weeks * Reduced erythropoietin levels * Blood tests remove a significant portion of their circulating volume

Answer 1121

(TAILS) **T** – Thalassaemia **A** – Anaemia of chronic disease **I** – Iron deficiency anaemia **L** – Lead poisoning **S** – Sideroblastic anaemia

Answer 1122

(3 As and 2 Hs) **A** – Acute blood loss **A** – Anaemia of Chronic Disease **A** – Aplastic Anaemia **H** – Haemolytic Anaemia **H** – Hypothyroidism

Answer 1123

* Megaloblastic anaemia - the result of impaired DNA synthesis preventing the cell from dividing normally. * Normoblastic anaemia

Answer 1124

* B12 deficiency * Folate deficiency

Answer 1125

* Alcohol * Reticulocytosis (usually from haemolytic anaemia or blood loss) * Hypothyroidism * Liver disease * Drugs such as azathioprine

Answer 1126

**Symptoms** * Tiredness * Shortness of breath * Headaches * Dizziness * Palpitations * Worsening of other conditions Pica and Hair loss for Iron deficiency **Signs** * Pale skin * Conjunctival pallor * Tachycardia * Raised respiratory rate **Others**: * Koilonychia - spoon shaped nails (iron deficiency) * Angular chelitis (iron deficiency) * Atrophic glossitis - smooth tongue due to atrophy of the papillae (iron deficiency) * Brittle hair and nails (iron deficiency) * Jaundice (haemolytic anaemia) * Bone deformities (thalassaemia)

Answer 1127

* **Full Blood Count (FBC)** For determining haemoglobin levels, red cell count and other important parameters. * **Reticulocyte Count** To assess bone marrow response. * **Iron studies** For diagnosing iron deficiency anaemia. * **Vitamin B12 and Folate levels** * **Genetic testing** For conditions like thalassemia and sickle cell disease.

Answer 1128

Depends on the underlying cause: * **Iron supplementation** In cases of iron deficiency, often coupled with dietary advice. * **Vitamin B12 or Folate supplementation** In cases of their respective deficiencies. * **Transfusion** In severe cases of anaemia, blood transfusion may be necessary. * **Treatment of underlying diseases** Conditions like chronic renal failure or infection require specific treatment.

Answer 1129

Thalassaemia is a group of inherited disorders characterised by abnormal haemoglobin production. Defects in the four genes that form α-globin result in α-thalassaemia. While defects in the two genes for β-globin result in β-thalassaemia. The clinical severity of the syndrome is proportional to the number of absent or abnormal genes.

Answer 1130

It's prevalent in populations originating from Mediterranean Europe, Central Africa, the Middle East, the Indian subcontinent and Southeast Asia.

Answer 1131

Autosomal recessive

Answer 1132

Its caused by caused by nonfunctioning copies of the four α-globin genes on **chromosome 16**. * Patients with **two defective copies** have a mild asymptomatic anaemia – so-called α-thalassaemia trait * Those with **three defective copies** have symptomatic haemoglobin H disease * Inheritance of **four defective copies** (hydrops fetalis) is incompatible with life (**Inutero death**) The lack of α-globin chains results in excess γ-chains (creating Hb Barts), which are poor carriers of oxygen owing to their high affinity for oxygen.

Answer 1133

Its caused by caused by nonfunctioning copies of the two β-globin genes located on **chromosome 11**. There are 3 types based on the type of defect: * **Thalassaemia minor** Patients have one abnormal and one normal gene. It causes a mild microcytic anaemia and usually only requires monitoring and no active treatment. * **Thalassaemia intermedia** Patients have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene.It causes a more significant microcytic anaemia. Patients require monitoring and occasional blood transfusions. * **Thalassaemia major** Patients are homozygous for the deletion genes. They have no functioning beta globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Answer 1134

* Hypochromic, Microcytic anaemia (low mean corpuscular volume) * Fatigue * Pallor * Jaundice * Gallstones * Splenomegaly * Poor growth and development * Pronounced forehead and malar eminences * Failure to thrive in infants

Answer 1135

In thalassaemia the red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. In patients with thalassaemia, the spleen collects all the destroyed red blood cells, resulting in splenomegaly.

Answer 1136

* Full blood count shows a microcytic anaemia. * Haemoglobin electrophoresis is diagnostic for globin abnormalities. * DNA testing can be used to look for the genetic abnormality.

Answer 1137

* Blood transfusions * Splenectomy is an option * Bone marrow (stem cell) transplant can be curative * Regular folic acid can also be given, especially in those who are pregnant.

Answer 1138

* Regular blood transfusions can lead to overload so requires Iron chelation therapy with desferrioxamine * Hydroxycarbamide/hydroxyurea * Bone marrow transplant can be curative

Answer 1139

Iron overload

Answer 1140

* Fatigue * Liver cirrhosis * Infertility * Impotence * Heart failure * Arthritis * Diabetes * Osteoporosis and joint pain

Answer 1141

* Iron Chelation (Desferrioxamine, Deferiprone, Deferasirox) * Limiting transfusions

Answer 1142

* Cardiomyopathy/cardiac arrhythmia/cardiac failure * Acute sepsis – bacterial sepsis (risk is further increased after splenectomy) * Liver cirrhosis, portal hypertension and acute decompensation * Hypocalcaemia with tetany due to hypoparathyroidism * Diabetes

Answer 1143

Haemolytic Disease of the Newborn (HDN) is an immunological condition that arises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby while in utero.

Answer 1144

HDN occurs due to an immune response following rhesus or ABO blood group incompatibility between the mother and foetus. Sesitisation events where the mother and foetus's blood can mix include: * Antepartum haemorrhage * placental abruption * abdominal trauma * external cephalic version * invasive uterine procedures such as amniocentesis and chorionic villus sampling * rhesus positive blood transfusion to a rhesus negative woman * intrauterine death * miscarriage or termination * ectopic pregnancy * delivery

Answer 1145

* Hydrops foetalis appearing as foetal oedema in at least two compartments, seen on antenatal ultrasound * Yellow coloured amniotic fluid due to excess bilirubin * Neonatal jaundice and kernicterus * Foetal anaemia causing skin pallor * Hepatomegaly or splenomegaly * Severe oedema if hydrops foetalis was present in utero

Answer 1146

* **Spherocytosis** Characterised by haemolytic anaemia, jaundice, and splenomegaly * **G6PD deficiency** Causes episodic haemolysis, jaundice and pallor * **Thalassemia** Presents with anaemia, hepatosplenomegaly, and jaundice

Answer 1147

**First Line:** * Maternal Blood Group and Antibody Screen: Determines maternal Rh status and screens for antibodies against fetal red blood cells (e.g., anti-D antibodies). * Fetal Ultrasound: To detect signs of hydrops fetalis, such as fluid accumulation and organomegaly. * Core blood sampling: blood from umbilical cord tested for type, DAT and Hb levels **Gold standard:** * Direct Antiglobulin (Coombs) Test: Detects maternal ABs bound to neonates RBCs

Answer 1148

**Prevention of Rhesus disease with Anti-D prophylaxis** * **Intrauterine transfusions** if severe anaemia is detected in the foetus * Early delivery if the condition is severe * **Postnatal management with phototherapy** or exchange transfusion to manage high bilirubin levels * **Immunoglobulin administration** to the newborn to prevent further haemolysis * **Regular follow-up** to assess for any developmental issues

Answer 1149

Sickle cell disease is a disorder affecting red blood cells, originating from an autosomal-recessive single gene defect in the beta chain of haemoglobin (chromosome 11). This defect leads to the production of an abnormal form of haemoglobin, referred to as sickle cell haemoglobin (HbS).

Answer 1150

Most prevalent in individuals of African, Hispanic, and Mediterranean descent.

Answer 1151

The characteristic sickle-shaped red blood cells are susceptible to clumping (aggregation) and premature destruction (haemolysis). These events can result in obstructed blood flow, precipitating painful vaso-occlusive crises, damage to major organs, and increased susceptibility to severe infections.

Answer 1152

Having one copy of the gene (sickle cell trait) reduces the severity of malaria. As a result, patients with sickle cell trait are more likely to survive malaria and pass on their genes.

Answer 1153

* **Vaso-occlusive crises** characterized by severe pain due to tissue ischaemia * **Anaemia** (due to increased haemolysis of sickled cells) * **Jaundice** (a consequence of haemolysis) * **Episodes of acute chest syndrome** (resulting from lung infarction)

Answer 1154

Sickle cell crisis refers to a spectrum of acute exacerbations caused by sickle cell disease. These range from mild to life-threatening. They can occur spontaneously or triggered by dehydration, infection, stress or cold weather. They're managed supportively with: * Treating infections that may have triggered the crisis * Keep warm * Good hydration (IV fluids may be required) * Analgesia

Answer 1155

Also known as painful crisis and is the most common type of sickle cell crisis. It is caused by the sickle-shaped red blood cells clogging capillaries, causing distal ischaemia. Presents with: * Typically pain and swelling in the hands or feet * But can also affect the chest, back, or other body areas. * Can be associated with fever. * Priapism

Answer 1156

Is caused by a vaso-occlusive crisis. It occurs by trapping blood in the penis, causing a painful and persistent erection. Priapism is a urological emergency, treated by aspirating blood from the penis.

Answer 1157

It's is caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen. Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock. Its an emergency and is treated with blood transfusions and fluid resuscitation to treat anaemia and shock. Splenectomy prevents sequestration crises and can be used in recurrent cases. Splenic sequestration crisis can lead to splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (e.g., Streptococcus pneumoniae and Haemophilus influenzae).

Answer 1158

It describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19. It leads to significant anaemia (aplastic anaemia). Management is with blood transfusions if necessary. But It usually resolves spontaneously within around a week.

Answer 1159

Acute chest syndrome occurs when the vessels supplying the lungs become clogged with red blood cells causing **pulmonary infarction of the lung parenchyma** A vaso-occlusive crisis, fat embolism or infection can trigger it. It presents with: * fever * shortness of breath * chest pain * cough * hypoxia * A chest x-ray will show pulmonary infiltrates.

Answer 1160

Acute chest syndrome is a medical emergency with high mortality. It requires prompt supportive management and treatment of the underlying cause: * Analgesia * Good hydration (IV fluids may be required) * Antibiotics or antivirals for infection * Blood transfusions for anaemia * Incentive spirometry using a machine that encourages effective and deep breathing * Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation

Answer 1161

* Other causes of haemolytic anaemia e.g. thalassaemia and G6PD deficiency, which can also present with jaundice and anaemia. * Autoimmune disorders, which can cause a chronic inflammatory state. * Conditions causing painful crises unrelated to vaso-occlusion, e.g. fibromyalgia

Answer 1162

* **Complete blood count**: to detect the presence of anaemia * **Peripheral blood smear**: to visually identify sickle-shaped cells * * **Gold standard: Haemoglobin electrophoresis**: to confirm the presence of HbS

Answer 1163

**Acute Management**: * Pain relief: Strong analgesics (often IV opiates) for vaso-occlusive crises * Oxygen supplementation: As required, particularly in cases of acute chest syndrome * Intravenous fluids: To maintain hydration and improve blood flow * Top-up transfusions: May be required in severe crises or aplastic crisis **Long-term Management**: * Regular transfusions, folic acid supplementation, and iron chelation therapy (To manage chronic haemolytic anaemia) * Prophylactic antibiotics: In asplenic patients to prevent infections * Immunisations: Regular influenza and pneumococcal vaccines * Genetic counselling: Available for affected individuals and their families * **Hydroxycarbamide** keeps blood cells rounder * Crizanlizumab * Bone marrow transplant can be curative

Answer 1164

It works by stimulating the production of fetal haemoglobin (HbF). Fetal haemoglobin does not lead to the sickling of red blood cells (unlike HbS). It therefore reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan.

Answer 1165

Crizanlizumab is a monoclonal antibody that targets P-selectin. P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets. It therefore prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

Answer 1166

Haemophilia A and B are both X-linked recessive inherited bleeding disorders. * Haemophilia A is caused by a deficiency in clotting factor VIII * Haemophilia B is caused by a deficiency in clotting factor IX

Answer 1167

**Haemophilia A** (1 in 5,000 men) while Haemophilia B is (1 in 25,000 men)

Answer 1168

* Patients can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma. * Most cases present in neonates or early childhood with spontaneous deep and severe bleeding into soft tissues, joints and muscles. As well as possible intracranial haemorrhage, haematomas and cord bleeding. * Bleeding into joints (haemarthrosis) can result in a deforming arthropathy.

Answer 1169

**Other bleeding conditions** * **Von Willebrand Disease** * **Other Factor Deficiencies** Rarer deficiencies in factors I, V, VII, X, XI, and XIII, can lead to bleeding tendencies and mimic haemophilia. * **Platelet Disorders** such as ITP/TTP * **Liver Disease** * **Haematological Malignancies** e.g. Leukemias, lymphomas, and myelodysplastic syndromes

Answer 1170

**First Line: Blood Tests:** * FBC - rule out thrombocytopenias * **Clotting profile: APTT is elevated PT is normal** * vWF antigen is normal in haemophilia A * LFTs rule out liver synthetic dysfunction **Gold standard Diagnosis** - factor VIII/IX assay (Coagulation factor assays)

Answer 1171

**Factor VIII/IX infusion regularly or during bleeding event** * In minor bleeds in patients with haemophilia A, **Desmopressin can be given (as it increases factor VIII levels).** * In more severe cases the recombinant clotting factor is more likely to be goven prophylactically. * Supportive management involves antifibrinolytics (eg. tranexamic acid) and vaccination against Hep B.

Answer 1172

Some patients form antibodies (called inhibitors) against the clotting factor, resulting in the treatment becoming ineffective; which can worsen bleeding and complicate therapy.

Answer 1173

Von Willebrand disease is an inherited bleeding disorder characterized by a reduced quantity or function of von Willebrand factor (VWF).

Answer 1174

Von Willebrand disease (VWD) is the most common inherited cause of abnormal and prolonged bleeding. It occurs equally in men and women, but women are more likely to experience symptoms due to the increased bleeding it causes during their menstrual periods, pregnancy, and childbirth.

Answer 1175

**Autosomal Dominant** In VWD there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF). This protein normally links platelets to the exposed endothelium and stabilises clotting factor VIII, and its deficiency or dysfunction leads to an increased risk of bleeding.

