Paediatrics Flashcards

Question

What is the management of croup?

Answer 1

**MILD** - Self Limiting **MODERATE** - Dexamethasone Single Dose 150mcg **SEVERE** 1) Oral dexamethasone 2) Oxygen 3) Nebulised budesonide 4) Nebulised adrenalin 5) Intubation and ventilation

Answer 2

Westley score

Answer 3

Consciousness / 5 Cyanosis / 5 Stridor / 5 Retractions / 3 Air Entry / 2

Answer 4

Clinical X Ray = Steeple Sign Stridor on Auscultation **DO NOT EXAMINE AIRWAYS**

Answer 5

**Steeple Sign** - Subglottal Narrowing (Wine Bottle Shape)

Answer 6

A Superinfection affecting the airways (Bacterial Tracheatis)

Answer 7

Clinical Lateral Neck X Ray - Steeple Sign - Tracheal Secretions Bronchoscopy Labs and Cultures

Answer 8

- Inflamed Mucosa - Thick Purulent S ecretions - Pseudomembrane

Answer 9

1) Intubation and Suction 2) IV Flucloxacillin/ Ceftriaxone 3) ICU and Support

Answer 10

Rapid deterioration of symptoms of asthma

Answer 11

--> infection --> exercise --> cold weather

Answer 12

- Progressively worsening shortness of breath - Respiratory distress - Fast respiratory rate (tachypnoea) - Expiratory wheeze and chest tightness on auscultation

Answer 13

**A silent chest is an ominous sign**. This is where the 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 reduced respiratory effort due to fatigue

Answer 14

**MODERATE** - Peak flow >50% predicted - Normal speech - No other features **SEVERE** - Peak flow <50% predicted - Saturations <92% - Unable to complete sentences in one breath - Resp distress w/ RR >30 - Heart rate >125 in >5 years **LIFE-THREATENING** - Peak flow <33% predicted - Saturations <92% - Poor resp effort and Hypotension - Silent chest - Cyanosis - Confusion

Answer 15

- Peak flow >50% predicted - Normal speech - No other features

Answer 16

- Peak flow <50% predicted - Saturations <92% - Unable to complete sentences in one breath - Resp distress w/ RR >30 - Heart rate >125

Answer 17

- Peak flow <33% predicted - Saturations <92% - Poor resp effort and Hypotension - Silent chest - Cyanosis - Confusion

Answer 18

O - Oxygen S - Salbutamol (Nebulised or Inhaled) H - Hydrocortisone (Oral) I - Ipratropium bromide (Anti-muscarinic) I - IV magnesium sulphate T - Theophyline/ Aminophyline (IV) M - Morphine E - Escalate

Answer 19

Managed as an **outpatient with regular salbutamol inhalers via a spacer** (e.g. 4-6 puffs every 4 hours)

Answer 20

Nebulised SABA (10 Puffs/every 2 hours) PO Prednisolone Nebulised Ipratropium w/ Magnesium Sulfate IV Aminophyline Intubation and Ventilation

Answer 21

**Serum potassium** - Salbutamol causes potassium to be absorbed from the blood into the cells Can also cause Tachycardia and Tremor

Answer 22

Montelukast

Answer 23

Chronic inflammatory airway disease leading to reversible airway obstruction in response to a stimulus and causing bronchoconstriction

Answer 24

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

Answer 25

- **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 26

Type 1 Hypersensitivity

Answer 27

Dust (house dust mites) Animals Cold air Exercise Smoke Food allergens

Answer 28

- History and presentation - Peak flow variability is measured by keeping a diary of peak flow (several times a day for 2 to 4 weeks) - Spirometry with Bronchodilator Reversibility (Children >5 years) - Direct Bronchial Challenge test with histamine or methacholine - Fractional exhaled nitric oxide (FeNO)

Answer 29

1) SAB2A 2) Low ICS Inhaler 3) Moderate ICS Inhaler 4) LTRA (Montelukast)

Answer 30

1) SAB2A 2) Low dose ICS Inhaler 3) Add Oral LTRA (Montelukast) 4) Titrate up the corticosteroid inhaler to a medium dose. 5) Replace LTRA w/ LABA 5) Increase the dose of the inhaled corticosteroid to a high dose. 6) Initiate MART Therapy w/ SABA

Answer 31

ICS w/ Long acting Beta 2 Agonist

Answer 32

Experience no symptoms during the day/ night Require no rescue medication Have no exacerbations Maintain normal activity levels Exhibit minimal side effects from treatment Display optimal lung function.

Answer 33

Influenza Vaccine - If after long period of steroid use do to risk of immunocompromisation

Answer 34

Wheezy illness caused by a viral infection.

Answer 35

RSV Rhinovirus Influenza Virus

Answer 36

**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. Air flowing through these narrow airways causes a wheeze, and the restricted ventilation leads to respiratory distress

Answer 37

- Presenting before 3 years of age - No atopic history - Only occurs during viral infections Asthma has other triggers not just bacterial and Viral Asthma has reversible obstructive properties

Answer 38

**RSV - respiratory syncytial virus** Parainfluenza Influenzae Adenovirus Rhinovirus

Answer 39

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

Answer 40

Adults have larger airways so inflammation and mucus production doesn't cause a problem whereas children have smaller airways to begin with.

Answer 41

Inhaled foreign body or tumour or infection

Answer 42

3 Months to 1 Year

Answer 43

Mild = Self Resolving **Severe** 1) SABA (10 Puffs) 2) + ICS (200mg Beclametesone) 3) LTRA (Montelukast)

Answer 44

**Coryzal symptoms** - Running and snotty nose - Sneezing - Mucus in the throat - Watery eyes **Signs of respiratory distress** Dyspnoea/ Tachypnoea Apnoea Poor feeding **Mild fever** under 39 **Wheeze and crackles** on auscultation

Answer 45

Raised respiratory rate Accessory Muscle Breathing Intercostal and subcostal recessions Nasal flaring Head bobbing Tracheal tugging Cyanosis (due to low oxygen saturation) Abnormal airway noises

Answer 46

Allergies Asthma Anaphylaxis Foreign Body Viral Infection Bronchiectasis Bronchiolitis Bronchitis Cystic Fibrosis Pneumonia

Answer 47

--> Wheezing is a whistling sound caused by narrowed airways, typically heard during expiration

Answer 48

Laryngomalacia Laryngospasm Vocal Paralysis Croup Epiglotitis GORD Trauma/ Tumour

Answer 49

inflammation and infection of the bronchioles (small airways of the lungs)

Answer 50

--> Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup

Answer 51

1) Bronchiolitis starts with URTI with coryzal symptoms/ half gets better 2) Spontaneously, the other half develops chest symptoms/ Sx last for 7 to 10 days Children who have had bronchiolitis are more likely to have viral-induced wheeze during childhood.

Answer 52

Bronchioles - Mucus Build Up - Inflammation Alveoli - Alveolar Collapse - Hyperinflation

Answer 53

--> Hereditary clubbing --> Cyanotic heart disease --> Infective endocarditis --> Cystic fibrosis --> Tuberculosis --> Inflammatory bowel disease --> Liver cirrhosis

Answer 54

Supportive management - Ensuring adequate intake - Saline nasal drops and nasal suctioning - Supplementary oxygen - Ventilatory support if required (CPAP if Severe) Immunocompromised = IM Palivizumab Fever = Acetaminophen

Answer 55

Transplant Recurrent Infections Typically triggered by Adenovirus

Answer 56

Severe scarring in a Mosaic Pattern on High Res CT

Answer 57

IM Palivizumab

Answer 58

Genetic Testing (Amniocentesis/ Chorionic Villous for CFTR) Newborn Blood Spot/ Heel Prick (Trypsinogen) Faecal Elastase = Negative **Gold = Sweat Test (NaCl >60mmol/L)**

Answer 59

Capillary blood gases

Answer 60

- Staph aureus - given prophylactic flucloxacillin to prevent staph - Pseudomonas - Resistant to many types of abx, ciprofloxacin can be used

Answer 61

**Rising pCO2** Collapsed airways can’t clear waste carbon dioxide **Falling pH** CO2 is building up and they are not able to buffer the acidosis this creates. This is respiratory acidosis. If they are also hypoxic, this is classed as type 2 respiratory failure.

Answer 62

**Chest physiotherapy** - Clear mucus and reduce the risk of infection and colonisation **Exercise** - Improves respiratory function and reserve, and helps clear sputum **A high-calorie diet** - For malabsorption, increased respiratory effort, coughing, infections and physiotherapy **CREON** - Digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) **Prophylactic Flucloxacillin** - Reduce the risk of bacterial infections (particularly staph aureus) **Bronchodilators** - Help treat bronchoconstriction **Nebulised DNase (dornase alfa)** - An enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear **Nebulised hypertonic saline** **Vaccinations ** - Pneumococcal, influenza and varicella

Answer 63

**Palivizumab** - monoclonal antibody - Monthly injection - Passive protection for high-risk (ex-premature or congenital heart disease)

Answer 64

Inflammation and swelling of the epiglottis and can swell to the point where airway is obstructed completely

Answer 65

- Autosomal recessive condition affecting the mucus glands, Mutation of the CFTR gene on chromosome 7 - CFTR codes for chloride cellular channels

Answer 66

Haemophilus influenza type B infection

Answer 67

Most Patients - Chronic Cough - Finger Clubbing - Poor Weight Gain - Salty Sweat - Thick Secretions - Increased URTI risk - Malabsorption (Steatorrhea) Neonates - Meconium Ileus (Treat w/ Gastrogaffin) - Intestinal Obstruction - Failure to Thrive Children - Absent Vas Deferens - Bronchopulmonary Aspergillosis - Poor Growth - Bronchiectasis

Answer 68

Bacterial - S Pneumoniae and S Pyogenes Viral - Varicella Zoster and Herpes Trauma - Inflammation Irritants - Smoking and Pollution

Answer 69

Dysphagia Dysphonia Drooling Dehydration Distress (Respiratory) Fever Tripoding

Answer 70

1) DO NOT EXAMINE AIRWAYS 2) ENT and Anaethesia 3) Lateral neck x-ray = Thumb Sign

Answer 71

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

Answer 72

**Important to not distress the patient - can cause prompt closure of the airway** 1) Intubation preparation and secure the airway 2) Iv abx (ceftriaxone) and steroids (dexamethasone) 3) Nebulised Adrenaline

Answer 73

H Influenza B Vaccine Rifampicin for Close Contacts

Answer 74

--> hole in the septum between the two atria

Answer 75

**ACYANTOIC (Left to Right)** - Blood shunting from left to right atrium as high pressure in left - Blood continues to flow into the pulmonary vessels and lungs to get oxygenetated - Leads to right heart strain/ failure and Pulmonary Hypertension

Answer 76

Pulmonary Hypertension - Right Sided Overload = Right Ventricular Hypertrophy - Increased Right sided Pressure = Reversal of Shunt - Right to Left Shunt = Cyanosis (Eisenmenger)

Answer 77

Stroke (VTE Shunts from right to left) Arrythmia (Atrial Flutter/Fibrillation) Pulmonary Hypertension Heart Fail

Answer 78

Mid-systolic, crescendo-decrescendo murmur loudest in the upper left sternal border w S2 Splitting - Asymptomatic - Swelling/ Oedema - Palpitations - Dyspnoea - Failure to Thrive - Poor Weight gain

Answer 79

**Referral to a paediatric cardiologist** Surgical - Transverse Catheter Closure - Open Heart Surgery Medication - Anticoagulants are used to reduce the risk of clots and stroke in adults

Answer 80

congenital hole in the septum between the two ventricles

Answer 81

Downs syndrome Turners syndrome

Answer 82

Increased pressure in left ventricle Blood shunt from left to right = Oxygenated Right Ventricular Hypertrophy = Increased pressure in right side Shunt reversal = Right to left (Cyanotic)

Answer 83

Small = Asymptomatic Large = Failure to Thrive/ Pansystolic Murmur Cyanotic = Right Ventricular Hypertrophy and Eisenmenger

Answer 84

**Pan systolic murmur** heard at the lower left sternal border may be a systolic thrill on palpation

Answer 85

-VSD Mitral regurgitation Tricuspid regurgitation

Answer 86

Small = Spontaneous Large = Transvenous Catheter Closure/ Heart Surgery There is an increased risk of infective endocarditis in patients with a VSD. **Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk of developing infective endocarditis.**

Answer 87

When the Ductus Artriosus does not close <3 days after birth

Answer 88

Prematurity

Answer 89

Signs of heart failure Machine like Murmur

Answer 90

--> The pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery. --> This creates a left-to-right shunt where blood from the left side of the heart crosses to the circulation from the right side. --> This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right-sided heart strain as the right ventricle struggles to contract against the increased resistance. --> 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 91

A patent ductus arteriosus can be picked up during the newborn examination if a murmur - **left upper chest continuous machine-like murmur is heard**. It may also present with symptoms of: Shortness of breath Difficulty feeding Poor weight gain Lower respiratory tract infections

Answer 92

**Continuous crescendo-decrescendo “machinery” murmur** that may continue during the second heart sound, making the second heart sound difficult to hear.

Answer 93

Echocardiogram - can also assess the hypertrophy effects on the heart

Answer 94

<1 Year = Echo Monitoring >1 year of age = Trans-catheter/ surgical closure Symptomatic patients or those with evidence of heart failure as a result of PDA are treated earlier. **Can be Prescribed Ibuprofen/ Indomethacin/ Methacin**

Answer 95

A persistent patent ductus arteriosus (PDA) in a paediatric patient may result in a **collapsing pulse due to increased pressure gradients across the defect.**

Answer 96

Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch at the Ductus Arteriosus

Answer 97

Turners syndrome

Answer 98

Narrowing of the aorta reduces the pressure of blood flowing to the distal It increases the pressure in areas proximal to the narrowing, such as the heart and the first three branches of the aorta. Perfusion is greater in Upper body > Lower Body

Answer 99

- **Weak Femoral Pulse** w/ 4 limb Blood Pressure - **Systolic murmur** heard below the left clavicle (left infraclavicular area) and below the left scapula. - **Scapular Bruits** **INFANTS** Tachypnoea and increased work of breathing Poor feeding Grey and floppy baby **OLDER** Left ventricular heave due LVH Underdeveloped left arm where there is a reduced flow to the left subclavian artery Underdevelopment of the legs

Answer 100

Neonates = **Prostaglandin E is used to keep the ductus arteriosus** open while waiting for surgery. This allows some blood to flow through the ductus arteriosus into the systemic circulation distal to the coarctation. **Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.** >1 year olds = Angioplasty and stent insertion

Answer 101

Congenital condition with four coexisting pathologies: --> VSD --> Overriding aorta --> pulmonary valve stenosis --> right ventricular hypertrophy

Answer 102

**Ventricular Septal Defect** Allows blood to flow between the ventricles **Overriding Aorta** Aorta entrace displaced further right above ASD. This means that when the right ventricle contracts and sends blood upwards, the aorta is in the direction of travel of that blood, therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart. **Pulmonary Valve Stenosis** Greater resistance against the flow of blood from the right ventricle. This encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels. **Right Ventricular Hypertrophy** Attempts to pump blood against the resistance of the left ventricle and pulmonary stenosis, causes right ventricular hypertrophy, with thickening of the heart muscle. --> These cardiac abnormalities cause a right to left cardiac shunt. This means blood bypasses the child’s lungs. Blood bypassing the lungs does not become oxygenated. Deoxygenated blood entering the systemic circulation causes cyanosis. The degree to which this happens is related mostly to the severity of the patients pulmonary stenosis.

Answer 103

Pulmonary Valve Stenosis - the greatest determinant of the magnitude of the shunt, and accordingly, the degree of cyanosis

Answer 104

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

Answer 105

Chest X-Ray = Boot Shaped Heart Gold = ECHO w/ Doppler Studies

Answer 106

**Ejection systolic murmur** caused by pulmonary stenosis may be heard on the newborn baby check. Cyanosis @ Tips and Lips Clubbing @ Tips and Toes Failure to Thrive Tet Spells Tet Squat (Patient may do this to relieve symptoms) Heart Fail

Answer 107

Intermittent symptomatic periods where the **right to left shunt becomes temporarily worsened, precipitating a cyanotic episode** Decreased Systemic Vascular resistance = Blood will be pumped into aorta instead of Pulmonary Vessels These episodes may be precipitated by waking, physical exertion or crying. The child will become irritable, cyanotic and short of breath. **Severe spells can lead to reduced consciousness, seizures and potentially death.**

Answer 108

**Tet Squat** Squatting increases systemic vascular resistance. This encourages blood to enter the pulmonary vessels. **Critical?** Hypoxic? *Supplementary O2* *Beta blockers* = Relax the right ventricle and improve flow to the pulmonary vessels. *IV fluids* = 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* = Buffer any metabolic acidosis that occurs. *Phenylephrine infusion* = Increase systemic vascular resistance.

Answer 109

**Neonates** Prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood to flow from the aorta back to the pulmonary arteries. **Total surgical repair by open heart surgery is the definitive treatment, however, mortality from surgery is around 5%.**

Answer 110

**Attachments of the aorta and Pulmonary vessel are swapped** This means the right ventricle pumps blood into the aorta Left ventricle pumps blood into the pulmonary vessels In this scenario are two separate circulations that don’t mix: one travelling through the systemic system and right side of the heart and the other travelling through the pulmonary system and left side of the heart.

Answer 111

Ventricular septal defect Coarctation of the aorta Pulmonary stenosis

Answer 112

During pregnancy, there is normal development of the fetus. The gas and nutrient exchange happens in the placenta, therefore it is not necessary for blood to flow to the lungs. After birth, the condition is immediately life-threatening as there is no connection between the systemic circulation and the pulmonary circulation. The baby will be cyanosed. **Immediate survival depends on a shunt** between systemic circulation and pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. **This shunt can occur across a patent ductus arteriosus, atrial septal defect or ventricular septal defect.**

Answer 113

The defect is often diagnosed during pregnancy with antenatal ultrasound scans. Close monitoring is necessary during the pregnancy and arrangements should be made so that the woman gives birth in a hospital capable of managing the condition after birth. - Cyanosis - Respiratory Distress - Tachycardia - Poor Feeding - Failure to Thrive - Sweating

Answer 114

Where there is a ventricular septal defect, this will allow some mixing of blood between the two systems and provide some time for definitive treatment. **A prostaglandin infusion can be used to maintain the ductus arteriosus**. This allow blood from the aorta to flow to the pulmonary arteries for oxygenation. **Balloon septostomy** involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body. Open heart surgery is the definitive management. **A cardiopulmonary bypass machine is used to perform an “arterial switch” procedure** within a few days of birth. If present, a VSD or ASD can be corrected at the same time.