Answer 1176

Autosomal dominant

Answer 1177

* **Type 1** - partial deficiency of VWF (most common and mildest type) * **Type 2** - reduced function of VWF * **Type 3** - complete deficiency of VWF (most rare and severe type and is autosomal recessive)

Answer 1178

* Excess or prolonged bleeding from minor wounds * Excess or prolonged bleeding post-operatively * Easy bruising * Menorrhagia * Epistaxis * GI bleeding

Answer 1179

**Haemophilia** Presents with similar symptoms. But bleeding into joints or muscles is more common in haemophilia. While in VWD, menorrhagia and GI bleeding are more common. Coagulation profile: * APPT raised in haemophilia but normal bleeding time * Bleeding time raised in VWD but normal APPT

Answer 1180

**1st Line:** * **Clotting tests** * prolonged bleeding time * APTT may be prolonged * Others normal * **Family history of vWD** * Others - Normal Platlet level, vWF antigen, vWF activity, and factor VIII clotting activity. **Gold standard** * Von Willebrand factor level and activity assay

Answer 1181

**First Line:** * **Desmopressin** (stimulates the release of vWF from endothelial cells) * Tranexamic acid **If bleeding isn't stopping** * Von Willebrand factor infusion * Factor VIII plus von Willebrand factor infusion

Answer 1182

* Tranexamic acid * Mefenamic acid * Mirena coil * Combined oral contraceptive pill * Norethisterone A hysterectomy (surgical removal of the uterus) may be required in severe cases of heavy menstrual bleeding.

Answer 1183

Immune thrombocytopenia purpura (ITP) is an autoimmune condition, characterised by a reduction in the number of circulating platelets. It is a **type II hypersensitivity reaction whereby the spleen produces antibodies are directed against the glycoprotein IIb/IIIa** or Ib-V-IX complex.

Answer 1184

It occurs in 2 populations: * **Children** - where it often presents as a self-limiting disease following a viral infection * **Adults** - where it tends to manifest as a chronic disease with a relapsing course

Answer 1185

* **History of recent viral infection** * Easy or excessive bruising (purpura) * **Petechiae** - Superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-purple spots; usually on the lower legs. * Prolonged bleeding from cuts * Spontaneous bleeding from the gums or nose - ITP presents with **mucocutaenous bleeding** (rather than e.g. haemarthrosis which is often associated with defects in the coagulation cascade like in haemophilia) * Blood in urine or stools * Unusually heavy menstrual flow

Answer 1186

* **Thrombotic thrombocytopenic purpura** Purpura, fatigue, fever, thrombocytopenia, haemolytic anaemia, and neurological abnormalities. * **Henoch-Scholein Purpura** * **Aplastic anaemia** Fatigue, shortness of breath with exertion, rapid or irregular heart rate, pale skin, frequent or prolonged infections, unexplained or easy bruising, nosebleeds and bleeding gums, prolonged bleeding from cuts, skin rash, dizziness, and headache. * **Leukaemia**

Answer 1187

* Full Blood Count (FBC) demonstrating isolated thrombocytopenia * Thromocytopenia * Normal Hb, * Normal WCC * Blood smear - Reduced platelets * Further tests to exclude other differential diagnoses * Bone marrow examination, which is only required if the case appears atypical

Answer 1188

Conservative, with a **watch-and-wait approach** typically adopted due to the high rate of spontaneous remission. **First line if management required:** * Steroids (Prednisolone) **Second Line:** * **IV IG** if steroids are CI or ineffective (IV IG and Anti-D immunoglobulin) **Severe life-threatening bleeds** * Platelet transfusions should be avoided unless there is life-threatening bleeding. (Because giving more platelets will increase the rate of platelet destruction). * In refractory cases, splenectomy may be considered.

Answer 1189

Thrombotic thrombocytopenic purpura (TTP) is a condition where tiny thrombi develop throughout the small vessels, using up platelets. As the problem is in the small vessels, it is described as a microangiopathy. It causes: * Thrombocytopenia * Purpura * Tissue ischaemia and end-organ damage

Answer 1190

A problem with a specific protein called **ADAMTS13** ADAMTS13 usually: * Inactivates von Willebrand factor * Reduces platelet adhesion to vessel walls * Reduces clot formation Therefore in TTP there are large multimers of vWF leading to increased platelet adhesion and consumption of platelets

Answer 1191

* **Hereditary Genetic Mutation** * **Autoimmune disease** **ADAMTS** AIDS(HIV) DRUGS... OCP, PENCILIN, CLOPIDOGRIL, CICLOSPORIN AUTOIMMUNE(SLE) MALIGNANCIES/ TUMORS SEPSIS(INFECTION)

Answer 1192

Plasma exchange, steroids and rituximab.

Answer 1193

Acute lymphoblastic leukaemia (ALL) is a malignant condition that arises from the uncontrolled proliferation of genetically altered lymphoid progenitor cells.

Answer 1194

ALL is the most common type of leukaemia in children. The peak incidence is in children is between 2 and 5 years of age. But it shows a bimodal distribution, with a second, smaller peak in adults over the age of 80.

Answer 1195

ALL develops when a lymphoid progenitor cell becomes genetically altered through somatic changes, leading to uncontrolled proliferation. This results in early lymphoid precursors replacing the normal haematopoietic cells of the bone marrow and infiltrating various body organs.

Answer 1196

**Lymphadenopathy** (most common sign) Failure to thrive B Symptoms (weight loss, fever, night sweats) **Signs of Bone marrow failure** * anaemia: lethargy and pallor * neutropaenia: frequent or severe infections * thrombocytopenia: easy bruising, petechiae **other features** * bone pain (secondary to bone marrow infiltration) * splenomegaly/hepatomegaly * **fever** is present in up to 50% of new cases (representing infection or constitutional symptom) * testicular swelling

Answer 1197

* **Non-Hodgkin lymphoma** Characterised by lymphadenopathy, fever, weight loss, and sweating. * **Infectious mononucleosis** Marked by fever, sore throat, fatigue, and lymphadenopathy. * **Aplastic anaemia** Presents with fatigue, pallor, and bleeding or bruising. * **Myelodysplastic syndromes** Characterised by cytopenias leading to symptoms such as fatigue, pallor, and bleeding or bruising.

Answer 1198

**First Line: Full blood count (within 48 hrs of suspected leukaemia)** * Pancytopenia (may have high or low lymphoid cells) * A blood film is used to look for abnormal cells and inclusions. (Blast cells) * Lymphoblast cells **Gold Standard** * **Bone Marrow Biopsy** (Diagnostic) **Staging:** * CT and PET scans may be used to help stage the condition. * Lymph node biopsy can be used to assess abnormal lymph nodes. * Chest X-ray * LP

Answer 1199

**Down's Syndrome** It can also be associated with the Philadelphia chromosome (but this is more associated with chronic myeloid leukaemia) **ALSO** * Kleinfelter syndrome * Noonan syndrome * Fanconi’s anaemia

Answer 1200

**Chemotherapy:** To kill cancer cells or prevent their growth. Potentially Radiation therapy: Used in certain cases to kill cancer cells or prevent their spread. **Bone marrow transplant:** Can be utilised to replace the diseased bone marrow with healthy stem cells, typically after high-dose chemotherapy or radiation therapy.

Answer 1201

Paediatric brain tumours are abnormal growths of cells in the brain that occur in children. They can be benign (non-cancerous) or malignant (cancerous). They can originate from various structures within the brain, such as: * Astrocytes (astrocytomas) * Meninges (meningiomas) * Cells of the ventricular system (ependymomas) * Pituitary gland (craniopharyngiomas).

Answer 1202

Brain tumours are the leading cause of cancer-related deaths in children and are the most common solid-organ malignancy in the paediatric population.

Answer 1203

Neurofibromatosis or Li-Fraumeni syndrome

Answer 1204

* Persistent headaches that are worse in the morning * Signs of raised intracranial pressure such as nausea, vomiting, and altered consciousness * Seizures in an older child (with no fever and no previous history of seizures) * Depending on the location of the tumour, patients can present with focal neurological deficits

Answer 1205

* Migraine * Intracranial hypertension * Epilepsy * Meningitis

Answer 1206

**MRI or CT imaging** of the brain to visualise any space-occupying lesions and characterise their location, size, and potential type. **Biopsy**: may be required to definitively diagnose the tumour type and grade

Answer 1207

**Chemotherapy** may be used to shrink tumours before surgery or to kill remaining cancer cells after surgery. **Radiotherapy** may be used as a primary treatment, adjuvant to surgery, or for tumours that are not amenable to surgery. **Surgical intervention** can be used for complete or partial removal of the tumour.

Answer 1208

Wilms' tumour, (also known as a **nephroblastoma**), is a malignant embryonic tumour originating from the developing kidney. It is the most common abdominal tumour in paediatric patients.

Answer 1209

It predominantly affects children under 5 years of age, with a peak incidence between 3-4 years.

Answer 1210

* WAGR syndrome (Wilms' tumour, Aniridia, Genitourinary anomalies, and mental Retardation) * Beckwith-Wiedemann syndrome * Denys-Drash syndrome

Answer 1211

* A palpable abdominal mass that **does not cross the midline**, although it may be bilateral in up to 5% of cases. * Abdominal flank pain * Abdominal distension * Painless Haematuria * Hypertension * Lethargy * Fever * Weight Loss Although it is often asymptomatic unless the tumour grows sufficiently large to cause pain or disrupt other abdominal structures.

Answer 1212

* **Neuroblastoma** Presents with an abdominal mass that often crosses the midline. Other symptoms may include fever, weight loss, bone pain, and under certain conditions, opsoclonus-myoclonus syndrome. * **Mesoblastic Nephroma** Mainly presents with a palpable abdominal mass and hypertension. * **Renal Cell Carcinoma** Presents in adults and is rarely found in children.

Answer 1213

* **Ultrasound** of the abdomen to visualise the kidneys (1st line) * **CT or MRI scan** can be used to stage the tumour * **Renal Biopsy** to identify the histology of the tumour (diagnostic)

Answer 1214

Treatment = **surgical excision of the tumour** along with the affected kidney (nephrectomy). Adjuvant treatment (either chemotherapy or radiotherapy) can be offered after initial management with surgery.

Answer 1215

A type of neuro-endocrine tumour that arises from neural crest tissue of the adrenal medulla (the most common site) and sympathetic chain

Answer 1216

* **Most common solid organ cancer outside of CNS** * Median onset is 20 months * Peak incidence is below 5 years old

Answer 1217

**Early Signs** * Abdominal mass that often crosses the midline * Failure to thrive * Fatigue **Late Signs** * Sympathetic signs * **Racoon eyes:** periorbital ecchymosis due to bone mets * **Blueberry Muffin Rash** due to skin mets

Answer 1218

* **Urinary VMA & HVA** is the screening test of choice raised urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) * MRI Abdomen is **gold standard** to image primary tumour * MIGB Scan is gold standard to assess for mets * Biopsy provides a definitive diagnosis and shows **homer-Wright rosettes**

Answer 1219

- Principle 1 = Watch and wait for low risk children < 18 months old - Principle 2 = Surgical ressection ± adjuvant chemo or radiotherapy

Answer 1220

- Recurrence is the most common complication - **Opsoclonus myoclonus syndrome** (Dancing Eyes-Dancing Feet Syndrome)

Answer 1221

Retinoblastoma is a malignant neoplasm originating from the retina. It's the most prevalent intraocular tumour in the paediatric population.

Answer 1222

Its considered a rare disease, with only 50-60 children being diagnosed annually.

Answer 1223

Retinoblastomas can be hereditary or non-hereditary. * The hereditary type is caused by germline mutations in the RB1 tumour supressor gene. * While the non-hereditary type is caused by somatic mutations in the same gene. Mutations to RB1 are also more associated with increased risk to other cancers like osteosarcomas and soft tissue sarcomas.

Answer 1224

* **Leukocoria**, or white pupil where there is absence of the red reflex (Most common clinical sign) * Deteriorating vision * Strabismus * Failure to thrive * eye enlargement (in developing nations)

Answer 1225

* **Congenital Cataracts** Present with clouding of the eye's lens at birth. * **Congenital Toxoplasmosis** A TORCH infection that may lead to ocular findings. * **Congenital Rubella Syndrome** Can cause retinopathy with a characteristic "salt-and-pepper" appearance of the retina. * **Persistent hyperplastic primary vitreous** Manifests as leukocoria and microphthalmia * **Retinopathy of prematurity** Presents with abnormal retinal vascular development

Answer 1226

* Detailed ophthalmic examination, including indirect ophthalmoscopy under anaesthesia. * MRI imaging

Answer 1227

* Immediate intervention is crucial to maximize the child's survival chances. (80% live to adulthood) * Aimed at preserving as much sight as possible whilst improving life expectancy * Management may encompass **External Beam radiotherapy** or **enucleation**, often in conjunction with **chemotherapy**.

Answer 1228

Osteosarcoma is the most common primary malignant bone tumour that commonly occurs in the **metaphyseal region of long bones** prior to epiphyseal closure

Answer 1229

It is the most common primary malignant bone tumor in children and adolescents. Its peak incidence is between the ages of 10-20 years (corresponding with the pubertal growth spurt).

Answer 1230

* **Periods of rapid bone growth** * History of radiation exposure * Pagets disease of the bone * Li-Fraumeni syndrome * retinoblastoma

Answer 1231

**The Femur** Other common sites include the tibia and humerus

Answer 1232

* **Persistent bone pain thats worse at night time** (and may disturb or wake them from sleep). This pain is often mistaken for growing pains or sports injuries. * Swelling, typically in the region of the long bone metaphyses * Decreased range of motion * Possible pathologic fracture in affected area

Answer 1233

* **Ewing sarcoma** Presents with pain and a soft tissue mass. Fever, anemia, and elevated ESR and LDH are more common than in osteosarcoma. * **Chondrosarcoma** Predominantly occurs in adults. * **Lymphoma of bone** Mmore likely to have systemic symptoms, such as weight loss, fever, and night sweats compared to osteosarcoma. * **Non-ossifying fibroma** Characterized by an asymptomatic, radiolucent lesion often found incidentally on imaging.

Answer 1234

* 1st Line - **XRay shows codmans triangle** * Upon identifying potential signs on X-ray, an urgent **full body CT** is performed to assess for metastases. * Definitive diagnosis is confirmed using **bone biopsy** * Blood tests may show a raised alkaline phosphatase (ALP).

Answer 1235

New bony growth with a periosteal reaction causing a sunburnt appearance.

Answer 1236

* **Surgical resection** of the lesion, often with a limb amputation * **Radiotherapy**, particularly for patients with inoperable tumors or to enhance local control in case of inadequate surgical margins * **Chemotherapy**, including drugs like methotrexate, cisplatin, and doxorubicin * Follow-up imaging to monitor for recurrence or metastasis

Answer 1237

A hepatoblastoma is a rare, malignant tumour of the liver.

Answer 1238

* It is the most common form of liver cancer in children. * Peak incidence is before the age of 3 years

Answer 1239

* Abdominal mass * Abdominal pain * Pallor * Fatigue * Weight loss * Vomiting

Answer 1240

* Increased **alpha-fetoprotein (AFP)** levels in the blood (first line). As hepatoblastoma tumours secrete this. * Imaging such as CT and MRI scans * Diagnostic - **Liver biopsy**

Answer 1241

* Surgical resection of the tumour alongside adjuvant chemotherapy if nescesary. * Sometimes liver transplantation is required.