Answer 115

Differential diagnoses of cyanotic lesions using the 6 ‘T’s are: Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid valve abnormalities Ton of others – hypoplastic left heart, double outlet right ventricle, pulmonary atresia

Answer 116

Rheumatic fever is a systemic inflammatory disorder. It arises as a complication following infection with group A Streptococcus, but unlike the initial infection, rheumatic fever is not contagious.

Answer 117

between 5-15 years old more girls affected then boys

Answer 118

1) Group A Strep ( S Pyogenes) causing Tonsilitis 2) **The antibodies produced fight the infection as well as the myocardial muscle cells** 3) This causes a Type 2 Hypersensitivity reaction

Answer 119

The typical presentation of rheumatic fever occurs 2 – 4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems, causing: --> Fever --> Joint pain --> Rash --> Shortness of breath --> Chorea --> Nodules JOINTS --> migratory arthritis in large joint, hot swollen and painful joints HEART --> Carditis, or inflammation throughout the heart, with pericarditis, myocarditis and endocarditis, leads to --> Tachycardia or bradycardia/Murmurs from valvular heart disease, typically mitral valve disease/ Pericardial rub on auscultation/Heart failure SKIN--> subcutaneous nodules and erythema marginatum rash NERVOUS SYSTEM --> Chorea - key nervous system symptoms - irregular uncontrolled and rapid movements of limbs

Answer 120

Investigations that can help support the diagnosis include: --> Throat swab for bacterial culture --> ASO (antistreptococcal antibodies) antibody titres --> Echocardiogram, ECG and chest x-ray can assess the heart involvement --> A diagnosis of rheumatic fever is made using the Jones criteria.

Answer 121

Jones criteria

Answer 122

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 The mnemonic for the Jones criteria is JONES – FEAR. Major Criteria: J – Joint arthritis O – Organ inflammation, such as carditis N – Nodules E – Erythema marginatum rash S – Sydenham Chorea Minor Criteria: F - fever E - ECG Changes (prolonged PR interval) without carditis A - Arthralgia without arthritis R - Raised inflammatory markers (CRP and ESR)

Answer 123

1) Immediate Referral Infection? Phenoxymethylpenicillin for 10 days Joint Pain? NSAID's Carditis? Aspirin and Steroid 2) Prophylactic Penicillin

Answer 124

--> Recurrence of rheumatic fever --> Valvular heart disease, most notably mitral stenosis --> Chronic heart failure

Answer 125

Infective endocarditis refers to infection of the endothelium (the inner surface) of the heart. Most commonly, it affects the heart valves. It can be acute, subacute or chronic, depending on how rapidly and acutely the symptoms present and the causative organism.

Answer 126

The risk factors for infective endocarditis are: --> Intravenous drug use --> Structural heart pathology (see below) --> Chronic kidney disease (particularly on dialysis) --> Immunocompromised (e.g., cancer, HIV or immunosuppressive medications) --> History of infective endocarditis Structural pathology can increase the risk of endocarditis: --> Valvular heart disease --> Congenital heart disease --> Hypertrophic cardiomyopathy --> Prosthetic heart valves --> Implantable cardiac devices (e.g., pacemakers)

Answer 127

**S Aurues (IVDU, Surgery and Diabetics) - High Virulence = Acute Onset** S Viridians (Poor dental hygiene) - Low Virulence = Sub Acute S Bovis (Colon cancer patients) -Rule out w/ colonoscopy -Alpha Haemolytic Strep w/ Partial Haemolysis

Answer 128

The presenting symptoms are non-specific for an infection: Fever Fatigue Night sweats Muscle aches Anorexia (loss of appetite) The key examination findings are: **New or “changing” heart murmur** **Splinter haemorrhages** (thin red-brown lines along the fingernails) **Petechiae** (small non-blanching red/brown spots) on the trunk, limbs, oral mucosa or conjunctiva **Janeway lesions** (painless red flat macules on the palms of the hands and soles of the feet) **Osler’s nodes** (tender red/purple nodules on the pads of the fingers and toes) **Roth spots** (haemorrhages on the retina seen during fundoscopy) Splenomegaly (in longstanding disease) Finger clubbing (in longstanding disease)

Answer 129

1st) ECG (Long PR? Aortic Root Abscess) 2nd) Raised ESR/CRP and Neutrophilia 3rd) Blood Cultures from 3 sites in 24 hrs **Gold) Trans Oesophageal ECHO - Preffered for visuals but more invasive than TTE** 18F-FDG PET/CT - SPECT-CT for Prosthetic heart valves Modified Dukes criteria

Answer 130

Modified Dukes criteria

Answer 131

The Modified Duke criteria can be used to diagnose infective endocarditis. A diagnosis requires either: One major plus three minor criteria Five minor criteria Major criteria are: Persistently positive blood cultures (typical bacteria on multiple cultures) Specific imaging findings (e.g., a vegetation seen on the echocardiogram) Minor criteria are: Predisposition (e.g., IV drug use or heart valve pathology) Fever above 38°C Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions) Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis) Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)

Answer 132

S AUREUS * 1) Flucloxacillin (+ Genatmycin) * 2) IV Vancomycin w/ Rifampicin Prosthetic * 1) IV Flucloaxacillin, Rifampicin and Gentamycin S VIRIDIANS- Benzylpenicillin w/ Gentamycin GRAM NEGATIVE - Teicoplanin MRSA - Vancomycin (+ Gentamycin) HACEK - Ceftriaxone **GOLD) Valve replacement w/ prosthetics**

Answer 133

Heart failure relating to valve pathology Large vegetation or abscesses Infections not responding to antibiotics

Answer 134

Heart Fail 2nd to Regurgitation Aortic Root Abscess (Prolonged PR) Septic Emboli/ Sepsis -Suspect Acute Mesenteric Ischaemia

Answer 135

Aortic Root Abscess - Need urgent Cardiothoracic Assessment/ Surgery

Answer 136

Good oral health to reduce the risk of IE, streptococcus viridans

Answer 137

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

Answer 138

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.

Answer 139

Normal due to premature Lower Oesophageal Sphincter **Problematic If...** - Chronic cough - Hoarse cry - Distress, crying or unsettled after feeding - Reluctance to feed - Pneumonia - Poor weight gain **Older Children** - Heartburn - Acid regurgitation - Retrosternal or epigastric pain - Bloating - Nocturnal cough - Hallitosis

Answer 140

- Heartburn - Acid regurgitation - Retrosternal or epigastric pain - Bloating - Nocturnal cough - Hallitosis

Answer 141

Vomiting is very non-specific and is often not indicative of underlying pathology. Some of the possible causes of vomiting include: --> Overfeeding --> Gastro-oesophageal reflux --> Pyloric stenosis (projective vomiting) --> Gastritis or gastroenteritis --> Appendicitis --> Infections such as UTI, tonsillitis or meningitis --> Intestinal obstruction --> Bulimia

Answer 142

Not Keeping down food/ Projectile? - Pyloric Stenosis/ intestinal Obstruction Bile-stained vomit - Intestinal obstruction Haematemesis or melaena - Peptic ulcer, Oesophagitis or Varices Abdominal distention - Intestinal obstruction Reduced consciousness/ bulging fontanelle - Meningitis or Raised intracranial pressure Respiratory symptoms - Aspiration and infection Blood in the stools - Gastroenteritis or Cows milk protein allergy Infection - Pneumonia, UTI, tonsillitis, otitis or meningitis Rash/ Angioedema - Cows milk protein allergy Apnoeas? Urgent Assessment Needed

Answer 143

**MILD = Conservative** Small, frequent meals Burping regularly to help milk settle Not over-feeding Keep the baby upright after feeding (i.e. not lying flat) **MODERATE = Medication** Gaviscon w/ Feeds Thickened Milk or Anti Reflux Formula PPI (Omeprazole) **SEVERE = INVESTIGATION** Barium meal w/ endoscopy Surgical fundoplication

Answer 144

Prematurity Age 6-8 weeks Male Caucasian

Answer 145

**Hypertrophy of the Pyloric sphincter** causes narrowing of the canal between the stomach and duodenum. This **prevents food from travelling from the stomach to the duodenum** as normal. **After Feeding** Increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum Stomach ejects the food into the oesophagus, out of the mouth and across the room. This is called **“projectile vomiting”.**

Answer 146

**First few weeks of life** - Hungry, Thin, Pale baby - Failure to Thrive - Projectile Vomiting **After Feeding** A firm, round mass can be felt in the upper abdomen that “feels like a large olive”. This is caused by the hypertrophic muscle of the pylorus. **Blood gas analysis** Hypochloric/ Hypokalaemic metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach

Answer 147

Abdominal ultrasound to visualise the thickened pylorus May feel a "large olive" after feeding in the abdomen

Answer 148

**Ramstedt's Operation (Laparoscopic Pyloromyotomy)** An incision is made in the smooth muscle of the pylorus to widen the canal allowing that food to pass from the stomach to the duodenum as normal.