Answer 1242

Turner syndrome (45, XO) is a condition that only affects females and occurs when one of the X chromosomes is missing or partially missing.

Answer 1243

* **Short stature** * **Webbed neck** * **Widely space nipples** * Lymphoedema of hands and feet in neonate, may persist * Spoon-shaped nails * Wide carrying angle * **Congenital heart defects** - bicuspid aortic valve (most common), coarctation of the aorta. * **Delayed pubert**y * **Ovarian dysgenesis causing infertility** - USS findings of ovary streaks. * **Hypothyroidism** * **Recurrent otitis media** * Normal intellect * Cubitus Valgus - an abnormal feature of the elbow (When the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body).

Answer 1244

* **Recurrent otitis media** * **Recurrent urinary tract infections** * **Bicuspid Aortic Valve** * **Coarctation of the aorta** * **Increased risk of aortic dissection and dilation** * Hypothyroidism * Hypertension * Obesity * Diabetes * Osteoporosis * Various specific learning disabilities

Answer 1245

**Pre-natally**: * amniocentesis or chorionic villus sampling (CVS) **After birth**: * A definitive diagnosis requires confirmation with karyotyping (chromosomal analysis) after birth.

Answer 1246

There is no way to treat the underlying genetic cause of Turner syndrome. Treatment aims to help with the symptoms of the condition: * **Growth hormone therapy**- used to prevent short stature * **Oestrogen and progesterone replacement** - to help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis * **Fertility treatment** can increase the chances of becoming pregnant * Management of the conditions associated with Turner's (e.g. hypertension and hypothyroidism)

Answer 1247

Infertility **Increased risk of Aortic Dissection** which requires regular monitoring in adult life

Answer 1248

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY. This is associated with more severe features.

Answer 1249

* Type 2 diabetes * Osteoporosis * CVD (e.g. DVTs and PEs) * Autoimmune conditions, e.g. SLE * Hypothyroidism * Depression and anxiety

Answer 1250

**often taller than average** **lack of secondary sexual characteristics** Wider hips **Gynaecomastia** Weaker muscles Small testicles Reduced libido Shyness **Infertility** Subtle learning difficulties (particularly affecting speech and language)

Answer 1251

Increased maternal age

Answer 1252

* Hormonal blood tests (1st line) * A definitive diagnosis requires confirmation with **karyotyping**.

Answer 1253

**Treatment related** * Testosterone injections improve many of the symptoms * Advanced IVF techniques have the potential to allow fertility * Breast reduction surgery for cosmetic purposes **MDT Approach** * Speech and language therapy to improve speech and language * Occupational therapy to assist in day to day tasks * Physiotherapy to strengthen muscles and joints * Educational support where required for dyslexia and other learning difficulties

Answer 1254

Down’s Syndrome is caused by a person having three copies of chromosome 21. It is also called trisomy 21. It gives characteristic dysmorphic features and is associated with a number of associated conditions.

Answer 1255

Increased maternal age

Answer 1256

* **Gamete non-disjunction** Accounts for ~95% of cases; the incidence increases with maternal age. * **Robertsonian translocation** Sometimes referred to as familial Down syndrome or translocation Down syndrome; accounts for ~4% of cases. * **Mosaic Down syndrome** The least common form, accounting for ~1% of cases; this often leads to variable expression of the Down syndrome phenotype.

Answer 1257

* face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face * flat occiput * single palmar crease, pronounced 'sandal gap' between big and first toe * hypotonia * congenital heart defects (40-50%, see below) * duodenal atresia * Hirschsprung's disease

Answer 1258

**Cardiac complications** * **Endocardial cushion defect** (most common, 40%, also known as atrioventricular septal canal defects) * **ventricular septal defect** (c. 30%) * secundum atrial septal defect (c. 10%) * **tetralogy of Fallot** (c. 5%) * **Isolated patent ductus arteriosus** (c. 5%) **Later complications** * subfertility/infertility * learning difficulties * short stature * repeated respiratory infections * Hearing impairment from glue ear) * **Acute lymphoblastic leukaemia** * hypothyroidism * **Alzheimer's disease** * atlantoaxial instability

Answer 1259

**Combined Test** * First line and most accurate. * Its done between 11 and 14 weeks gestation * USS nuchal translucency * B-hCG * Pregnancy‑associated plasma protein‑A (PAPPA) **Quadruple Test** * Between 15 and 20 weeks gestation. * B-hCG * AFP * Serum Unconjugated Oestriol * Inhibin-A **If screening returns with a risk score > 1 in 150 then the women is offered** * Second screening via **NIPT** (Anytime and less invasive) * Diagnostic Tests Via: * Chorionic Villus Sampling (prior to 15 weeks) * Amniocentesis (After 15 weeks)

Answer 1260

**Combined Test** * Down's syndrome is suggested by **↑ HCG, ↓ PAPP-A, thickened nuchal translucency (> 6mm)** * Edward syndrome and Patau syndrome give similar results but the **hCG tends to lower** **Quadruple Test:** * Downs: ↑ hCG, ↑ Inhibin-A, ↓ AFP, ↓ Estriol * Edwards: ↓ hCG, ↔ Inhibin-A , ↓ AFP, ↓ Estriol * Patau: ↑ AFP, Rest are normal

Answer 1261

Management involves supportive care from the multidisciplinary team to help them meet their needs: * Occupational therapy * Speech and language therapy * Physiotherapy * Dietician * Paediatrician * GP * Health visitors * Cardiologist for congenital heart disease * ENT specialist for ear problems * Audiologist for hearing aids * Optician for glasses * Social services for social care and benefits * Additional support with educational needs * Charities such as the Down’s Syndrome Association

Answer 1262

* Regular thyroid checks (2 yearly) * Echocardiogram to diagnose cardiac defects * Regular audiometry for hearing impairment * Regular eye checks

Answer 1263

Also known as Trisomy 18, is a genetic condition caused by a person having 3 copies of chromosome 18. Most of these babies will die before or shortly after birth.

Answer 1264

It is the second most common Trisomy disorder (after Down's Syndrome). While the least common is Patau's Syndrome (trisomy 13).

Answer 1265

* **Low-set ears** * **Micrognathia** * Microcephaly * Overlapping 4th and 5th fingers * **Rocker bottomed feet** * Congenital heart disease

Answer 1266

**Full Edwards' syndrome** Babies have an extra chromosome 18 present in all cells. This is the most common form. Its also the most severe, and most babies with this form will die before birth. **Mosaic Edwards' syndrome** Babies only have an extra chromosome 18 in just some cells. This occurs in around 1 in 20 cases. This leads to a milder form of the condition and most babies will live past their 1st b'day (or even into adulthood). **Partial Edwards' syndrome** babies have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. Presentation will depend on what part of chromosome 18 is present in their cells.

Answer 1267

Management of trisomy disorders is largely supportive and symptomatic: * **Supportive care**: Addressing feeding difficulties, cardiac complications, respiratory problems, and other associated issues. * **Genetic counselling**: Providing information and support to families. * **Multidisciplinary approach**: Involving paediatricians, cardiologists, surgeons, speech therapists, occupational therapists, and physiotherapists.

Answer 1268

* **Other chromosomal disorders** Distinct signs and symptoms can overlap with trisomy disorders. * **Congenital infections** Some features such as microcephaly can be present. * **Metabolic disorders** Can also present with various developmental anomalies.

Answer 1269

Also known as Trisomy 13, is a genetic condition caused by a person having 3 copies of chromosome 13. It severely disrupts normal development and, in many cases, results in miscarriage, stillbirth or the baby dying shortly after birth. (As with Trisomy 18; there are Full, Mosaic and Partial subtypes)

Answer 1270

* Microcephalic, small eyes * Cleft lip/palate * Polydactyly * Scalp lesions

Answer 1271

Fragile X Syndrome is a **Trinucleotide repeat disorder** of **CGG** It is caused by a mutation in the **FMR1 (fragile X mental retardation 1) gene on the X chromosome** FMR1normally plays a role in cognitive development in the brain leaving patients with severe learning difficulties

Answer 1272

Fragile X Syndrome is the most common inherited form of learning disabilities. As it is X-linked dominant, the extent to which females are effected can vary (as they have a spare normal copy of the FMR1 gene on their other X chromosome).

Answer 1273

**Trinucleotide X-Linked likely dominant** Although it is unknown whether it is dominant or recessive

Answer 1274

* **learning difficulties** * Causing a delay in speech and language mainly * **large** low set ears, * **long** thin face, * **high** arched palate, * **Large** testicles (macroorchidism) * hypotonia * Hypermobility * autism is more common * mitral valve prolapse

Answer 1275

**Male Carrier** * Uncoordinated Movement - FXTAS **Female Carrier:** * Primary Ovarian Insufficiency

Answer 1276

* Autism Spectrum Disorder (ASD) * Down Syndrome * Turner Syndrome

Answer 1277

* **Antenatally with CVS or amniocentesis** * **Postnatally** with Genetic testing that detects the number of CGG repeats in the FMR1 gene. using **restrictuion endonuclease digestion and southern blot analysis**

Answer 1278

Its caused by a mutation of the FMR1 gene located on the X chromosome. This causes CGG repeat trinucleotide expansion; so that patients can have over 200 repeats of CGG (whereas normally there's only around 5-44). This large number of repeats disrupts the production of Fragile X Mental Retardation Protein (FMRP), which is crucial for normal neural development.

Answer 1279

Management requires a multidisciplinary approach. This might include: * Behavioural therapy to help manage social anxiety and autistic spectrum features. * Speech and language therapy for communication difficulties. * Educational support to address learning disabilities. * Medical management as required for any physical complications, including macroorchidism. * Manage autism and ADHD and treat seizures if they occur. Life expectancy is usually normal depending on associated disabilities and complications.

Answer 1280

Cystic fibrosis is a progressive, autosomal recessive genetic condition that affects the mucus glands. This causes persistent lung infections and limits the ability to breathe over time.

Answer 1281

It's caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory (CFTR) gene on chromosome 7. The CFTR gene codes for a type of chloride channel. So a mutation in this gene results in defects of chloride transport across cell membranes, causing mucous secretions in different systems to be very thick. There are many variants of this mutation, the most common is the delta-F508 mutation. This results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

Answer 1282

As the child doesn't have the condition, the answer must be two in three

Answer 1283

Approximately **1 in 25 people** in the UK have a CFTR protein mutation. The probability of having a child with Cystic Fibrosis is 1/25 x 1/25 x 1/4 (autosomal recessive) = **1/2500** **If both parents carry the faulty gene**: * There's a 1/4 chance the child will have Cystic Fibrosis * There's a 1/2 chance the child will be a carrier but will not have Cystic Fibrosis * There's a 1/4 chance the child will neither have Cystic Fibrosis nor be a carrier

Answer 1284

* **Thick pancreatic and biliary secretions** that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract * **Low volume thick airway secretions** that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections * **Congenital bilateral absence of the vas deferens** in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility

Answer 1285

**In Neonates** * Meconium ileus - Where the baby doesn't pass the meconium (first stool; that's usually black and sticky) within the first 24 hrs. So that it gets stuck and obstructs the bowel causes abdominal distension and vomiting. It's diagnosed and treated with a gastrograffin enema. **In Infants - Older Children** * Very salty sweat * Failure to thrive * Chronic cough * Thick sputum production * **Recurrent respiratory tract infections** * Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes * Abdominal pain and bloating * **Pancreatitis** * Nasal polyps * Finger clubbing * Crackles and wheezes on auscultation * Abdominal distention * Delayed onset of puberty

Answer 1286

* Bronchiectasis * Asthma * Chronic Obstructive Pulmonary Disease (COPD) * Gastroesophageal Reflux Disease (GORD) * Coeliac Disease

Answer 1287

**Neonatal Screening** Newborn blood spot testing is performed on all children shortly after birth and picks up most cases. **Definitive Diagnosis** Sweat test - which measures the concentration of chloride that's excreted in sweat. **Others** Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Answer 1288

Raised blood immunoreactive trypsinogen

Answer 1289

Chloride Concentration - **more than 60mmol/l**

Answer 1290

* **Chest physiotherapy** several times a day is essential to clear mucus and reduce the risk of infection and colonisation * Exercise improves respiratory function and reserve, and helps clear sputum * **High calorie diet** is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy * **CREON tablets** to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) * **Prophylactic flucloxacillin** tablets to reduce the risk of bacterial infections (particularly staph aureus) * Treat chest infections when they occur * **Bronchodilators** such as salbutamol inhalers can help treat bronchoconstriction * **Nebulised DNase** (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear * **Nebulised hypertonic saline** * **Vaccinations** including pneumococcal, influenza and varicella * **Lung transplantation** is an option in end stage respiratory failure * **Liver transplant** in liver failure * **Fertility treatment** involving testicular sperm extraction for infertile males * Genetic counselling

Answer 1291

* Colonisation of their lungs by bacteria (by checking their sputum) -> Particularly Staph Aureus and Pseudomonas * Diabetes * Osteoporosis * Vitamin D deficiency * Liver failure

Answer 1292

Median life expectancy is 47 years * 90% of patients with CF develop pancreatic insufficiency * 50% of adults with CF develop cystic fibrosis-related diabetes and require treatment with insulin * 30% of adults with CF develop liver disease * Most males are infertile due to absent vas deferens

Answer 1293

Muscular dystrophy refers to a group of inherited genetic disorders characterized by the progressive degeneration and weakening of the body's muscles. The disease is categorized into various types, the most common being **Duchenne muscular dystrophy (DMD)** and **Becker muscular dystrophy**, distinguished primarily by the severity and onset age.

Answer 1294

X-Linked Recessive Thus males are affected and females can be carriers

Answer 1295

Both Duchenne and Becker's muscular dystrophy result from **mutations in the dystrophin gene**, leading to reduced expression of dystrophin (a crucial protein involved in muscle contraction and stability). * In Duchenne's, the protein is virtually absent and has a **Frameshift** * In Becker's, the protein is expressed at lower levels or the protein is dysfunctional.

Answer 1296

* Presents in early childhood with progressive muscle wasting and weakness **around 5 years old** * Children usually become wheelchair-bound before puberty and often succumb to respiratory failure by their early twenties * **Calf pseudohypertrophy** as degenerated muscle is replaced by fat * **Gower's manoeuvre** and difficulty in lifting the child due to proximal muscle weakness

Answer 1297

* Presents later in childhood with muscle wasting and weakness * Patients commonly become wheelchair-bound in their teens and can survive into their thirties So is **less severe than Duchene's**

Answer 1298

* **Limb-Girdle Muscular Dystrophy** Characterized by weakness and wasting of the proximal muscles, specifically around the hips and shoulders. This condition can be distinguished from Duchenne's and Becker's by its autosomal inheritance pattern and later onset. * **Myotonic Dystrophy** * **Spinal Muscular Atrophy** Presents with muscle weakness and atrophy, but is characterized by anterior horn cell degeneration rather than a deficiency in dystrophin. * **Myopathies** A broad range of disorders causing muscle weakness, but they are typically non-progressive and not associated with muscle degeneration.