Answer 149

**Nil By Mouth** Dehydrated? IV Fluids Severe Dehydration? Acute Fluid Resus w/ Electrolyte correction

Answer 150

Idiopathic/ Functional constipation

Answer 151

Hirschsprung's disease CF (meconium ileus) Hypothyroidism Spinal cord lesions Sexual abuse Intestinal obstruction Anal stenosis Cows milk intolerance

Answer 152

E<3 Stools a week Hard stools/ Rabbit Dropping Tenesmus/ Straining Abdominal pain Retentive posturing Rectal bleeding associated with hard stools Encopresis and Soiling Loss of the sensation of the need to open the bowels

Answer 153

Faecal Incontinence secondary to Constipation - Not pathological until 4 years of age - Sign of chronic constipation where the rectum becomes stretched and loses sensation - Large hard stools remain in the rectum and only loose stools are able to bypass the blockage and leak out, causing soiling.

Answer 154

Habitually not opening the bowels Low fibre diet Poor fluid intake and dehydration Sedentary lifestyle Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)

Answer 155

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 start to **retain faeces in their rectum**. This leads to **faecal impaction**, which is where a large, hard stool blocks the rectum. 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 more difficult it is to treat the constipation and reverse the problem.

Answer 156

**Not passing meconium** - within 48 hours of birth (cystic fibrosis or Hirschprungs disease) Neurological signs or symptoms - particularly in the lower limbs (cerebral palsy or spinal cord lesion) **Vomiting** - intestinal obstruction or Hirschprungs disease) **Ribbon stool** (anal stenosis) Abnormal anus (anal stenosis/ IBD 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 157

Pain Reduced sensation Anal fissures Haemorrhoids Overflow and soiling Psychosocial morbidity

Answer 158

1) Correct any reversible contributing factors, 2) Recommend **high-fibre diet and good hydration** 3) Start laxatives (**movicol** is first line) **Faecal impaction? 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 159

--> Inflammation of the appendix --> due to obstruction at the point where the appendix meets the bowel from caecum --> can quickly progress into gangrene and rupture --> can release faecal contents and infective material into the abdomen which leads to peritonitis - inflammation of the peritoneal contents --> peak incidence of appendicitis is between 10 and 20

Answer 160

Obstruction at the point where the appendix meets the bowel from caecum

Answer 161

Central abdominal pain that moves down to the right iliac fossa McBurney's point is Tender - One-third of the distance from the ASIS to the umbilicus Loss of appetite Nausea and vomiting Rosvings sign - palpation of the left iliac fossa causes pain in the RIF Guarding on abdominal palpation Rebound tenderness - increased pain when quickly releasing pressure on the right iliac fossa Percussion tenderness is pain and tenderness when percussing the abdomen **REBOUND TENDERNESS AND PERCUSSION TENDERNESS SUGGESTS PERITONITIS, CAUSED BY A RUPTURED APPENDIX**

Answer 162

1st) Clinical w/ Raised Inflammatory Markers Female? Rule out Ectopic Pregnancy Imaging ) CT Abdomen and Pelvis Ultrasound preferred in mild cases **Negative Investigations w/ Positive Clinical** Diagnostic laparoscopy to visualise appendix and perform appendicectomy if required

Answer 163

**Ectopic Pregnancy** (Do a Pregnancy Test) **Ovarian Cysts** Ovarian cysts can cause pelvic and iliac fossa pain, particularly with rupture or torsion. **Meckel’s Diverticulum** Malformation of the distal ileum that occurs in around 2% of the population. It is usually asymptomatic, however it can bleed, become inflamed, rupture or cause a volvulus or intussusception. **Mesenteric Adenitis** Inflamed abdominal lymph nodes. This presents with abdominal pain, tonsilitis and URTI in children. **Appendiccal Mass** Omentum surrounds and sticks to the inflamed appendix, forming a mass in the right iliac fossa.

Answer 164

IV Fluids and IV ABx w/ Elective Appendiectomy

Answer 165

**Appendiectomy w/ IV ABx 24hrs** or Laparotomy

Answer 166

Bleeding, infection, pain and scars Small Bowel Obstruction Removal of a normal appendix Anaesthetic risks Venous thromboembolism (deep vein thrombosis or pulmonary embolism)

Answer 167

Abcess formed in the presence of appendicitis charecetrised by Swinging Fever

Answer 168

Drainage as antibiotics cannot target bacteria in abscess

Answer 169

Inflammation of the walls in the GI tract W/ periods of remission and exacerbations - Ulcerative colitis - Chrons disease

Answer 170

Crohn’s (crows NESTS) N – No blood or mucus (these are less common in Crohn's.) E – Entire GI tract S – “Skip lesions” on endoscopy T – Terminal ileum most affected and Transmural (full thickness) inflammation S – Smoking is a risk factor (don’t set the nest on fire) Crohn’s is also associated with weight loss, strictures and fistulas.

Answer 171

C – Continuous inflammation L – Limited to colon and rectum O – Only superficial mucosa affected S – Smoking is protective E – Excrete blood and mucus U – Use aminosalicylates P – Primary sclerosing cholangitis

Answer 172

Perfuse diarrhoea Abdominal pain Bleeding/ Anaemia Weight loss **Systemically unwell during flares, with fevers, malaise and dehydration**

Answer 173

Apthous Mouth Ulcers (Crohn's) Finger clubbing Erythema nodosum Pyoderma gangrenosum Episcleritis and iritis Inflammatory arthritis Primary sclerosing cholangitis (ulcerative colitis)

Answer 174

**pANCA** Type of autoantibody that target the protein myeloperoxidase (MPO) in neutrophils, a type of white blood cell. **Blood tests** Anaemia, Infection, TFT, RFT and LFT Raised CRP indicates active inflammation. **Faecal Calprotectin** Released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults. **Endoscopy (OGD and colonoscopy) with biopsy** Gold standard investigation for diagnosis of IBD. **Imaging with ultrasound, CT and MRI** Complications such as fistulas, abscesses and strictures

Answer 175

NOD-2 Mutation resulting in the release of TNF Alpha, IL1 and IL6

Answer 176

pANCA = Negative Calprotectin = Raised Endoscopy - Skip Lesions - Cobblestone Mucosa - String Sign Strictures Biopsy - Transmural Inflammation - Non Caseating Granulomas

Answer 177

Cobblestone Mucosa w/ Skip Lesions String Sign Strictures Transmural inflammation Non Caseasting Granulomas

Answer 178

**General** Right Lower Quadrant Pain Malabsorption Anaemia/ Deficiency Gall stones/ Kidney Stones Watery Diarrhoea **Extra-Intestinal** Apthous Mouth Ulcers Uveitis/ Episcleritis/ Spondyloarthropathies Erythema Nodosum Pyoderma Gangrenosum

Answer 179

**Flare Up** 1) Sulfasalazine w/ Prednisolone Severe) IV Hydrocortisone **Induce Remission** 1) Azithioprine/ Mercaptopurine 2) Methotrexate 3) Infliximab/ Ustekenumab **Surgery** Bowel Resection - Can cause Short Bowel Syndrome

Answer 180

Peri-anal Abscess - Anal gland infection Anal Fistula - Abnormal tracks from Anus Anal Strictures Small Bowel Obstruction

Answer 181

Autoimmune Inflammation of the colon Only

Answer 182

**General** Left Lower Quadrant Pain Tenesmus Fever **Extra-Intestinal** Spondyloarthropathies Uveitis/ Episcleritis Pyoderma Gangrenosum Erythema Nodosum Primary Sclerosing Cholangitis

Answer 183

pANCA = Positive Calprotectin = Raised Colonoscopy - Continuous Inflammation - Lead Pipe Sign Biopsy - Dry Mucosal Inflammation - Crypt Hyperplasia - Goblet Cell Depletion

Answer 184

Continuous Inflammation w/ Lead Pipe Sign Mucosal Inflammation Crypt Hyperplasia Goblet (Mucin) Cell Depletion

Answer 185

True Love and Witts

Answer 186

**Flare Up** 1) Sulfasalazine w/ Prednisolone Severe) IV Hydrocortisone **Induce Remission** 1) Sulfasalazine/ Mesalazine 2) Azithioprine/ Mercaptopurine 3) Methotrexate **Rescue Therapy** IV Ciclopsporin/ Infliximab **Surgery** Colectomy w/ Stoma bag

Answer 187

Dilated colon 2nd to Ulcerative Collitis where the patient does not respond to IV Steroids for 3+ days Diagnose w/ Abdominal X Ray

Answer 188

Autoimmune Type 4 Hypersensitivity reaction vs Alpha Gliadin (Gluten) Alpha Gliadin binds to IgA and interacts w/ TTG Increases the amount of... - IgA - IgA Anti TTG - IgG Anti TTG - Endomyseal Antibodies (EMA)

Answer 189

Failure to thrive/ Weight Loss Diarrhoea/ Steatorrhea Fatigue Anaemia secondary to Malabsorption Dermatitis herpetiformis Mouth Ulcers Rarely coeliac disease can present with neurological symptoms: --> Peripheral neuropathy --> Cerebellar ataxia --> Epilepsy

Answer 190

Coeliac disease as they are often linked

Answer 191

HLA-DQ2 gene (90%) HLA-DQ8 gene

Answer 192

1) Keep the patient on Gluten for the tests *2) IgA Deficient? 1st = IgG EMA* 3) **Screening Serology** - Raised anti-TTG antibodies and Total IgA (first choice) - Raised anti-endomysial antibodies - anti EMA 4) **Endoscopy and Duodenal biopsy show:** - Crypt hypertrophy w/ Villous atrophy (SPRUE Biopsy) - Epithelial Lymphocyte Infiltrate

Answer 193

Type 1 diabetes Thyroid disease Autoimmune hepatitis Primary biliary cirrhosis Primary sclerosing cholangitis Down’s syndrome

Answer 194

Vitamin deficiency Anaemia Osteoporosis Ulcerative Jejunitis Enteropathy-associated T-cell lymphoma (EATL) of the intestine Non-Hodgkin lymphoma (NHL) Small bowel adenocarcinoma (rare)

Answer 195

1) Stop Gluten 2) Replace Mineral/ Vitamin Deficiency 3) Monitor Osteoporosis w/ DEXA (Older Patient)

Answer 196

Tropical Sprue - Enteropathy w/ Tropical travel - Managed w/ Tetracycline

Answer 197

Congenital nerve cell absence of the myenteric plexus in the distant bowel and rectum --> Myenteric plexus (Auerbach's plexus) forms the enteric nervous system which is responsible for peristalsis

Answer 198

Part of the enteric nervous system and is responsible fo peristalsis of the large bowel

Answer 199

Absence of the parasympathetic ganglion cells Parasympathetic ganglion cells in the myenteric plexus do not migrate all the way down during fetal development therefore cannot initiate persistalsis Total Colonal Anganglionis The aganglionic section of the colon does not relax and causes contraction and obstruction due to absence of ganglion cells in the entire colon

Answer 200

Family history Downs syndrome

Answer 201

- Downs syndrome - Neurofibromatosis - Waardenburg syndrome (a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair) - Multiple endocrine neoplasia type II

Answer 202

Genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair associated w/ Hirschprung's

Answer 203

Acute Intestinal Obstruction Delay in passing meconium (more than 24 hours) Chronic constipation since birth Abdominal pain and distention Vomiting Poor weight gain and failure to thrive

Answer 204

Inflammation and obstruction of the intestine occurring in neonates with Hirschsprung's disease **Presentations** - Fever - Abdominal distention - Diarrhoea (+/- Blood) - Sepsis **Life Threatening** Toxic megacolon and Bowel perforation - Requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel

Answer 205

Abdominal X Ray - Intestinal Obstruction **Rectal Biopsy w/ Histology = Gold**

Answer 206

Hirschprung's Associated Enterocolitis - Initial fluid resus and management of intestinal obstruction - IV abx are required with HAEC Definite management - **Surgical removal of the aganglionic section of the bowel**

Answer 207

Bowel invaginates into itself thickening the bowel and narrowing the lumen at the folded area - Leads to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel

Answer 208

- 6 months to 2 years - Males

Answer 209

Concurrent viral illness Henoch-Schonlein purpura Cystic fibrosis Intestinal polyps Meckel diverticulum

Answer 210

Knees to chest (After eating) Severe, colicky abdominal pain Pale, lethargic and unwell child “Redcurrant jelly" stool Vomiting/ Intestinal obstruction **Right upper quadrant palpable mass (Sausage Shaped)**

Answer 211

Gold = USS - Target Sign/ Concentric (hypo) echogenic bands - Contrast Enema

Answer 212

**Therapeutic enemas** - Contrast/ water/ air are pumped into the colon to force the folded bowel out of the bowel and into the normal position. - 1st = Air Enema (Rectal Air Insufflation) - 2nd = Contrast/ Water (Hydrostatic) **Surgical reduction** - Enema Failed **Surgical Resection** - Gangrenous/ Perforated

Answer 213

Obstruction Gangrenous bowel Perforation Death

Answer 214

Congenital condition in which a **section of the bile duct is either narrowed or absent.**

Answer 215

- **Perinatal (Acquired)** - Symptoms <3 weeks post birth - **Fetal (Embryonic)** - Undeveloped Bile ducts = Earlier Symptoms

Answer 216

- Absent or narrowed bile duct results in **cholestasis** - Bile cannot be transported from the liver to the bowel - Conjugated bilirubin is excreted in the bile so prevents excretion

Answer 217

**Significant Jaundice** after birth (High Conjugated bilirubin) **Persistent jaundice** > 2 weeks **Dark Urine** (Increased Bilirubin) **Pale Stools** (Decreased Bile) **Hepatomegaly** (Increased Bile) **Splenomegaly** (Portal Hypertension) **Failure to Thrive** (Malabsorption)

Answer 218

1) Clinical Observations and Abnormal LFT's - Raised AST/ALT and Conjugated Bilirubin **Ultrasound = 1st Line Imaging** **Percutaneous Liver Biopsy = Diagnostic** **Cholangiography = Gold if Uncertain** Other - New-born blood spot test (Rule out Cystic Fibrosis) - HIDA Scan ( Lack of bile flow from liver to instetines)

Answer 219

Breast Milk Jaundice

Answer 220

**Kasai Portoenterostomy** - Removing damaged bile ducts and replacing them with a loop of intestine to allow bile to follow into the bowel **Liver Transplant** - If portoenterostomy fails **Antibiotic prophylaxis** - To prevent cholangitis

Answer 221

- Ascending Cholangitis - Portal Hypertension - Cirrhosis which can lead to HCC

Answer 222

Inflammation of the stomach

Answer 223

- Nausea and vomiting - Indigestion

Answer 224

Inflammation of the Intestines

Answer 225

Inflammation from the stomach to the intestines - Presents with nausea, vomiting and diarrhoea

Answer 226

Viral cause (Rotavirus/norovirus)

Answer 227

Establishing if they can keep themselves hydrated

Answer 228

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

Answer 229

- Rotavirus - Norovirus - Adenovirus

Answer 230

- **E.Coli** - **Campylobacter jejuni** - Shigella - Salmonella - Bacillus Cereus - Yersinia enterocoliticia - Staphylococcus Aereus toxin - Giardiasis

Answer 231

Increases the risk of the haemolytic uraemic syndrome

Answer 232

E.coli produces the **shiga toxin** Causes abdominal cramps, bloody diarrhoea and vomiting.

Answer 233

Campylobacter jejuni

Answer 234

- Raw or improperly cooked meats/ BBQ - Untreated water - Unpasteurised milk

Answer 235

Abdominal cramps Diarrhoea often with blood Vomiting Fever

Answer 236

Azithromycin Ciprofloxacin

Answer 237

Eating raw eggs/ poultry/ food contaminated with the infected faeces of small animals

Answer 238

Watery diarrhoea with mucus or blood, abdominal pain and vomiting

Answer 239

Enterotoxins - causes small intestine inflammation and causes diarrhoea, perfuse vomiting and abdominal cramps and fever

Answer 240

Microscopic parasite - Lives in the small intestine of mammals - Release cysts in the stool of infected animals - Faecal-oral transmission - Can cause chronic diarrhoea

Answer 241

Metronidazole

Answer 242

1) Isolate patient and Infection Control 2) Stool MSU 3) Maintain hydration w/ Fluid challenge orally or IV fluids High Risk? Antibiotics after determining cause Antidiarrhoeal medication is not recommended

Answer 243

Lactose intolerance Irritable bowel syndrome Reactive arthritis Guillain–Barré syndrome

Answer 244

--> poor physical growth and development in a child

Answer 245

- 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 246

- Inadequate nutritional intake - Difficulty feeding - Malabsorption - Increased energy requirements - Inability to process nutrition

Answer 247

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

Answer 248

**Poor suck**, for example, due to cerebral palsy **Cleft lip or palate / Genetic Malformation** **Pyloric stenosis**

Answer 249

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

Answer 250

Hyperthyroidism Chronic disease (congenital heart disease and cystic fibrosis) Malignancy Chronic infections (HIV or immunodeficiency)

Answer 251

Inborn errors of metabolism Type 1 diabetes

Answer 252

- Pregnancy, birth, developmental and social history - Feeding or eating history w/ Observation - Mum's physical and mental health and interaction w/ child **2 years +** - Height, weight and BMI on a growth chart - Calculate the mid-parental height centile **Inadequate Nutrition/ Growth if...** - Height more than 2 centile spaces below the mid-parental height centile - BMI below the 2nd centile

Answer 253

Urine dipstick (UTI) Coeliac screen (anti-TTG or anti-EMA antibodies) History suggestive of underlying cause

Answer 254

**MDT Approach** All children with faltering growth should have regular reviews to monitor weight gain **Breastfeeding** Support from midwives, health visitors, peers groups and “lactation consultants” Rx = Supplementational Milk w/ Breastfeeding **Dietetics** Regular Meals and Snacks Reduce milk consumption (Increase appetite) Review by a dietician Additional energy-dense foods to boost calories Nutritional supplements drinks **Severe Concerns** Enteral tube feeding. This needs to have clear goals and a defined endpoint.