Answer 1299

Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are: * Progressive muscle weakness * Prolonged muscle contractions * Cataracts * Cardiac arrhythmias **Prolonged muscle contractions presents as a patient who shakes hand and struggles to let go**

Answer 1300

* **Genetic Testing** is the gold standard for diagnosing both Duchene's and Becker's * **Elevated Creatine Kinase** can be used as a first line screening tool * Muscle biopsy used to be used to confirm the diagnosis. But this is rarely done anymore due to genetic testing.

Answer 1301

Muscular dystrophies require comprehensive and multidisciplinary management to maximize quality of life and disease progression. Including: * Medical management with **glucocorticoids** to slow muscle degeneration * **Physical therapy** to maintain mobility * **Supportive care** to address respiratory and cardiac complications. * **Genetic counselling** should be offered to families with affected individuals, as these conditions are inherited.

Answer 1302

Angelman syndrome is a genetic condition caused by loss of function of the UBE3A gene on chromosome 15, specifically the copy of the gene that is inherited from the mother. This means that only the gene inherited from the father is expressed.

Answer 1303

Prader-Willi Syndrome is a genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father. This means that only the gene inherited from the mother is expressed.

Answer 1304

These 2 conditions arise due to alterations involving the **15q11-q13 region (UBE3A gene) of chromosome 15**. The condition can be caused by several mechanisms, including: * Deletion of the paternal copy of an allele (Prader-Willi) * Deletion of the maternal copy of an allele (Angelman's) * Uniparental disomy, where the individual inherits two copies from one parent (the mother in Prader-Willi) (the father in Angelman's and none from the other (the father in Prader-Willi) (the mother in Angelman's).

Answer 1305

* **Fascination with water** * **Happy demeanour** * **Wide mouth with widely spaced teeth** * Delayed development and learning disability * Severe delay or absence of speech development * Coordination and balance problems (ataxia) * Inappropriate laughter * Hand flapping * Abnormal sleep patterns * Epilepsy * Attention-deficit hyperactivity disorder * Dysmorphic features * Microcephaly * Fair skin, light hair and blue eyes

Answer 1306

* **Constant insatiable hunger that leads to obesity** * Poor muscle tone as an infant (hypotonia) * Mild-moderate learning disability * Hypogonadism and infertility * Mental health problems, particularly anxiety * **Dysmorphic features** * Narrow forehead * Almond shaped eyes * Strabismus * Thin upper lip * Downturned mouth

Answer 1307

**Genetic Testing** which can detect the typical chromosomal abnormalities associated with the conditions.

Answer 1308

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and carers holistically. * Parental education * Social services and support * Educational support * Physiotherapy * Occupational therapy * Psychology * CAMHS * Anti-epileptic medication where required

Answer 1309

**Carefully limiting access to food** **Supplementary Growth Hormone** aimed at improving muscle development and body composition. Management involves supportive care from an MDT involving: * **Dieticians** play a very important role * Education support * Social workers * Psychologists or psychiatrists * Physiotherapists * Occupational therapists

Answer 1310

* **Bardet-Biedl Syndrome** Characterized by obesity, learning disabilities, and kidney abnormalities. With additional signs such as rod-cone dystrophy, polydactyly, and hypogonadism. * **Cohen Syndrome** Present with obesity, intellectual disability, and developmental delay. Other distinguishing symptoms include microcephaly, eye abnormalities (particularly retinal dystrophy), joint hypermobility, and neutropenia.

Answer 1311

Noonan's syndrome is a **Autosomal Dominant** genetic condition **phenotypically similar to Turner's syndrome but with a normal genotype (46 XY/46 XX).** It is associated with a gene deletion on **chromosome 12 (PTPN11) in 50% of cases**. And in the majority of cases, is inherited in an autosomal dominant way.

Answer 1312

**Features similar to Tuner's Syndrome** * Webbed neck * Wide-spaced nipples * Short Stature **Characteristic clinical features:** * **cardiac: pulmonary valve stenosis** * **Hypertelorism** (Wide spaced eyes) * ptosis * triangular-shaped face * low-set ears * **coagulation problems: factor XI deficiency**

Answer 1313

* **Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD** * Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women. * Learning disability * Bleeding disorders (**Factor XI deficiency**) * Lymphoedema * Increased risk of leukaemia and neuroblastoma

Answer 1314

There is no treatment for the underlying genetic defect. Management is supportive with involvement of the multidisciplinary team. The main complication is congenital heart disease and often patients will require corrective heart surgery.

Answer 1315

William's syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7

Answer 1316

* **Very sociable trusting personality** * No fear of strangers * **Starburst eyes (a star-like pattern on the iris)** * elfin-like facies * characteristic like affect - very friendly and social * learning difficulties * short stature

Answer 1317

* **Supravalvular aortic stenosis** (narrowing just above the aortic valve) * **Hypercalcaemia** * Attention-deficit hyperactivity disorder * Hypertension

Answer 1318

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and family. * **Echocardiograms and blood pressure monitoring** are important to assess for aortic stenosis and hypertension. * **A low calcium diet** may be required to control hypercalcaemia, and they should **avoid calcium and vitamin D supplements**.

Answer 1319

* **Patau:** Small head, eyes, shit lip, multiple (13) fingers. * **Edwards:** Small jaw hence low ears, rocker bottom feet, overlapping finger * **Downs:** Hypotonic, short, learning dis, epicanthic folds. * **Noonan's:** Male turners plus aortic stenosis and pes excavatum * **Williams:** no fear of strangers, trusting, friendly, Supravalvular stenosis * **Prader willi:** Obesity, Hypotonia, Hypogonadism * **Angelmans:** Very happy, obsessed with water, learning dis * **Pierre Robins:** Micrognathia, posterior tongue displacement, cleft palate * **Fragile X:** Learning dis, Large head, ears, testes, thin face * **Cri du Chat:** microcephaly, micrognathia, small larynx causing annoying cry

Answer 1320

**Brittle Bone Disease** Osteogenesis imperfecta is an **Autosomal Dominant** genetic condition that results in brittle bones that are prone to fractures. It is caused by a range of genetic mutations that affect the formation of collagen.

Answer 1321

OI is primarily caused by **mutations in the COL1A1 and COL1A2 genes**, which code for the alpha chains of type I collagen. These mutations can lead to either a decrease in the amount of collagen produced or the formation of structurally abnormal collagen molecules, thereby increasing bone fragility.

Answer 1322

**BITE** * **B**ones fracture (to minor trauma) * **I**(eye) blue sclera * **T**eeth imperfections * **E**ar hearing loss (due to otosclerosis)

Answer 1323

* **Ehlers-Danlos Syndrome** Joint hypermobility, skin hyperextensibility, and tissue fragility * **Rickets** Bowing of legs, delayed growth, and bone pain or tenderness * **Non-accidental Injury** Unexplained fractures, suspicious injury patterns, inconsistent history

Answer 1324

**clinical diagnosis of exclusion** * Adjusted Ca, Phosphate, PTH and ALP are **normal** in osteogenesis **Genetic testing for mutations in the COL1A1 and COL1A2 genes would be diagnostic, but it isn't routinely done.**

Answer 1325

There isn't a cure for the genetic condition. **Medical management**: * Bisphosphates to increase bone density * Vitamin D supplementation to prevent deficiency **Other Management** * Orthopedic surgery interventions: For the treatment of fractures and correction of bone deformities * Physiotherpy and Occupational therapy to improve mobility and muscle strength * Dental care: to reduce the risk of dentinogenesis imperfecta * **Hearing aids:** In cases of sensorineural hearing loss * Education and Counselling

Answer 1326

Rickets is a paediatric skeletal disorder that describes **inadequately mineralised bone in developing and growing bones** Caused by a deficiency or impaired metabolism of vitamin D, calcium, or phosphate.

Answer 1327

Its less prevalent in developed countries due to improved nutritional awareness and public health measures, it remains common in some regions of Asia and Africa. * In Asia - lack of sunlight and vegetarian diets low in meat. * In Africa - darker skin pigmentation, which reduces vitamin D synthesis upon sunlight exposure.

Answer 1328

The primary cause of rickets is a **prolonged deficiency in calcium or vitamin D**. Vit D vitamin is crucial for the absorption of calcium and phosphorus from food in the intestines. This can be caused by: * Poor nutrition * Insufficient sun exposure, which aids in vitamin D synthesis * Malabsorption syndromes in which the intestines do not adequately absorb vitamins

Answer 1329

**Hereditary Hypophosphataemic Rickets** * X-linked dominant condition

Answer 1330

* Inadequate vitamin D leads to a lack of absorption of calcium and phosphate from the intestines in to the blood. * Calcium and phosphate are required for the construction of bone * Low levels result in defective bone mineralisation. * Low calcium levels result in secondary hyperparathyroidism * Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

Answer 1331

* Darker skin * Low exposure to sunlight * Spend alot of time indoors * Live in colder climates * Breastfed babies are at a higher risk (as formula milk is fortified with Vit D)

Answer 1332

**General Symptoms**: * Bone pain * Poor growth * Dental problems * Muscle weakness * Pathological or abnormal fractures **Bone Deformities** that can occur: R – Rosary beads (Costochondral swelling): Swellings at the junctions of the ribs and cartilage, known as the "rachitic rosary." I – Impaired growth: Delayed growth and short stature. C – Craniotabes: Soft skull bones, with a "ping-pong ball" feel in infants. K – Kyphoscoliosis: Curved spine and other skeletal deformities. E – Epiphyseal widening: Widened and irregular growth plates, especially visible at the wrists and knees. T – Tetany (muscle cramps and spasms): Due to low calcium levels. S – Soft bones (leading to bowing of the legs): Bowed legs (genu varum) or knock knees (genu valgum).

Answer 1333

* **Osteomalacia** Presenting with bone pain, muscle weakness, and increased fracture risk, but typically seen in adults. * **Hypophosphatasia** Characterised by bone pain, dental issues, and muscle weakness, but often associated with low levels of alkaline phosphatase. * **Osteogenesis imperfecta** Exhibits bone fragility and fractures, but also characterised by blue sclera and hearing loss.

Answer 1334

* **Serum 25-hydroxyvitamin D** (is the lab test for Vit D) - < 25nmol/L diagnoses a deficiency which can lead to rickets * * **XRay** showing radioleucency is required to diagnose rickets Other tests may include: * Serum calcium may be low * Serum phosphate may be low * Serum alkaline phosphatase may be high * Parathyroid hormone may be high

Answer 1335

Prevention is the best management, and NICE reccomends all breastfeeding women and children should take a Vit D supplement. * Supplementation: Vitamin D, calcium, and phosphorus supplements are commonly prescribed. * Vit D deficiency is treated with **Ergocalciferol** * Diet and Lifestyle Modifications: Ensuring adequate sun exposure and a diet rich in vitamin D, calcium, and phosphorus. * Orthopaedic intervention: In severe cases with significant bone deformities, orthopaedic surgery may be required.

Answer 1336

400 IU (10 micrograms) per day for children and young people

Answer 1337

6,000 IU per day for 8 – 12 weeks.

Answer 1338

Transient synovitis is a self-limiting condition characterised by the temporary inflammation of the synovial lining of the hip joint. This condition often results in a limp in affected children.

Answer 1339

* Commonest cause of hip pain in children * Mainly affects children between 3-11 years * Twice as common in Males

Answer 1340

Transient synovitis typically occurs following a viral infection, particularly upper respiratory tract infections. These infections usually occur 1-2 weeks prior to the onset of the distinctive pain and limp associated with transient synovitis.

Answer 1341

**Recent viral infection** * Pain in either the hip or knee (reffered hip pain). * An acute onset limp/refusal to weight bear * Accompanied by a low grade fever * Symptoms often <72 hours **High grade fever is a red flag sign for septic arthritis**

Answer 1342

* **Septic Arthritis** High fever, severe joint pain, decreased range of motion, warmth and redness over the joint, and leukocytosis on blood work. * **Osteomyelitis** Fever, localized bone pain, swelling, redness, and warmth over the involved bone, and elevated inflammatory markers.

Answer 1343

Clinical diagnosis for: **Children aged 3-9, afebrile, mobile with a limp present for < 72 hrs can be managed in primary care with safety net adice to attend A&E if Sx worsen** Investigations may be done to exclude septic arthritis: * **Blood tests**: Raised white blood cell counts and inflammatory markers may suggest septic arthritis (and not transient synovitis) * **Imaging**: An ultrasound of the joint may show effusion. X-rays may be normal in either condition. * **Joint Aspirate**: If there is still uncertainty after other investigations, or if septic arthritis is strongly suspected, a joint aspirate under ultrasound guidance should be taken. Bacteria within the joint space would confirm septic arthritis.

Answer 1344

Management primarily involves supportive treatement which can involve: * Rest * Analgaesics * Physiotherapy The condition usually resolves in about 7 days with with minimal risk of long-term damage to the joint.

Answer 1345

Osteomyelitis is a serious medical condition characterized by the bacterial or fungal infection of the bone and bone marrow. Typically occurs in the metaphysis of the long bones

Answer 1346

More common in Males Most common in children under 10

Answer 1347

* Males under 10 * Open bone fracture * Orthopaedic surgery * Immunocompromised * Sickle cell anaemia * HIV * Tuberculosis * Diabetes * Peripheral Vascular Disease

Answer 1348

* Staphylococcus aureus * Coagulase-negative staphylococci **Salmonella species in patients with sickle cell anaemia**

Answer 1349

* **Seeding from a hematogenous infection**, (a scenario commonly seen in children) * Spread from adjacent soft tissues or joints * Direct inoculation of infection into bone due to wound contamination following trauma or surgery

Answer 1350

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features **Acute Infection** * High grade Fever * Pain * Refusing to use the limb or weight bear * Swelling * Erythema at the affected site **Chronic Infection** * Persistent pain over an extended period * Continuously draining sinus tract or wound * Soft tissue damage Risk factors like diabetes and peripheral vascular disease increase the likelihood of chronic infection.