Answer 255

**Abnormal pouch** on the antimesenteric side of the ileum due to **failed obliteration of the Vitellin/ Omphalomesenteric duct** +/- Ectopic Epithelia

Answer 256

2:1 Male to Female ratio 2 cm in length 2 feet proximal to caecum 2% of population

Answer 257

contains all three layers of the intestinal wall

Answer 258

Ulcers from HCI secretion Perforation Food impaction Peritonitis/Peritoneal adhesions Intussusception/ volvulus

Answer 259

**Asymptomatic** **Painless Rectal Bleeding** Abdominal pain/distention Billious Vomiting Constipation

Answer 260

Incidental (Abdo USS or CT or Surgery) **Technitium 99 scan**

Answer 261

Small fluid filled pouch @ distal small intestine

Answer 262

Surgical resection NG Tube if Acutely unwell

Answer 263

Hypersensitivity reaction vs proteins in cow's milk affeting under 3's

Answer 264

**IgE mediated** Rapid reaction to cows' milk protein **Non-IgE mediated** Slow reaction over several days **Process in non allergic and does not involve the immune system**

Answer 265

Formula fed babies History of Atopy

Answer 266

Presents **before 1 year of age** Apparent when **weaned off breast milk** Present in breastfed babies if **mother consuming dairy** **GASTRO SYMPTOMS** Bloating and wind Abdo pain/ Diarrhoea and vomiting **General allergic symptoms** Hives/ Eczema/ Facial Swelling Cough/ wheeze/ sneeze Watery eyes **Severe = Anaphylaxis**

Answer 267

Breastfeeding? **Avoid Dairy** Replace formula with **special hydrolysed formula** designed for Cow's milk allergy --> severe cases infants may require **elemental formulas made up of basic amino acids**

Answer 268

1) History and examination 2) Skin prick testing Gold = Avoiding cow's milk should fully resolve the symptoms

Answer 269

Intolerance = No Allergic Features Allergy = Allergic Features **Allergic Features** Rash, Angioedema, Sneezing and Coughing

Answer 270

RBC Breakdown Blood = Haem and Unconjugated Bilirubin Liver = Unconj. Bilirubin converted to Conjugated GI Tract/ Urine = Excretion

Answer 271

1) **High concentration of red blood cells** in the fetus and neonate - w/ fragile RBC and Less developed Liver 2) Rapid breakdown of fetal RBC = releasing lots of bilirubin 3) Jaundice 2-7 days of age, usually reoslves by 10 days If Jaundice <24hrs of birth = Pathalogy

Answer 272

**Increased production of bilirubin** - Haemolytic disease of the newborn - ABO incompatibility - Haemorrhage/ Intraventriculary Haemorrhage - Cephalo-haematoma - Polycythaemia - Sepsis and DIC - G6PD deficiency **Decreased clearance of bilirubin** - Prematurity - Breast milk jaundice - Neonatal cholestasis - Extrahepatic biliary atresia - Endocrine disorders (hypothyroid and hypopituitary) - Gilbert syndrome

Answer 273

When its presents in the first 24 hours of life - urgent investigations and management needed

Answer 274

Neonatal sepsis

Answer 275

Immature Liver

Answer 276

Kernicterus - brain damage due to the high bilirubin levels crossing B-B Barrier

Answer 277

**Components of Breastmilk** - inhibit the ability of the liver to process bilirubin **Inadequate Feeding** - Risk of Dehdration - Slow stool passage = bilirubin absoprtion in intestines

Answer 278

Haemolytic disease of the new born

Answer 279

Incompatibility between the rhesus D antigens on the surface of RBC of the mother and fetus

Answer 280

**Rhesus D Negative Mother? Assume baby is Rhesus D Positive** Baby presents D Antigen, Mother does not If baby's blood interacts w/ mother's it can cause the mother to become sensitised Sensitising the mother produces antigens vs Rhesus D in subsequent pregnancies The mother's blood now with antigens can cross placenta and target a "Positive Baby" This leads to haemolysis causing anaemia and jaundice

Answer 281

More than 14 days in full-term babies More than 21 days in premature babies

Answer 282

**FBC and blood film** (Polycythaemia or Anaemia) **Conj. Bilirubin**: Raised in Hepatobilliary disease Blood type testing (**ABO Incompatability/Rhesus**) **Direct Coombs Test** (direct antiglobulin test) for haemolysis **Thyroid function** : Hypothyroidism **Blood and urine cultures** Glucose-6-phosphate-dehydrogenase **(G6PD) levels** for G6PD deficiency

Answer 283

Monitor Bilirubin levels and plot on **threshold charts** (Gestational age @ birth) - X Axis = Age of baby - Y Axis = Total Billirubin Commence Treatment if threshold met... - Phototherapy (blue light) - Exchange transfusion

Answer 284

Brain damage caused by excessive bilirubin levels

Answer 285

1) Bilirubin crosses the blood brain barrier 2) Direct damage to the central nervous system Permanent CNS Damage? Cerebral Palsy, LD and Deafness

Answer 286

- Less responsive - Floppy/ Drowsy baby - Poor feeding

Answer 287

Constipation UTI/ Pyelonephritis Coeliac/ IBD/ IBS Mesenteric adenitis Abdominal migraine Henoch-Schonlein purpura Tonsilitis Diabetic ketoacidosis Infantile colic **Adolescent Girls** Dysmenorrhea (period pain) Mittelschmerz (ovulation pain) Ectopic pregnancy Pelvic inflammatory disease Ovarian torsion Pregnancy

Answer 288

- **Appendicitis** causes central abdominal pain spreading to the right iliac fossa - **Intussusception** causes colicky non-specific abdominal pain with redcurrant jelly stools - **Bowel obstruction** causes pain, distention, absolute constipation and vomiting - **Testicular torsion** causes sudden onset, unilateral testicular pain, nausea and vomiting

Answer 289

Persistent/ Bilious vomiting Severe chronic diarrhoea Fever Rectal bleeding Weight loss or faltering growth Dysphagia (difficulty swallowing) Night time pain Abdominal tenderness

Answer 290

**Anaemia** Inflammatory bowel disease or coeliac disease **Raised ESR/CRP** Inflammatory bowel disease **Raised anti-TTG or anti-EMA antibodies** Coeliac disease **Raised faecal calprotectin** Inflammatory bowel disease **Positive urine dipstick** Urinary tract infection

Answer 291

Self-limiting condition seen in infants less than 3 months old Bouts of excessive crying and pulling up of the legs Worse in the evening with no obvious cause

Answer 292

**Complicated UTI** Ascending Bacetrial Infection that affects the tissue of the kidney Scarring of the tissue w/ reduction in kidney function

Answer 293

Inflammation of the bladder

Answer 294

--> Could only be a fever BABIES - present non specifically - fever - lethargy - irritability - vomiting - poor feeding - urinary frequency OLDER INFANTS/CHILDREN - fever - abdo pain - suprapubic - vomiting - dysuria - urinary frequency - incontinence

Answer 295

A temperature greater than 38°C Loin pain or tenderness

Answer 296

Clean catch sample - **Straight into bottle** - Urine Collection Pad> Bag - In and Out Catheter - Suprapubic Aspiration

Answer 297

**Nitrites** Gram-negative bacteria (such as E. coli) break down nitrates, a normal waste product in urine, into nitrites. The presence of nitrites suggest bacteria in the urine. **Leukocytes** White blood cells found in the urine. A urine dipstick tests for **leukocyte esterase**, a product of leukocytes that give an indication about the number of leukocytes in the urine. Nitrites ++ Leukocytes ++ = UTI Nitrites ++ = UTI Leukocytes ++ = Non UTI unless Clincial

Answer 298

1) Urine dipstick 2) MSU sample to the microbiology lab to be cultured and have sensitivity testing.

Answer 299

**Less Than 3 Months** Immediate IV antibiotics (Ceftriaxone) w/ full septic screen Consider Lumbar Puncture **Older Than 3 Months** Sepsis/ Pyelonephritis? IV Antibiotics Systemically well? Oral Antibiotics - Trimethoprim - Nitrofurantoin - Cefalexin - Amoxicillin

Answer 300

1) Ultrasound Scans - <6 Months w/ 1st UTI <6 weeks of infection - Any child w/ Recurrent UTI while infected - Any child w/ Atypical UTI while infected Other - DMSA scans - kidney damage/scaring - MAG - Visualise Reflux - MCUG - Micturating Cystourethrogram

Answer 301

nocturnal enuresis - unable to control bladder at night Diurnal enuresis - unable to control the bladder function during the day

Answer 302

Primary nocturnal enuresis - The child has never managed to be consistently dry Secondary nocturnal enuresis - Child begins to wet themselves when they have previously been dry for at least 6 months

Answer 303

--> variation of normal development especially if the child is less than 5 years old - most common --> Overactive bladder. Frequent small-volume urination prevents the development of bladder capacity. --> Fluid intake prior to bedtime, particularly fizzy drinks, juice and caffeine, which can have a diuretic effect --> Failure to wake due to particularly deep sleep and underdeveloped bladder signals --> Psychological distress, for example, low self-esteem, too much pressure or stress at home or school --> Secondary causes such as chronic constipation, urinary tract infection, learning disability or cerebral palsy

Answer 304

--> 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 and positive reinforcement. Avoid blame or shame. Punishment should very much be avoided. --> Treat any underlying causes or exacerbating factors, such as constipation --> Enuresis alarms --> Pharmacological treatment - Desmopressin - analogue of ADH, oxybutynin - anticholinergic (reduces contractility) and imipramine - TCA

Answer 305

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

Answer 306

treating the underlying cause e.g constipation/UTI easy to treat

Answer 307

--> Urge incontinence is an overactive bladder that gives little warning before emptying --> Stress incontinence describes leakage of urine during physical exertion, coughing or laughing.

Answer 308

Recurrent urinary tract infections Psychosocial problems Constipation

Answer 309

--> basement membrane becomes highly permeable to protein, allowing proteins to leak from the blood into the urine

Answer 310

2 to 5 years

Answer 311

Frothy urine generalised oedema pallor

Answer 312

--> Low serum albumin --> High urine protein content - >3+ protein on urine dipstick --> oedema

Answer 313

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 314

--> minimal change disease, causing over 90% of cases in children under 10. In minimal change disease, the nephrotic syndrome occurs in isolation, without any clear underlying condition or pathology. There are a number of secondary causes of nephrotic syndrome, where it occurs due to an underlying condition. --> can be secondary to intrinsic kidney disease - focal segmental glomerulosclerosis/ membranoproliferative glomerulonephritis --> Can also be secondary to an underlying illness - HSP/diabetes/infection - HIV, Malaria, hepatitis

Answer 315

not able to detect abnormality

Answer 316

small molecular weight proteins hyaline casts

Answer 317

--> Corticosteroids (Prednisolone)

Answer 318

The prognosis is good and most children make a full recovery, however it may reoccur.

Answer 319

--> High-dose steroids (i.e. prednisolone) --> Low salt diet --> Diuretics may be used to treat oedema --> Albumin infusions may be required in severe hypoalbuminaemia --> Antibiotic prophylaxis may be given in severe cases --> High-dose steroids are given for 4 weeks and then gradually weaned over the next 8 weeks: --> 80% of children will respond to steroids and are referred to as steroid sensitive --> 80% of steroid-sensitive patients will relapse at some point and need further steroids --> Patients that struggle to wean steroids due to relapses are referred to as steroid dependant --> Patients that do not respond to steroids are referred to as steroid-resistant In steroid-resistant children, ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab may be used.

Answer 320

--> 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 321

Congenital condition affecting males where the urethral meatus is abnormally displaced to the ventral side of the penis towards the scrotum

Answer 322

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. Epispadias is where the meatus is displaced to the dorsal side (top side) of the penis.

Answer 323

Hypospadias requires referral to a paediatric specialist urologist for ongoing management. It is important to warn parents not to circumcise the infant until a urologist indicates this is ok. Mild cases may not require any treatment Surgery is usually performed after 3 – 4 months of age Surgery aims to correct the position of the meatus and straighten the penis

Answer 324

Difficulty directing urination Cosmetic and psychological concerns Sexual dysfunction

Answer 325

--> Thrombosis in small blood vessels throughout the body --> Triggered by a bacterial toxin called Shiga toxin --> leads to a triad of symptoms: Haemolytic anaemia: anaemia caused by red blood cells being destroyed Acute kidney injury: failure of the kidneys to excrete waste products such as urea Thrombocytopenia: low platelet count

Answer 326

toxin produced by the e. coli 0157 bacteria, called the shiga toxin. Shigella also produces this toxin. The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.

Answer 327

The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.

Answer 328

E. coli 0157 causes brief gastroenteritis, often with bloody diarrhoea. The symptoms of haemolytic uraemic syndrome typically start around 5 days after the onset of the diarrhoea. Signs and symptoms of HUS may include: Reduced urine output Haematuria or dark brown urine Abdominal pain Lethargy and irritability Confusion Oedema Hypertension Bruising

Answer 329

HUS is a medical emergency and has a 10% mortality. It needs to be managed by experienced paediatricians under the guidance of a renal specialist. The condition is self-limiting and supportive management is the mainstay of treatment: Urgent referral to the paediatric renal unit for renal dialysis if required Antihypertensives if required Careful maintenance of fluid balance Blood transfusions if required 70 to 80% of patients make a full recovery.

Answer 330

undescended testes

Answer 331

in the abdomen

Answer 332

through the inguinal canal into the scrotum

Answer 333

prior to birth

Answer 334

testicular torsion infertility testicular cancer

Answer 335

Family history of undescended testes Low birth weight Small for gestational age Prematurity Maternal smoking during pregnancy

Answer 336

Watching and waiting is appropriate in newborns. In most cases the testes will descend in the first 3 – 6 months. If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.

Answer 337

twisting of the spermatic cord with rotation of the testicle - urological emergency and delay in treatment increases the risk of ischaemia and necrosis of the testicle - leading to infertility

Answer 338

Teenage boy - can occur at any age

Answer 339

activity - usually sports

Answer 340

--> Acute rapid onset --> unilateral testicular pain --> may be associated with abdo pain and vomiting --> Sometimes vomiting is the only sign

Answer 341

Firm swollen testicle Elevated (retracted) testicle Absent cremasteric reflex Abnormal testicular lie (often horizontal) Rotation, so that the epididymis is not in the normal posterior position

Answer 342

Testicular torsion is a urological emergency, and there is an urgent requirement for treatment. Any delay in treatment will prolong the ischaemia and reduce the chances of saving the testicle. The management of testicular torsion involves: Nil by mouth, in preparation for surgery Analgesia as required Urgent senior urology assessment Surgical exploration of the scrotum Orchiopexy (correcting the position of the testicles and fixing them in place) Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis

Answer 343

Ultrasound can show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.

Answer 344

development of secondary sexual characteristics before 8 years in females and 9 years in males

Answer 345

first stage of breast development

Answer 346

first stage of pubic hair development

Answer 347

--> Gonadotrophin dependant/central --> Gonadotrophin independant/ pseudo/ false

Answer 348

due to premature activation of the hypothalamic-pituitary-gonadal axis FSH & LH raised

Answer 349

Gonadotrophin independent ('pseudo', 'false') due to excess sex hormones FSH & LH low

Answer 350

bilateral enlargement = gonadotrophin release from an intracranial lesion unilateral enlargement = gonadal tumour small testes = adrenal cause (tumour or adrenal hyperplasia)

Answer 351

usually idiopathic or familial and follows normal sequence of puberty

Answer 352

are rare, associated with rapid onset, neurological symptoms and signs and dissonance e.g. McCune Albright syndrome

Answer 353

The child is born with an underactive thyroid gland

Answer 354

--> Underdeveloped thyroid gland (dysgenesis) --> Fully developed thyroid gland that does not produce enough hormone (dyshormonogenesis) --> rarely from problems with the pituitary or hypothalamus

Answer 355

Newborn blood spot screening test

Answer 356

Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development

Answer 357

Acquired hypothyroidism is where a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.

Answer 358

autoimmune thyroiditis, also known as Hashimoto’s thyroiditis.

Answer 359

causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland. It is associated with antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies. There is an association with other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

Answer 360

Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss

Answer 361

Investigations include full thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.

Answer 362

Levothyroxine orally once a day is used to replace the normal thyroid hormones. Doses are titrated based on thyroid function tests and symptoms.

Answer 363

Acquired hypothyroidism Congenital hypothyroidism

Answer 364

Cause of delayed puberty secondary to hypogonadotropic hypogonadism, it is an X-linked recessive genetic disorder. | pudiyana this penchondes a tough one

Answer 365

Failure of GnRH-secreting neurones migrating to the hypothalamus from olfactory placode

Answer 366

-->'delayed puberty' --> hypogonadism, cryptorchidism --> anosmia --> Sex hormone levels are low --> LH, FSH levels are inappropriately low/normal --> Patients are typically of normal or above-average height Cleft lip/palate and visual/hearing defects are also seen in some patients

Answer 367

testosterone supplementation gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Answer 368

Congenital deficiency of the 21-hydroxylase enzyme which causes underproduction of cortisol and aldosterone and overproduction of androgens A genetic condition that is inherited as autosomal recessive pattern

Answer 369

Androgen - Testosterone hormone. It is found in high levels in men and low levels in women. It acts to promote male sexual characteristics. Glucocorticoid hormones act to help the body deal with stress, raise blood glucose, reduce inflammation and suppress the immune system. Cortisol is the main glucocorticoid hormone. The level of cortisol fluctuates during the day, with higher levels in the morning and during times of stress. It is released in response to adrenocorticotropic hormone (ACTH) from the anterior pituitary. Mineralocorticoid hormones act on the kidneys to control the balance of salt and water in the blood. Aldosterone is the main mineralocorticoid hormone. It is released by the adrenal gland in response to renin. Aldosterone acts on the kidneys to increase sodium reabsorption into the blood and increase potassium secretion into the urine. Therefore, aldosterone acts to increase sodium and decrease potassium in the blood.