Answer 1351

* **Septic arthritis** * **Cellulitis** Presents with erythema, swelling, warmth, and tenderness of the affected area, often accompanied by fever and chills * **Ewing's sarcoma** Characterized by bone pain, swelling, and occasionally systemic symptoms such as fever and weight loss * **Gout** Acute episodes of severe joint pain, redness, and swelling, often affecting the big toe

Answer 1352

A definitive diagnosis requires a bone biopsy for pathology and culture. Others include: * **X-rays: First line investigation**; useful in chronic osteomyelitis diagnosis but may be negative early in the disease process * **MRI:** Optimal for bone and soft tissue visualization and is the **imaging modality of choice** * **Bone biopsy/bone marrow aspiration and culture is difinitive diagnostic modality** * Bloods and blood cultures, inflammatory markers (CRP, ESR) and white blood cells will be raised

Answer 1353

Treatment requires extensive and **prolonged antibiotic therapy minimum of 4-6 weeks**, and at least 12 - 6 months for chronic osteomyelitis * Initial Therapy: Flucloxacillin plus fusidic acid/rifampicin or Vancomycin (if MRSA is involved) * Clindamycin may be used for pencillin allergy * Antibiotic treatment begins intravenously and is switched to oral once the patient is stable, and/or 2 weeks post surgery. **Surgical drainage and debridement may be necessary**

Answer 1354

Septic arthritis, is a potentially life-threatening condition involving the direct infection of the synovial joint space. It's classed as an emergency, as the infection can quickly begin to destroy the joint and cause serious systemic illness.

Answer 1355

Most common in children under 4 years (but can occur at any age

Answer 1356

* Immunosupression * Invasive surgical procedures * Trauma to the joint * Pre-existing joint disease

Answer 1357

Most commonly caused by bacteria: * **Staph auereus** (Most common) * Neisseria gonorrhoea (gonococcus) in sexually active teenagers * Group A streptococcus (Streptococcus pyogenes) * Haemophilus influenza * Escherichia coli (E. coli) It can also be caused by fungi and viruses, but this is less common.

Answer 1358

Pathogens can reach the joint: * Hematogenously (through the blood) * From a contiguous site of infection * Through direct inoculation, such as during trauma or surgery.

Answer 1359

Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of: * Hot, red, swollen and painful joint * Refusing to weight bear * Very minimal movement of the joint * Systemic symptoms such as **high fever**, lethargy and sepsis

Answer 1360

* Osteomyelitis * Transient sinovitis * Reactive Arthritis * Gout * Rheumatoid arthritis

Answer 1361

* **Joint aspiration:** for culture, Gram staining and crystal microscopy. * Raised inflammatory markers * Blood cultures **Imaging may be done** X-ray may show joint space widening or effusion, while MRI or ultrasound can provide more detailed images of the joint and surrounding tissues

Answer 1362

**Kocher criteria** for the diagnosis of septic arthritis: **WIFE** * Wite Cell count raised >12 * Inability to weight bear * Fever > 38.5 * ESR raised

Answer 1363

Septic arthritis requires urgent management, consisting of: * **Surgical drainage and washout**: Either by arthroscopy or open surgery, to remove the infected synovial fluid * **Antimicrobial therapy (3-6 weeks)**: Empiric antibiotics are initiated urgently, then tailored based on the pathogen identified and its antibiotic sensitivity pattern. Its initially given IV, then followed by oral antibiotics. * Early diagnosis and treatment are crucial to prevent joint destruction and other potential complications of septic arthritis.

Answer 1364

Perthes disease is a degenerative condition due to avascular necrosis of the femoral head (epiphysis). This condition arises due to disruption in blood flow to the femoral head, which subsequently leads to ischemia and necrosis.

Answer 1365

* More common in **Males (5:1 ratio)** * It occurs in children aged **4 – 12 years**, but mostly between 5 – 8 years.

Answer 1366

Mechanical stress leads to disrupted blood supply to the epiphysis leading to avascular necrosis However the exact cause of the avascular necrosis is unknown. So it's described as **Idiopathic**. Over time there is **revascularisation or neovascularisation** and healing of the femoral head; and there's remodelling of the bone as it heals. This however can result in a soft and deformed femoral head, leading to early hip osteoarthritis.

Answer 1367

Male aged 4-12 presenting with **slow onset** of: * Pain in the hip or groin, that can be refered to the knee * Limp * Restricted hip movements There is **no history of trauma** Pain persisting for greater than 4 weeks raises the suspicion of Perthes.

Answer 1368

* **Transient synovitis** Presents with hip pain and a limp, but typically resolves within 2 weeks. * **Septic arthritis** Characterised by acute onset of severe hip pain, fever, and inability to bear weight. * **Slipped capital femoral epiphysis (SCFE)** Presents in older, often overweight children, with knee pain, limping, and decreased hip motion. * **Juvenile idiopathic arthritis (JIA)** Presents with chronic joint pain and swelling, morning stiffness, and possible systemic features.

Answer 1369

Diagnostic test is a **hip X-ray** * **Sclerosis and fragmentation of the epiphysis** In some cases, initial X-rays may appear normal, necessitating a repeat X-ray if clinical suspicion persists **Technetium bone scan or MRI** used second line if normal x-ray but symptoms persist

Answer 1370

**Less than 6 years old** * Observation and Conservative management * Regular X-rays to monitor disease * Maintain healthy position and joint alignment * **Rest, pain management (NSAIDs) and physiotherapy** **Older Children** * **Abduction Braces or Casts for traction** * Surgery

Answer 1371

**Catterall staging** * Stage 1: Clinical and histological features only * Stage 2: Sclerosis with or without cystic changes and preservation of the articular surface * Stage 3: Loss of structural integrity of the femoral head * Stage 4: Loss of acetabular integrity

Answer 1372

* Osteoarthritis of the hip * Premature fusion of the growth plates

Answer 1373

A discoid meniscus is a **thicker than normal and abnormally shaped meniscus in the knee** Its disc shaped and usually affects the **lateral meniscus**. It is more likely to get stuck in the knee or tear.

Answer 1374

* **Incomplete**: the lateral meniscus is a bit thicker and wider than a normal meniscus * **Complete**: the tibia is completely covered by the meniscus * **Hypermobile Wrisberg**: the meniscus is not abnormal in shape but there is no posterior attachment to the tibia. This results in a hypermobile meniscus

Answer 1375

It is **asymptomatic** in alot of cases, and people may never experience problems. Its primary presentation is: **a visible or audible palpable snap on terminal extension (10-20°) along with pain swelling and locking**. There may also be an **annoying click during movement**

Answer 1376

Meniscal tear

Answer 1377

**MRI of the knee** It can show the abnormal shape of the discoid meniscus, as well as tears within the meniscus.

Answer 1378

An **arthroscopic partial meniscectomy** is the treatment of choice for symptomatic stable, complete, or incomplete discoid meniscus. (**alongside Physiotherapy**) Asymptomatic patients should not recieve surgery, but should be followed up with periodically to check for deterioration.

Answer 1379

Also known as slipped capital femoral epiphysis (SCFE). * It is where the **head of the femur is displaced (“slips”) along the growth plate**. * Caused by proximal femoral **growth plate's weakness** * Enables displacement of the femoral head epiphysis **postero-inferiorly**

Answer 1380

* More common in **Males (80% of cases)** * Typically presents aged 8 – 15 years. * Classically seen in **Obese children**

Answer 1381

* Male Adolescants * **Obesity** * Endocrine disorders, like hypothyroidism and hypogonadism * Afro-Caribbean and Hispanic populations

Answer 1382

Typical exam presentation is an **adolescent, obese male undergoing a growth spurt**. There may be a history of minor trauma but **suspect SUFE if the pain is disproportionate to the severity of the trauma**. * hip, groin, medial thigh or knee pain loss of **internal rotation** of the leg **in flexion** bilateral slip in 20% of cases * Painful limp * Positive Trandeleburg gait

Answer 1383

* Osteoarthritis * Hip fracture * Legg-Calvé-Perthes disease * Hip bursitis * Septic arthritis

Answer 1384

**Anterolateral and frog-leg X-rays** are first line and diagnostic These can reveal characteristic features such as a **shortened, displaced epiphysis and a widened growth plate** Other tests to rule out DDx: * Blood tests (normal inflammatory markers) * Technetium bone scan * CT and MRI scan

Answer 1385

The mainstay of management is: **Internal fixation Surgery** to return the femoral head to the correct position and fix it in place (usually with a screw) to prevent it slipping further.

Answer 1386

**Tibial Apophysitis** a self-limited condition characterized by **inflammation and stress-induced injury of the tibial tuberosity at the insertion point of the patellar tendon** Usually affects adolescents and is associated **with high levels of physical activity.**

Answer 1387

**Growth Spurts:** make the tibial tuberosity's growth plate more vulnerable to stress. **Repetitive Stress:** Activities like running and jumping cause repetitive pulling of the patellar tendon on the tibial tuberosity, leading to microtrauma. **Inflammation and Micro-avulsion fractures:** Patella tendon pulls away these pieces of bone causing pain and swelling. **Bone Growth:** The body responds by forming new bone, potentially leading to a bony prominence, which typically resolves as growth plates close. **Permenant hard bony lump** is left at the tibial tuberosity

Answer 1388

* More common in males * Typically occurs in patients aged 10-15 * Higher prevalence in athletes, particularly those involved in sports such as running, football, basketball, gymnastics, and ballet.

Answer 1389

**Gradual onset** of symptoms: * Visible or palpable hard and tender lump at the tibial tuberosity * Pain in the **anterior aspect of the knee** * The pain is exacerbated by physical activity, **kneeling and on extension of the knee** And improved with rest

Answer 1390

* **Patellofemoral pain syndrome** characterized by diffuse anterior knee pain, often exacerbated by prolonged sitting or activities such as stair climbing. * **Sinding-Larsen-Johansson syndrome** presents with pain at the lower pole of the patella, rather than the tibial tuberosity. * **Tibial tubercle fractures** typically present with acute, severe pain and inability to bear weight, often following a traumatic incident. * **Prepatellar bursitis** presents with swelling and tenderness directly over the front of the patella, not the tibial tuberosity.

Answer 1391

* Diagnosis is primarily clinical, based on the characteristic signs and symptoms. * However, imaging studies (X-ray, ultrasound, or MRI) can be used to confirm the diagnosis and rule out other conditions.

Answer 1392

**Supportive care** * Reduction in physical activity * Ice * NSAIDs for short term symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function. In severe cases temporary immobilization with a knee brace or cast may be necessary.

Answer 1393

Developmental dysplasia of the hip (DDH) is a congenital abnormality of the hip joint leading to **easy dislocation** * The ball of the femur (femoral head) and the socket of the pelvis (acetabulum) do not articulate appropriately.

Answer 1394

The 6 Fs: * **Female**: The condition is more prevalent in females. * **Firstborn**: Firstborn children have a higher risk. * **Family history**: DDH often runs in families. * **Frank breech presentation** (previously referred to as 'Fanny first'): Babies presenting buttocks or feet first in the womb have a higher risk. * **Fluid**: Low amniotic fluid levels (oligohydramnios) can increase the risk. * **Fetuses** Multiple pregnancy is more likely to cause DDH in at least one of the fetuses

Answer 1395

**Typically found on the NIPE**: * Different leg lengths * Restricted hip abduction on one side * Significant bilateral restriction in abduction * Difference in the knee level when the hips are flexed * Clunking of the hips on special tests * Hip creases at different levels

Answer 1396

Its caused by **abnormal development of the fetal bones** during pregnancy. This leads to **instability in the hips** and a tendency for **subluxation or dislocation.** **Caused by mechanical pressures (reduced space in uterus) and genetic predisposition**

Answer 1397

**Barlow test** * Is done with the baby on their back with the hips adducted and flexed at 90 degrees and knees bent at 90 degrees. * Gentle downward pressure is placed on knees through femur to see if the femoral head will **dislocate posteriorly**. **Ortolani test** * Is done with the baby on their back with their hips and knees flexed. * Palms are placed on the baby’s knees with thumbs on the inner thigh and four fingers on the outer thigh. * Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will **Relocate after Barlow/Dislocate anteriorly**.

Answer 1398

* Transient synovitis * Septic arthritis * Legg-Calve-Perthes disease * Slipped capital femoral epiphysis (SCFE)

Answer 1399

DDH is screened for on the neonatal examination at birth and 6-8 week old. * Barlow (tests for posterior dislocation) and Ortolani (tests for relocation on hip abduction) manoeuvres are primary screening tools. **Imaging:** * **Ultrasound** is used to confirm the diagnosis if clinically suspected however, * if the **infant is > 4.5 months** then **x-ray** is the first line investigation

Answer 1400

* **Pavlik harness** if the baby presents at **less than 6 months of age.** * **Surgery** is required when the harness fails or the diagnosis is made after 6 months of age. The Pavlik harness's holds the femoral head in the correct position. This harness keeps the baby’s hips flexed and abducted. The harness is removed when their hips are more stable, usually after 6 – 8 weeks.

Answer 1401

Juvenile idiopathic arthritis (JIA) refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. It is diagnosed where there is **arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16**. There are a number of different subtypes

Answer 1402

* Still's Disease/Systemic JIA * Polyarticular JIA * Oligoarticular JIA * Enthesitis related arthritis * Juvenile psoriatic arthritis

Answer 1403

JIA represents the most common cause of chronic joint pain in the paediatric population. **Patients must be younger than 16 to be diagnosed**

Answer 1404

Also known as **Still's Disease**; its a systemic illness (and an idiopathic inflammatory condition) that presents with: * **Swinging pyrexia** * **salmon-pink rash** * lymphadenopathy * arthritis and joint pain * uveitis * anorexia and weight loss

Answer 1405

* Negative Antinuclear antibodies and rheumatoid factors * Raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin.

Answer 1406

**Macrophage activation syndrome (MAS)** Where there is severe activation of the immune system with a massive inflammatory response. It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. Key investigation finding: **Low ESR**

Answer 1407

Rheumatoid Arthritis However children remain negative from Rheumatoid factor (Seronegative)

Answer 1408

* **inflammatory arthritis in 5 joints or more**. * **symmetrical** * can affect the small joints and large joints * **minimal systemic symptoms**, but there can be mild fever, anaemia and reduced growth.

Answer 1409

**Also knowns as pauciarticular JIA.** * **4 joints or less** * Usually only affects **a single joint** * Tends to affect the larger joints, often the knee or ankle. * **no systemic symptoms** **Often associated with anterior uveitis** Requiring referral to Ophthalmology

Answer 1410

Most common in Females under 6 years

Answer 1411

* inflammatory makers will be normal or mildly elevated * **Antinuclear antibodies are often positive** * Rheumatoid factor is usually negative

Answer 1412

**Paediatric version of the adult seronegative spondyloarthropathies** * Inflammation of both the joints and enthesitis (inflammation of their entheses when tendons attatch to bone). **Most patients have the HLA-B27 gene** **Often have other symptoms such as:** * Psoriasis * IBD symptoms * Anterior uveitis

Answer 1413

It is the point at which the tendon of a muscle inserts into a bone

Answer 1414

More common in male children over 6 years.

Answer 1415

It is an seronegative inflammatory arthritis associated with psoriasis. It is associated with the following signs: * Plaques of psoriasis on the skin * Pitting of the nails (nail pitting) * Onycholysis (separation of the nail from the nail bed) * Dactylitis (inflammation of the full finger) * Enthesitis

Answer 1416

* Infections * Malignancy (Leukemia) * Lupus * Reactive arthritis

Answer 1417

It is primarily a **clinical diagnosis of exclusion** once other causes have been ruled out. But the following tests are useful: * **Blood tests**: Complete blood count, Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Antinuclear antibodies (ANA), Rheumatoid factor (RF) * **Imaging**: Ultrasound or MRI of affected joints may reveal synovial hypertrophy, effusion or bone erosion. * **Joint aspiration**: To rule out infection or malignancy.

Answer 1418

Management depends on the severity of symptoms, and can involve: * **NSAIDs**, such as ibuprofen (First Line) * **Steroids**, either oral, intramuscular or intra-artricular in oligoarthritis * **Disease modifying anti-rheumatic drugs (DMARDs)**, such as methotrexate, sulfasalazine and leflunomide * **Biologic therapy**, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab

Answer 1419

* **Anterior uveitis:** This can lead to visual impairment if not detected and treated early. **Requires Ophthalmology input** * Flexion contractures: May require physical therapy and splinting. * Joint destruction: May necessitate prostheses at a young age. * Growth failure: This can occur as a result of chronic disease and steroid use.

Answer 1420

Adolescent idiopathic scoliosis (AIS) is a structural spinal deformity characterised by decompensation of the normal vertebral alignment during rapid skeletal growth in otherwise healthy children.

Answer 1421

* Occurs in children older than 10 * More severe forms are more common in Females * Peak onset is during the adolescant growth spurt

Answer 1422

* Postural Asymmetry * Shoulder, waistline and breast/thoracic Asymmetry * Paraspinal prominences when bending forward * Little to no pain

Answer 1423

Standing AP (Anterior Posterior) Xray of the of the cervical, thoracic and lumbar spines.

Answer 1424

**less severe curvature** * Prevent progression of the spinal deformity until the patient reaches skeletal maturity * Once skeletal maturity is reached: * Observational Monitoring * Bracing **Severe cases of scoliosis** * Surgical spinal arthrodesis may be required

Answer 1425

Congenital muscular torticollis (CMT) is a neck deformity that involves shortening of the sternocleidomastoid (SCM) muscle resulting in limited neck rotation and lateral flexion. This results in a head tilt to the affected side and rotation to the contralateral side.

Answer 1426

More common in Males

Answer 1427

More complicated births: * Twin Births * Breech deliveries * Deliveries requiring the use of forceps or the vaccum

Answer 1428

* Unilateral contraction of the SCM causing a **lateral flexion towards the affected side with slight rotation of the chin to the contralateral side**. * Reduced neck range of motion * palpable SCM mass * head position preference * plagiocephaly (Flat head on one side)

Answer 1429

Diagnosis is often done on clinical presentation; however imaging can be useful: * Ultrasound is the first line * Magnetic resonance imaging (MRI) may be used to rule out non-muscular causes

Answer 1430

First line treatment is **physiotherapy and aggressive repositioning** Helmet therapy may be considered for infants with moderate to severe and persisting asymmetry.

Answer 1431

**Hypoxia** Normal labour and birth leads to hypoxia. When contractions happen, the placenta is unable to carry out normal gaseous exchange, leading to hypoxia. Extended hypoxia will lead to anaerobic respiration and a subsequent drop in the fetal heart rate (bradycardia). Further hypoxia will lead to reduced consciousness and a drop in respiratory effort, in turn worsening hypoxia. Extended hypoxia to the brain leads to **hypoxic-ischaemic encephalopathy (HIE)**, with potentially life-long consequences in the form of cerebral palsy.

Answer 1432

* Babies have a large surface area to weight ratio, and get cold very easily * Babies are born wet, so they loose heat rapidly * Babies that are born through meconium may have this in their mouth or airway

Answer 1433

* **Warm The Baby** * **Calculate the APGAR Score** * **Stimulate Breathing** * **Inflation Breaths** * **Chest Compressions**

Answer 1434

* Get the baby dry as quickly as possible. Vigorous drying also helps stimulate breathing. * Keep the baby warm with warm delivery rooms and management under a heat lamp * Babies under 28 weeks are placed in a plastic bag while still wet and managed under a heat lamp

Answer 1435

**Appearance, Pulse, Grimace, Activity, Respiration** * This is done at 1, 5 and 10 minutes whilst resuscitation continues * This is used as an indicator of the progress over the first minutes after birth * It helps guide neonatal resuscitation efforts

Answer 1436

* Simulate the baby to prompt breathing, for example by drying vigorously with a towel * Place the baby’s head in a neutral position to keep airway open. A towel under the shoulders can help keep it neutral. * If gasping or unable to breath, check for airway obstruction (i.e. meconium) and consider aspiration under direct visualisation

Answer 1437

Inflation breaths are given when the neonate is gasping or not breathing despite adequate initial simulation. * Two cycles of five inflation breaths (lasting 3 seconds each) can be given to stimulate breathing and heart rate * If there is no response and the heart rate is low, 30 seconds of ventilation breaths can be used * If there is still no response, chest compressions can be used, coordinated with the ventilation breaths

Answer 1438

* Start chest compressions if **heart rate remains below 60 bpm** despite resuscitation and inflation breaths (see protocol) * Chest compressions are performed at a **3:1 ratio with ventilation breaths**

Answer 1439

Its measured out of 10

Answer 1440

At least one minute after birth

Answer 1441

After birth there is still a significant volume of fetal blood in the placenta. Delayed clamping of the umbilical cord provides time for this blood to enter the circulation of the baby. This is known as **placental transfusion**. It leads to: * improved haemoglobin * iron stores * blood pressure * reduction in intraventricular haemorrhage and necrotising enterocolitis.

Answer 1442

The only apparent negative effect is an increase in neonatal jaundice, potentially requiring more phototherapy.

Answer 1443

Neonates that require neonatal resuscitation should have their umbilical cord clamped sooner to prevent delays in getting the baby to the resuscitation team. The **priority is resuscitation rather than delayed clamping**.

Answer 1444

Surfactant production commences from around 26 weeks gestation, reaching sufficient levels only at about 35 weeks. This means premature infants (being born before 35 weeks) at an elevated risk of developing NRDS.

Answer 1445

Also known as **chronic lung disease of prematurity (CLDP)** It occurs in premature babies, typically those born before 28 weeks gestation. These babies suffer with **respiratory distress syndrome** and require oxygen therapy or intubation and ventilation at birth.

Answer 1446

diagnosis is made when there is evidence of Chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.

Answer 1447

* Low oxygen saturations past 36 weeks gestation * Increased work of breathing * Poor feeding and weight gain * Crackles and wheezes on chest auscultation * Increased susceptibility to infection

Answer 1448

**Before Birth**: * Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation. **After Birth** * Using Continuous positive airway pressure (CPAP) rather than intubation and ventilation when possible * Using caffeine to stimulate the respiratory effort * Not over-oxygenating with supplementary oxygen

Answer 1449

* A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management. * Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, (e.g. 0.01 litres per minute via nasal cannula). They're followed up to wean them off the oxygen level over the first year of life. * Babies require protection against respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis. This involves **monthly injections of a monoclonal antibody against the virus called palivizumab**

Answer 1450

Meconium is the inaugural feces passed by a newborn. Unlike subsequent stools, it has a thicker consistency and dark green hue. Typically, it is passed after delivery; but occasionally, it may be expelled prior to birth into the amniotic fluid, a condition known as **"meconium stained liquor".**

Answer 1451

It is triggered by the passage of meconium from the amniotic fluid into the fetal lungs, leading to blockage and inflammation of the airways. MAS carries significant risk of morbidity and mortality.

Answer 1452

**Respiratory distress in the immediate neonatal period** * Grunting and chest retractions * Ronchi * Crackles * Tachycardia and hypotension (due to respiartory distress)

Answer 1453

* **Hirschsprung Disease** Key signs include failure to pass meconium, abdominal distension, and vomiting. * **Neonatal Sepsis** This presents with unstable temperature, apnea, feeding difficulties, and lethargy. * **Intestinal Atresia** Signs include bilious vomiting, abdominal distension, and failure to pass stool.

Answer 1454

* Assessment of amniotic fluid for presence of meconium * Chest X-ray for evaluation of lungs

Answer 1455

Management strategies involve: * Immediate suctioning after birth * Oxygen therapy for respiratory support * Potentially antibiotics to prevent secondary bacterial infection.

Answer 1456

Hypoxic-ischaemic encephalopathy (HIE) is a condition characterized by brain damage resulting from antenatal or perinatal hypoxia.

Answer 1457

Anything that leads to asphyxia (deprivation of oxygen) to the brain can cause HIE, e.g: * **Maternal shock** * **Intrapartum haemorrhage** * **Prolapsed cord**, causing compression of the cord during birth * **Nuchal cord**, where the cord is wrapped around the neck of the baby

Answer 1458

* A lack of oxygen in the fetal circulation, which leads to an insufficient oxygen supply to the brain. * This ischemia culminates in irreversible brain damage, both from primary neuronal death (immediate) and secondary reperfusion injury (delayed). * This permanent brain damage can lead to cerebral palsy, and even death.

Answer 1459

Sarnat Staging

Answer 1460

**Mild**: * Poor feeding, generally irritability and hyper-alert * Resolves within 24 hours * Normal prognosis **Moderate** * Poor feeding, lethargic, hypotonic and seizures * Can take weeks to resolve * Up to 40% develop cerebral palsy **Severe** * Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes * Up to 50% mortality * Up to 90% develop cerebral palsy

Answer 1461

* **Meningitis** Fever, stiff neck, altered mental status, and seizures * **Metabolic disorders** Poor feeding, lethargy, seizures, vomiting, and respiratory distress * **Intracranial hemorrhage** Seizures, altered consciousness, apnea, and bulging fontanelle * **Drug withdrawal** Irritability, high-pitched cry, tremors, seizures, and poor feeding

Answer 1462

* **EEG monitoring**: To evaluate seizure activity and brain function * **Multiple MRI brain scans**: To assess the extent of brain injury and areas affected

Answer 1463

* **Respiratory support**: To ensure sufficient oxygen supply * **Anticonvulsant therapy**: To control seizures * **Careful fluid balance and electrolyte monitoring**: To prevent further complications * **Use of inotropes**: To support blood pressure and cardiac function * **Therapeutic Hypothermia**

Answer 1464

Is provided to babies who have HIE. * It involves actively cooling the core temperature of the baby according to a strict protocol. The baby is transferred to neonatal ICU and actively cooled using cooling blankets and a cooling hat, to try and get the core temp down to 33-34°C. * This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours. It's aim is to **reduce the inflammation and neurone loss after the acute hypoxic injury**. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.

Answer 1465

TORCH infections are a group of congenital infections that are passed from mother to the developing foetus or newborn at some time during pregnancy, during delivery, or after birth. It can be caused by any one of a group of infectious agents indicated in the acronym TORCH.

Answer 1466

* **T** - Toxoplasma gondii (Causes toxoplasmosis) * **O** - Other agents, such as Treponema pallidum, varicella zoster virus (VZV), parvovirus B19, and human immunodeficiency virus (HIV) * **R** - Rubella * **C** - Cytomegalovirus (CMV) * **H** - Herpes simplex virus (HSV)

Answer 1467

* Preterm birth * Delayed development of the fetus (i.e., intrauterine growth restriction) * Physical malformations (e.g., deafness, patent ductus arteriosus) * Loss of the pregnancy (either Miscarriage or Stillbirth)

Answer 1468

Cory (chorioretinitis) Big head (hydrocephalus) Stiff (spasticity) Calcium (cerebral calcifications) Jerky (seizures)

Answer 1469

Glaucoma Cataracts Sensorineural deafness Learning disabilities Patent Ductus Arteriosus

Answer 1470

The presentation of TORCH infections vary depending on the specific infection. But they share some common non-specific symptoms early on: * Fever * development of a small head (i.e., microcephaly) * low birth weight * lethargy or sleepiness * cataracts * hearing loss * congenital heart disease * hepatosplenomegaly (enlargement of the liver and spleen) * reddish-brown spots on their skin (i.e., petechiae or purpura) * yellowish pigmentation of the skin and eyes (i.e., jaundice) * "blueberry muffin" rash, which appears as bluish or purplish marks on the baby’s body. **Later signs include**: * vision impairment or loss * intellectual disability * deafness * seizures.

Answer 1471

Jaundice Periventricular Calcifications and Microcephaly Chorioretintis Purpuric skin (and Thrombocytopenia) Sensorineural deafness

Answer 1472

HSV usually infects a newborn during passage through the birth canal. In infants, HSV can cause: * Blisters * Inflammation of the brain, known as meningoencephalitis.

Answer 1473

**Miscarriage** - the loss of a pregnancy during the first 24 weeks. **Stillbirth** - loss of a pregnancy after 24 weeks of gestation.

Answer 1474

* **prenatal ultrasound** - can unusual fetal findings associated with a TORCH infection (e.g. ventriculomegaly, intracranial calcifications, and fetal growth restriction or retardation). * **Polymerase Chain Reaction** - Is diagnostic for congenital toxoplasmosis, congenital syphilis, and parvovirus B19 infection * CMV can be diagnosed by **viral culture, DNA detection on a PCR test, or by CMV-specific immunoglobulin M (IgM) antibody measurement** * Rubellla is diagnosed by **positive rubella-specific IgM testing**.

Answer 1475

**Pyrimethamine** (an antiparasitic medication) and **sulfadiazine** (an antibiotic). If it is suspected that a mother has toxoplasmosis in the early stages of the pregnancy, **spiramycin** (an antibiotic and antiparasitic) is given to prevent transmission to the fetus.

Answer 1476

Aggressive treatment with **Acyclovir**

Answer 1477

Antiviral medications, like **ganciclovir** Which can reduce the risk of hearing loss and facilitate head growth.

Answer 1478

Neonatal jaundice is a clinical condition that presents as a yellowing of a newborn's skin and eyes. It results from the accumulation of bilirubin, a by-product of the breakdown of red blood cells, in the body.

Answer 1479

**Physiologic Jaundice** Fetal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin. Normally this bilirubin is excreted via the placenta, however at birth the foetus no longer has access to a placenta to excrete bilirubin. This leads to a normal rise in bilirubin shortly after birth, causing a mild yellowing of skin and sclera from 2 – 7 days of age. This usually resolves completely by 10 days.

Answer 1480

Can be split into increased production of Bilirubin and Decreased clearence: **Increased Billirubin Production**: * Haemolytic disease of the newborn * ABO incompatibility * Haemorrhage * Intraventricular haemorrhage * Cephalo-haematoma * Polycythaemia * Sepsis and disseminated intravascular coagulation * G6PD deficiency **Decreased clearance of bilirubin**: * Prematurity * Breast milk jaundice * Neonatal cholestasis * Extrahepatic biliary atresia * Endocrine disorders (hypothyroid and hypopituitary) * Gilbert syndrome

Answer 1481

**Causes less than 24 hours**: * Haemolytic disorders (Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis) * Congenital infections (TORCH screen indicated) * Sepsis **Causes 24 hours - 14 days** * Physiologic jaundice * Breast milk jaundice * Dehydration * Infection, including sepsis * Haemolysis * Bruising * Polycythaemia * Crigler-Najjar Syndrome **Causes >14 days (>21 if preterm)** * Physiologic jaundice * Breast milk jaundice * Infection * Hypothyroidism * Biliary obstruction (including biliary atresia) * Neonatal hepatitis

Answer 1482

Jaundice is “prolonged” when it **lasts longer than would be expected in physiological jaundice**, that being: * More than 14 days in full term babies * More than 21 days in premature babies Prolonged jaundice should prompt further investigation

Answer 1483

* Yellowing of the skin and eyes * Poor feeding * Lethargy * In severe cases: **kernicterus** - a rare but serious complication of untreated jaundice. This results from excess bilirubin damaging the brain, particularly the basal ganglia.

Answer 1484

* **Haemolytic disorders** Yellow skin and eyes, pallor, splenomegaly * **Congenital infections** Fever, lethargy, poor feeding, rash * **Sepsis** Fever, lethargy, poor feeding, irritability * **Dehydration** Dry mouth, decreased urination, lethargy * **Bruising** Discoloration, swelling, tenderness * **Hypothyroidism** Prolonged jaundice, poor feeding, hypotonia, macroglossia, umbilical hernia * **Biliary obstruction (including biliary atresia)** Prolonged jaundice, clay-colored stools, dark urine * **Neonatal hepatitis** Prolonged jaundice, hepatomegaly

Answer 1485

* **Full blood count and blood film** (for polycythaemia or anaemia) * **Conjugated bilirubin** - elevated levels indicate a hepatobiliary cause * **Blood type testing of mother and baby** - for ABO or rhesus incompatibility * **Direct Coombs Test** - (direct antiglobulin test) for haemolysis * **Thyroid function** - for hypothyroidism * **Blood and urine cultures** - if infection is suspected. * **Glucose-6-phosphate-dehydrogenase (G6PD) levels** - for G6PD deficiency

Answer 1486

Total bilirubin levels are monitored and plotted on **treatment threshold charts**. These charts are specific for the gestational age of the baby at birth. The age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis. If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level.

Answer 1487

* **Phototherapy** is first line management. And this is usually adequate to correct neonatal jaundice. * Extremely high levels may require an **exchange transfusion**. This involves removing blood from the neonate and replacing it with donor blood.

Answer 1488

* Phototherapy **converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver**. * It involves removing clothing down to the nappy to expose the skin and eye patches to protect the eyes. Then a light-box shines blue light on the baby’s skin. (Little or no UV light is used). * Double phototherapy involves two light-boxes. Bilirubin is closely monitored during treatment. * Once phototherapy is complete, a rebound bilirubin should be measured 12 – 18 hours after stopping to ensure the levels do not rise about the treatment threshold again.

Answer 1489

Kernicterus is a **type of brain damage caused by excessive bilirubin levels**. It's the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.

Answer 1490

* Bilirubin is able to cross the blood-brain barrier. Once in the brain, the high bilirubin levels cause **direct irreversible damage** to the central nervous system. * This permanent brain damage can result in cerebral palsy, learning disability and deafness.

Answer 1491

It presents as a **less responsive, floppy, drowsy baby with poor feeding**.

Answer 1492

Necrotising enterocolitis (NEC) is a severe gastrointestinal disease that primarily affects premature infants. The condition is **characterised by necrosis (tissue death) of the intestine** due to ischaemia (lack of blood flow) and infection, leading to severe illness and sometimes perforation of the bowel.

Answer 1493

* It usually presents within the **first three weeks of life in premature neonates**. * But it can occasionally affect full-term infants as well. * It is fatal in 1/5 of cases

Answer 1494

* Very low birth weight or very premature * Formula feeds (it is **less common in babies fed by breast milk**) * Respiratory distress and assisted ventilation * Sepsis * Patient ductus arteriosus and other congenital heart disease

Answer 1495

* Intolerance to feeds * Vomiting (may be streaked with green bile) * Distended, tender abdomen * Absent bowel sounds * Blood in stools If perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Answer 1496

* **Sepsis** May present with systemic signs of illness, vomiting, poor feeding, and lethargy. * **Gastroenteritis** Presents with diarrhoea and vomiting, but usually without the severe abdominal distension seen in NEC. * **Intestinal malrotation with volvulus** Typically presents with bilious vomiting, abdominal pain and bloody stools. * **Hirschsprung's disease** Presents with abdominal distension, constipation, and failure to pass meconium within 48 hours of birth.

Answer 1497

**Blood Tests**: * Full blood count for thrombocytopenia and neutropenia * CRP for inflammation * Capillary blood gas will show a metabolic acidosis * Blood culture for sepsis **Diagnostic**: * Abdominal Xray (from the supine position). But additional views (lateral and lateral decubitus) may also be helpful.

Answer 1498

* Dilated loops of bowel * Bowel wall oedema (thickened bowel walls) * Gas in the portal veins * **Pneumatosis intestinalis** - is gas in the bowel wall and is a sign of NEC * **Pneumoperitoneum** - is free gas in the peritoneal cavity and indicates perforation

Answer 1499

**Medical Management**: * Nil by Mouth * IV Fluids * Total parenteral nutrition (TPN) * Broad spectrum antibiotics * A **nasogastric tube can be inserted** to drain fluid and gas from the stomach and intestines (**Gastric Decompression**) **Surgical Management**: * Necrotising enterocolitis is a surgical emergency and requires immediate referral to the neonatal surgical team. * Some neonates will recover with medical treatment. But In others, surgery may be required to **remove the dead bowel tissue**. * Babies may be left with a temporary stoma if significant bowel is removed.

Answer 1500

* **Perforation and peritonitis** * Sepsis * Death * Strictures * Abscess formation * Recurrence * Long term stoma * Short bowel syndrome after surgery

Answer 1501

* Encouraging breastfeeding in mothers of premature babies. * Delayed cord clamping at delivery.

Answer 1502

* It is a birth defect where a hole in the abdominal wall beside the belly button allows the **baby's intestines to extend outside of the baby's body**. * The hole can be small or large and sometimes other organs, such as the stomach and liver, can be found outside of the baby's body as well.

Answer 1503

**Simple Gastroschisis** * only the bowel is exposed * Not covered by peritoneum **Complicated Gastroschisis** * The bowel outside of the baby’s body is extremely damaged/ necrotic * Intestinal atresia * additional organs (liver/stomach)

Answer 1504

It is most commonly diagnosed by Prenatal ultrasound around weeks 18-20 of pregnancy.

Answer 1505

Vaginal delivery may be attempted **Definitive Treatment is Surgery (ideally within 4 hours)** * **Primary Repair** - This is done for simple gastroschisis and is where the bowel is placed back inside of the baby’s belly and the abdominal opening is closed. This is usually done the day the baby is born. * **Staged Repair** - Is usually done for complicated gastroschisis. In this case a plastic pouch or “silo” is placed around the bowel and attached to the belly. Every day the silo is tightened and some of the bowel is gently pushed inside. When all the bowel is inside, the silo is removed, and the belly is closed. This can last up to 2 weeks.

Answer 1506

A condition where the abdominal contents protrude through the abdominal wall via the belly button and are thus contained within a sac formed by the amniotic membrane and peritoneum

Answer 1507

**Caesarean Section to reduce the risk of sac rupture** * Staged Repair may be performed

Answer 1508

* Duodenal atresia is a congenital malformation characterized by the presence of a **blind-ending duodenum, which is not patent**. * This abnormality leads to an obstruction of the gastrointestinal tract.

Answer 1509

It occurs as a result of **failed recanalization of the embryonic duodenum** during the gestational period.

Answer 1510

Down's Syndrome Other intestinal atresias **VACTERL** association: * Vertebral defects * Anal atresia * Cardiac defects * Tracheo-esophageal fistula * Renal anomalies * Limb abnormalities

Answer 1511

**Antenatally**: Polyhydramnios due to inadequate ingestion of amniotic fluid by the fetus **Postnatally**: * Distended abdomen * Vomiting - **within 24-48 hours of life often following the first oral feed** * The vomitus may be bilious or non-bilious. Depending on the site of atresia. * Associated with Down's

Answer 1512

* **Other causes of neonatal intestinal obstruction** (e.g. **jejunoileal atresia** or **malrotation**). They also present with symptoms of vomiting and abdominal distension. However, jejunoileal atresia often presents with a more distal obstruction pattern and malrotation may be accompanied by pain. * **Gastroesophageal reflux disease (GORD)** Which can also cause vomiting, but is usually associated with irritability and feeding problems. * **Pyloric stenosis** Which presents with non-bilious, projectile vomiting and a palpable 'olive' mass in the abdomen.

Answer 1513

**Abdominal Xray** * This shows a characteristic **'double bubble' sign**. This includes one gas bubble visible in the stomach, and another in the proximal, patent part of the duodenum prior to the atresia. * This pattern occurs due to air from the stomach being trapped between the pyloric sphincter and the blind end of the duodenum.

Answer 1514

* Primary management is **Surgical repair**, specifically **duodenoduodenostomy**. * This procedure involves reconnecting the closed proximal and distal segments of the duodenum to alleviate the obstruction.

Answer 1515

Gestational diabetes refers to **diabetes triggered by pregnancy**. It is caused by reduced insulin sensitivity during pregnancy, and resolves after birth. Its defined as glucose intolerance with: * **Fasting blood glucose levels ≥ 5.6 mmol/L** or * **2-hour plasma glucose levels ≥ 7.8 mmol/L** * Both on a **75g Oral Glucose Tolerance Test** (OGTT).

Answer 1516

* Previous gestational diabetes * Previous macrosomic baby (≥ 4.5kg) * Maternal obesity; BMI > 30 * Ethnic origin (black Caribbean, Middle Eastern and South Asian) * Family history of diabetes (first-degree relative) * History of stillbirth or perinatal death

Answer 1517

It often asymptomatic, but it can present with the classic symptoms of Diabetes: * Polyuria * Thirst * Fatigue

Answer 1518

* **Type 1 or Type 2 Diabetes Mellitus** Generally presents with symptoms outside of pregnancy, including potential weight loss * **Other forms of gestational hyperglycaemia** These can be identified through early pregnancy HbA1c testing

Answer 1519

**Oral Glucose Tolerance Test** * Fasting blood glucose level (fasting glucose **≥5.6 mmol/L**) * 2-hour plasma glucose level (2-hour glucose **≥7.8 mmol/L**) This is done in the morning after a fast. The patient drinks a 75g glucose drink at the start of the test. The blood sugar level is measured before the sugar drink (fasting) and then at 2 hours. * **HbA1c** - May also be helpful in distinguishing between gestational and pre-existing diabetes early in pregnancy. * **Urinalysis** - To check for glycosuria | **Diagnosis of GDM is as easy as 5678**

Answer 1520

* **Macrosomia (birthweight >4kg)** Excess maternal glucose crossing the placenta and inducing increased fetal insulin production can lead to macrosomia, increasing the risk of shoulder dystocia, birth injuries, and emergency caesarean section * **Increased risk of sacral agenesis** in the developing foetus * **Pre-term delivery** May cause neonatal respiratory distress syndrome * **Neonatal hypoglycaemia** High fetal insulin levels after delivery may lead to hypoglycaemia, which if severe, may result in seizures in the baby * **Long-term risk** Increased risk of the baby developing type 2 diabetes later in life

Answer 1521

* Increased risk of hypertension and pre-eclampsia * Future risk: Increased risk of developing type 2 diabetes and GDM in subsequent pregnancies

Answer 1522

**Initial Management**: * **Fasting glucose less than 7 mmol/l**: Trial of diet and exercise for 1-2 weeks, followed by metformin, then insulin * **Fasting glucose above 7 mmol/l** start insulin ± metformin * **Fasting glucose above 6 mmol/l plus macrosomia (or other complications)** start insulin ± metformin * Glibenclamide (a sulfonylurea) if the mother declines insulin or cannot tolerate metformin Mothers need four weekly ultrasound scans to monitor the fetal growth and amniotic fluid volume from 28 to 36 weeks gestation. Women with gestational diabetes also need to moniter their blood sugar levels several times daily.

Answer 1523

* Fasting: 5.3 mmol/l * 1 hour post-meal: 7.8 mmol/l * 2 hours post-meal: 6.4 mmol/l * Avoiding levels of 4 mmol/l or below

Answer 1524

**For Mothers:** * Gestational diabetes **improves immediately after birth**. * Women with gestational diabetes can stop their diabetic medications immediately after birth. * They need follow up to test their fasting glucose after at least six weeks (to ensure that their GDM has resolved) **For Neonates:** * Babies need close **monitoring for neonatal hypoglycaemia**, with regular blood glucose checks and frequent feeds. * The aim is to maintain their blood sugar above 2 mmol/l, and if it falls below this, they may need **IV dextrose or nasogastric feeding**.

Answer 1525

Oesophageal atresia refers to a **congenital disorder** in which the **oesophagus terminates in a blind-ended pouch** rather than connecting normally to the stomach.

Answer 1526

It's thought to result from an **aberration in the embryological development of the foregut** during the **fourth week of gestation**.

Answer 1527

Associated with tracheo-oesophageal fistula and polyhydramnios May present with choking and cyanotic spells following aspiration VACTERL associations

Answer 1528

**Congenital Diaphragmatic Hernia**: * Respiratory distress * Bowel sounds in the chest * Absent breath sounds on one side **Duodenal Atresia**: * Polyhydramnios * Distended abdomen * Bilious vomiting **Gastroesophageal Reflux Disease (GORD)**: * Irritability during feeding * Frequent vomiting or spit up * Failure to gain weight

Answer 1529

* **Radiographic examination** Typically involving a coiled nasogastric tube on an anteroposterior chest radiograph, can help in diagnosing oesophageal atresia * **Echocardiography and renal ultrasound** Recommended to check for associated congenital anomalies * **Genetic counselling and testing** May be considered in some cases due to potential genetic contributions

Answer 1530

**Primary management**: Surgical intervention to correct the anatomical abnormalities. This can be performed soon after birth to connect the two parts of the oesophagus and close off any fistula with the trachea. **Postoperative care**: Involves monitoring for complications like anastomotic leaks, strictures, or recurrent fistula, as well as managing nutritional and respiratory support as required.

Answer 1531

* Uncontrolled hyperthyroidism can lead to a preterm birth (before 37 weeks of pregnancy) and low birth weight for the baby. * In mothers with Graves Disease, there is a 1% chance that this can cause Graves disease in the newborn. * There's a possible increased risk pregnancy-induced hypertension.

Answer 1532

* This is because the most commonly prescribed anti-thyroid medication (**Methimazole**), can be associated with birth defects. * The reccomendation is to **switch to Propylthiouracil (PTU) for the first trimester**. Then to switch back to Methimazole for the second trimester, and the remainder of the pregnancy. * The use of radioactive iodine is also not safe to use for the duration of the pregnancy.

Answer 1533

Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae * Typically defined as **less than 2.6 mmol/L.**

Answer 1534

**Transient hypoglycaemia in the first hours after birth is common.** * Preterm birth (< 37 weeks) * maternal diabetes mellitus * IUGR * hypothermia * neonatal sepsis * inborn errors of metabolism * nesidioblastosis * Beckwith-Wiedemann syndrome

Answer 1535

**may be asymptomatic** **autonomic (hypoglycaemia → changes in neural sympathetic discharge)** * 'jitteriness' * irritable * tachypnoea * pallor **neuroglycopenic** * poor feeding/sucking * weak cry * drowsy * hypotonia * seizures **other features may include** * apnoea * hypothermia

Answer 1536

**Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic** **Asymptomatic** * encourage normal feeding (breast or bottle) * monitor blood glucose **symptomatic or very low blood glucose (< 2 mmol/l)** * Admit to the neonatal unit * Intravenous infusion of 10% dextrose

Answer 1537

Group B Streptococcus (GBS) infection is a bacterial infection caused by the bacterium **Streptococcus agalactiae**.

Answer 1538

GBS infection in neonates usually results from **vertical transmission** of the bacteria from mother to child during childbirth. GBS is the most common cause of early-onset severe infection in the neonatal period 20-40% of women have GBS in their bowel flora

Answer 1539

Occurs when a serious bacterial or viral infection in the blood affects babies **within the first 28 days of life** * Early-onset (EOS, within 72 hours of birth) * Late-onset (LOS, between 7-28 days of life) sepsis

Answer 1540

* **Prematurity** * **Low Birth Weight (<2.5kg)** * Premature and prolonged rupture of the membranes * **Vaginal GBS colonisation** * previous sibling GBS infection * maternal pyrexia or sepsis (>38 degrees) * Maternal Chorioamnionitis

Answer 1541

**Group B streptococcus (GBS)** Followed by Escherichia coli (e. coli) These account for 2/3rds of Neonatal Sepsis

Answer 1542

* Coagulase negative staphylococcus * Pseudomonas * Klebsiella * Staph aureus * Listeria monocytogenes

Answer 1543

Fever Reduced tone and activity Poor feeding Respiratory distress or apnoea Vomiting Tachycardia or bradycardia Hypoxia Jaundice within 24 hours Seizures Hypoglycaemia

Answer 1544

* Confirmed or suspected sepsis in the mother * Signs of shock * Seizures * Term baby needing mechanical ventilation * Respiratory distress starting more than 4 hours after birth * Presumed sepsis in another baby in a multiple pregnancy

Answer 1545

**Blood Cultures:** Should obtain 2 blood cultures **FBC:** may be associated with both neutrophilia or neutropenia **CRP:** Usually raised and is a good marker for monitoring and guiding management **Blood Gases** Metabolic acidosis is very concerning **Urine MC&S:** Rarely positive in EOS but can be useful in LOS **Lumbar Puncture:** Used if there is concern of a meningitis source of sepsis. Most hospitals have guidelines that fever in a <28 day neonate require LP as part of septic screen

Answer 1546

**one risk factor or clinical feature** * monitor the observations and clinical condition for at least 12 hours **two or more risk factors or clinical feature of neonatal sepsis** * start antibiotics * Antibiotics should be started if there is a **single red flag** * Antibiotics should be given within 1 hour of making the decision to start them **Blood cultures should be taken before antibiotics are given** * Check a baseline FBC and CRP **Lumbar puncture if infection is strongly suspected or there are features of meningitis (e.g. seizures)**

Answer 1547

**Broad Spectrum Antibiotics** * NICE recommend **Benzylpenicillin and Gentamycin** * Cefotaxime can be given in lower risk babies **Monitoring CRP:** * Check CRP at 18-24 hours (post Abx) to monitor progress and guide duration of therapy * Abx can be stopped at 48 hrs if CRP <10 and BCs negative at presentation and at 48hrs * Check CRP at 5 days if still on Tx * Consider LP if CRP >10 **Additional Management:** * Manage Oxygen status * Maintain normal fluid/electrolytes * Prevent/manage Hypoglycaemia * Prevent/manage Metabolic Acidosis

Answer 1548

**Benzylpenicillin is Abx of choice in IAP** * Swab for GBS in women at 35-37 weeks or 3-5 weeks prior to delivery date * **intrapartum Antibiotic Prophylaxis (IAP)** given to all pre-term labour * Women with pyrexia during labour given IAP

Answer 1549

* Listeriosis is an infection caused by the **bacterium Listeria monocytogenes**, often contracted through **foodborne transmission**. * It can be dangerous for pregnant women and people with weakened immune systems.

Answer 1550

* Listeria monocytogenes, the causative agent of listeriosis, is a ubiquitous organism found in many food products, **particularly unpasteurised dairy products and soft cheeses.** * **Vertical transmission** of Listeria from a pregnant mother to the foetus can also occur **through the placenta** or **during delivery**.

Answer 1551

Listeriosis typically presents as one of the following conditions: * **Neonatal sepsis**: Acute, life-threatening bacterial infection in the blood. * **Meningitis**: Inflammation of the protective membranes covering the brain and spinal cord. * **Respiratory distress** due to aspiration of infected amniotic fluid: Difficulty breathing caused by inhalation of infected amniotic fluid. **Other manifestations** include: * Chorioamnionitis * Premature labour * Stillbirth.

Answer 1552

**Cultures for Listeria** should be carried out; which can involve: * Blood cultures * Cerebrospinal fluid cultures * Placental and meconium cultures

Answer 1553

* Primary treatment involves a combination of the antibiotics **ampicillin and an aminoglycoside**

Answer 1554

* Avoidance of potentially contaminated food products in pregnant women. * Cultures for Listeria should be carried out in cases of unexplained febrile illness or suspicion of infection while pregnant.

Answer 1555

**Cleft lip** failure of the fronto-nasal and maxillary processes to fuse **Cleft Palate** failure of the palatine processes and the nasal septum to fuse Cleft lip and cleft palate can occur together or on their own.

Answer 1556

Even though most cases of cleft lip and cleft palate occur randomly; * Maternal Antiepileptic use * Having a **relative with cleft lip or palate** makes it slightly more likely. * 3 in 10 cases of cleft lip or palate are associated with another underlying syndrome.

Answer 1557

* Cleft lip or cleft palate is not life threatening. * **Problems with feeding, swallowing and speech**. * **Psycho-social issues**, including affecting **bonding between mother and child**, (but surgery generally resolves these problems). * More prone to **hearing problems, ear infections and glue ear**.

Answer 1558

* The first priority is to **ensure the baby can eat and drink**. This may involve specially shaped bottles and teats. * Definitive treatment is to **surgically correct the cleft lip or palate**. This leaves a subtle scar, but is generally very successful, giving full functionality to the child.

Answer 1559

* **Cleft Lip Surgery** - At 3 months * **Cleft Palate Surgery** - At 6 - 12 months

Answer 1560

Congenital varicella syndrome is a condition that arises when a non-immune woman contracts the varicella zoster virus (VZV) during her first trimester of pregnancy. VZV is the causative virus of chicken pox and shingles. It can have teratogenic effects in the neonate.

Answer 1561

* Low birth weight * Limb hypoplasia * Skin scarring * Microcephaly * Eye defects * Learning disabilities

Answer 1562

* **Rubella syndrome** Characterised by deafness, eye defects, and cardiac abnormalities. * **Cytomegalovirus infection** Presents with microcephaly, hearing loss, and learning disabilities. * **Toxoplasmosis** Exhibits eye defects, hydrocephalus, and calcifications in the brain.

Answer 1563

Diagnosis is primarily clinical

Answer 1564

Post delivery, the neonate should be monitored and given **IV acyclovir**.

Answer 1565

Prostaglandin E1 to maintain the PDA open so that oxygenated blood can mix and be transported around the rest of the body.

Answer 1566

**6 Weeks:** Smiles (refer at 10 weeks) **3 months:** Laughs and enjoys friendly handling **6 Months:** Not shy **9 Months:** Shy and takes everything to mouth

Answer 1567

The major risk factors for SIDS are: * prone sleeping * parental smoking * bed sharing * hyperthermia and head covering * prematurity

Answer 1568

Distal Ventral Surface of the Penis

Answer 1569

**Symptomatic:** Admit to neonatal unit and give IV 10% dextrose **Asymptomatic:** Encourage normal feeding (breast or bottle) Monitor blood glucose

Answer 1570

Twice a Day

Answer 1571

* once hypospadias has been identified, infants should be referred to specialist services * corrective surgery is typically performed when the child is around 12 months of age (after 6 months) * it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure * in boys with very distal disease, no treatment may be needed.

Answer 1572

**1. Antibiotics** < 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime > 3 months: IV cefotaxime (or ceftriaxone) **2. Steroids** NICE advise against giving corticosteroids in children younger than 3 months dexamethsone should be considered if the lumbar puncture reveals any of the following: frankly purulent CSF CSF white blood cell count greater than 1000/microlitre raised CSF white blood cell count with protein concentration greater than 1 g/litre bacteria on Gram stain **3. Fluids** treat any shock, e.g. with colloid **4. Cerebral monitoring** mechanical ventilation if respiratory impairment **5. Public health notification** and antibiotic prophylaxis of contacts ciprofloxacin is now preferred over rifampicin

Answer 1573

Infection of the newborn eye. Presents with "sticky eyes" Responsible organisms include Chlamydia trachomatis Neisseria gonorrhoeae Suspected ophthalmia neonatorum should be referred for same-day ophthalmology/paediatric assessment.

Answer 1574

Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs

Answer 1575

The risk of SDLD decreases with gestation 50% of infants born at 26-28 weeks 25% of infants born at 30-31 weeks

Answer 1576

male sex diabetic mothers Caesarean section second born of premature twins

Answer 1577

respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis

Answer 1578

Ground glass appearance with an indistinct heart border

Answer 1579

prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation oxygen assisted ventilation exogenous surfactant given via endotracheal tube

Answer 1580

Gastroschisis and omphalocele present similarly, but gastroschisis refers to a defect lateral to the umbilicus whereas omphalocele refers to a defect in the umbilicus itself.

Answer 1581

* doesn't smile at 10 weeks * cannot sit unsupported at 12 months * cannot walk at 18 months * Fine motor skill problems * hand preference before 18 months is abnormal and may indicate cerebral palsy

Answer 1582

Internal Fixation

Answer 1583

**Enuresis Alarm** Then Desmopressin if the enuresis alarm does not work.

Answer 1584

**4/5 features must be present to diagnose Kawasaki disease along with High fever or >5 days** * Bilateral Conjunctivitis * Cervical Lymphadenopathy * Polymorphic Rash * Cracked Lips/Strawberry Tongue * Oedema/Desquamation of the hands and feet

Answer 1585

Coronary Artery Aneurysms using Echocardiogram

Answer 1586

Ultrasound

Answer 1587

Fever which resolves followed later by a pink maculo-papular rash. Roseola Infantum is caused by human herpes virus 6 or 7 (HHV-6/7)

Answer 1588

Automated Otoacoustic Emissions

Answer 1589

Symptoms for less than 72 hours. Recent viral infection is also a risk factor. NICE guidelines recommend, **if the patient is aged 3-9 years, well, afebrile, mobile but limping, and has had the symptoms for less than 72 hours, consider a working diagnosis of transient synovitis** It should be managed with simple analgesia, good safety net advice, and follow-up to ensure resolution of symptoms.

Answer 1590

Viral infection

Answer 1591

* **Group A Strep** (Strep Pyogenes) * **Strep Pneumoniae** **Others** * Haemophilus influenzae * Morazella catarrhalis * Staphylococcus aureus

Answer 1592

Adenoids (Top) Tubal Tonsils (each side) Palatine Tonsils (each side) Lingual Tonsil (Bottom)

Answer 1593

* Sore throat * Painful Swallowing * Fever * Reduced Oral Intake **Examination** * Red inflamed tonsils * Fever * with/without **Exudate** * May have Cervical Lymphadenopathy

Answer 1594

Centor Criteria: Score of 3 or more = 40-60% bacterial probability FeverPAIN Score: Score of 4-5 gives a 62-65% bacterial Probability

Answer 1595

* Fever over 38ºC * Tonsillar exudates * Absence of cough * Tender anterior cervical lymph nodes (lymphadenopathy)

Answer 1596

Fever during previous 24 hours P – Purulence (pus on tonsils) A – Attended within 3 days of the onset of symptoms I – Inflamed tonsils (severely inflamed) N – No cough or coryza

Answer 1597

**Educate patients/parents with viral tonsillitis and safety net** * **Simple Analgesia:** Paracetamol, Ibuprofen to control pain and fever * Advise patient to return if pain not settled **after 3 days or fever >38.3** **Consider Antibiotics if Centor >3 or FeverPAIN >4** * **Penicillin V** (phenoxymethylpenicillin) for **10 day course** is first line * Clarithromycin in True penicillin allergy

Answer 1598

* Chronic tonsillitis * Peritonsillar abscess, also known as **quinsy** * **Otitis media** if the infection spreads to the inner ear Scarlet fever Rheumatic fever Post-streptococcal glomerulonephritis Post-streptococcal reactive arthritis

Answer 1599

**peritonsillar Abscess** Trapped pus forms an abscess in the tonsillar region Usually a complication of untreated/partially treated tonsillitis

Answer 1600

**Similar to tonsillitis** * Sore throat * Painful swallow * Fever * Referred ear pain **Additional Symptoms indicating Quinsy** * **Trismus:** unable to open their mouth * Voice changes due to pharyngeal swelling

Answer 1601

Bacterial infection * Streptococcus Pyogenes (Group A strep) * Staphylococcus Aureus * Haemophilus influenzae

Answer 1602

* Referral to ENT team for **incision and drainage** under GA * Broad spectrum antibiotics **Co-amoxiclav** before and after surgery * Steroids may help settle inflammation

Answer 1603

The commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs **often due to caesarean sections** where the fluid isn't squeezed out of the lungs during passage through the birth canal

Answer 1604

* Chest Xray may show **hyperinflation of the lungs and fluid in the horizontal fissure** **Observation and supportive care** **supplementary oxygen may be required** TTN usually settles in 1-2 days