Answer 370

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 371

Female patients with CAH usually present at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels. Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia. This leads to signs and symptoms: Poor feeding Vomiting Dehydration Arrhythmias

Answer 372

Patients who are less severely affected present during childhood or after puberty. Their symptoms tend to be related to high androgen levels. Female patients: Tall for their age Facial hair Absent periods Deep voice Early puberty Male patients: Tall for their age Deep voice Large penis Small testicles Early puberty

Answer 373

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.

Answer 374

Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency Aldosterone replacement, usually with fludrocortisone Female patients with “virilised” genitals may require corrective surgery

Answer 375

The X-linked recessive condition causing end-organ resistance to testosterone causing genotypically male children to have female phenotypes

Answer 376

'primary amenorrhoea' little or no axillary and pubic hair undescended testes causing groin swellings breast development may occur as a result of the conversion of testosterone to oestradiol

Answer 377

buccal smear or chromosomal analysis to reveal 46XY genotype after puberty, testosterone concentrations are in the high-normal to the slightly elevated reference range for postpubertal boys

Answer 378

counselling - raise the child as female bilateral orchidectomy (increased risk of testicular cancer due to undescended testes) oestrogen therapy

Answer 379

Lifestyle choices growth hormone deficiency hypothyroidism Down's syndrome Cushing's syndrome Prader-Willi syndrome

Answer 380

--> orthopaedic problems: slipped upper femoral epiphyses, Blount's disease (a --development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains --> psychological consequences: poor self-esteem, bullying --> sleep apnoea --> benign intracranial hypertension --> long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease

Answer 381

Systemic medium-sized vessel vasculitis

Answer 382

Young children - typically under 5 years Most common in Asian children - Japanese and Korean children Boys

Answer 383

No Clear cause or trigger

Answer 384

coronary artery aneurysm

Answer 385

Persistent high fever (above 39) for more than 5 days Unhappy and unwell children Widespread erythematous maculopapular rash Desquamation of the palms and soles Strawberry tongue Cracked lips cervical lymphadenopathy Bilateral conjunctivitis

Answer 386

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 387

--> Acute phase: The child is most unwell with a 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 388

There are two first-line medical treatments given to patients with Kawasaki disease: High-dose aspirin to reduce the risk of thrombosis IV immunoglobulins to reduce the risk of coronary artery aneurysms Patients will need close follow-up with echocardiograms to monitor for evidence of coronary artery aneurysms.

Answer 389

Reyes syndrome

Answer 390

--> Prodromal phase - irritable, conjunctivitis, fever --> Koplik spots - before the rash and white spots (grain of salt) on the buccal mucosa --> The rash starts behind the ears and spreads - 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 391

otitis media: the most common complication pneumonia: the most common cause of death

Answer 392

mainly supportive admission may be considered in immunosuppressed or pregnant patients notifiable disease → inform public health

Answer 393

if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection) this should be given within 72 hours

Answer 394

Varicella zoster virus VZV

Answer 395

--> widespread, erythematous, raised, vesicular (fluid filled), blistering lesions - starts on the trunk or face and spreads outwards affecting the whole body over 2 – 5 days. Eventually the lesions scab over, at which point they stop being contagious. --> Fever is the first symptom --> itch --> general fatigue

Answer 396

--> Chickenpox is highly contagious --> spreads through direct contact with the lesions, through infected droplets, from a cough or wheeze --> patients become symptomatic 10days to 3 weeks after exposure --> they stop being infectious once the lesions have crusted over

Answer 397

--> Bacterial superinfection --> Dehydration --> Conjunctival lesions --> Pneumonia --> Encephalitis (presenting as ataxia) --> After the infection the virus can lie dormant in the sensory dorsal root ganglion cells and cranial nerves reactivate later in life as shingles or Ramsay Hunt syndrome.

Answer 398

Can be given varicella zoster immunoglobulins

Answer 399

Congenital varicella syndrome - developmental problems in the fetus in a small portion of patients

Answer 400

life threatening neonatal infection and is treated with varicella zoster immunoglobulins and aciclovir

Answer 401

--> Chickenpox is usually mild self-limiting condition that does not require treatment in otherwise healthy children --> aciclovir - immunocompromised, adults and adolescents over 14 years presenting within 24 hours, neonates or those at risk of complications. --> Complications such as encephalitis require admission for inpatient management. --> Symptoms of itching can be treated with calamine lotion and chlorphenamine (antihistamine).

Answer 402

--> until all the lesions are dry and crusted over. This is usually around 5 days after the rash appears.

Answer 403

Is an upper respiratory tract infection caused by bordetella pertussis (Gram negative)

Answer 404

coughing fits are so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sound as they forcefully suck in air after the coughing finishes.

Answer 405

Children and pregnant women

Answer 406

--> starts with mild coryzal symptoms, a low-grade fever and possibly a mild dry cough. --> More severe coughing fits start after a week or more. These involve sudden and recurring attacks of coughing with cough-free periods in between. This is described as a paroxysmal cough. Coughing fits are severe and keep building until the patient is completely out of breath --> Patient typically produces a large, loud inspiratory whoop when the coughing ends. Patients can cough so hard they faint, vomit or even develop a pneumothorax. --> infants with pertussis may present with apnoeas

Answer 407

--> A nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis within 2 to 3 weeks of the onset of symptoms. --> Where the cough has been present for more than 2 weeks patients can be tested for the anti-pertussis toxin immunoglobulin G. This is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.

Answer 408

--> Pertussis is a notifiable disease. Therefore Public Health need to be notified of each case. --> Management typically involves simple supportive care. Vulnerable or acutely unwell patients, those under 6 months and patients with apnoeas, cyanosis or patients with severe coughing fits may need to be admitted. Measures to prevent spread are important --> Macrolide antibiotics such as azithromycin, erythromycin and clarithromycin can be beneficial in the early stages (within the first 21 days) or vulnerable patients. Co-trimoxazole is an alternative to macrolides. --> Close contacts with an infected patient are given prophylactic antibiotics if they are in a vulnerable group, --> The symptoms typically resolve within 8 weeks, however they can last several months. It is also known as the “100-day cough"

Answer 409

Bronchiectasis

Answer 410

inflammation of the brain

Answer 411

autoimmune

Answer 412

--> HSV - human simplex virus - most common --> VZV - chicken pox/ cytomegalovirus - immunodeficiency/ Epstein-Barr virus associated with infectious mononucleosis/ enterovirus, adenovirus and influenza virus. --> It is important to ask about vaccinations, as polio, mumps, rubella and measles viruses can cause encephalitis as well.

Answer 413

HSV - In children the most common cause is herpes simple type 1 (HSV-1) from cold sores. In neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

Answer 414

--> Altered consciousness --> Altered cognition --> Unusual behaviour --> Acute onset of focal neurological symptoms --> Acute onset of focal seizures --> Fever

Answer 415

--> Lumbar puncture, sending cerebrospinal fluid for viral PCR testing --> CT scan if a lumbar puncture is contraindicated --> MRI scan after the lumbar puncture to visualise the brain in detail --> EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs --> HIV testing is recommended in all patients with encephalitis --> Contraindications to a lumbar puncture include a GCS below 9, haemodynamically unstable, active seizures or post-ictal.

Answer 416

--> Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV) --> Ganciclovir treat cytomegalovirus (CMV) -->Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals Aciclovir is usually started empirically in suspected encephalitis until results are available. Other viral causes have no effective treatment and management is supportive. Followup, support and rehabilitation is required after encephalitis, with help managing the complications.

Answer 417

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 418

superficial bacterial skin infection, caused by staphylococcus aureus bacteria

Answer 419

Staphylococcus aureus bacterial infection of the skin

Answer 420

a golden crust on the skin

Answer 421

Impetigo is contagious and children should be kept of school during the infection

Answer 422

Non-bullous and bullous impetigo

Answer 423

occurs around the nose and mouth and the exudate from the lesions dries to form a golden crust and are often unsightly but do not cause systemic symptoms or make the person unwell

Answer 424

antiseptic cream - hydrogen peroxide cream first line for localised infection Topical fusidic acid for localised non-bullous impetigo Oral flucloxacillin - treats more widespread or severe impetigo, flucoxacillin is the abx of choice for all staph infections

Answer 425

staphylococcus aureus bacteria can produce epidermolytic toxins that break down the proteins that hold skin cells together. This causes 1 – 2 cm fluid-filled vesicles to form on the skin. These vesicles grow in size and then burst, forming a “golden crust”. Eventually, they heal without scarring. These lesions can be painful and itchy. It is more common for patients to have systemic symptoms. They may be feverish and generally unwell. In severe infections when the lesions are widespread, it is called staphylococcus scalded skin syndrome.

Answer 426

neonates and children under 2 years

Answer 427

Treatment of bullous impetigo is with antibiotics, usually flucloxacillin. This may be given orally or intravenously if they are very unwell or at risk of complications. The condition is very contagious and patients should be isolated where possible.

Answer 428

Impetigo usually responds well to treatment without any long-term adverse effects. Rarely there can be complications: Cellulitis if the infection gets deeper into the skin Sepsis Scarring Post streptococcal glomerulonephritis Staphylococcus scalded skin syndrome Scarlet fever

Answer 429

Oral thrush - caused by an overgrowth of candida - fungus in the mouth - white spots or patches on the tongue or pallate

Answer 430

Inhaled corticosteroids (particularly with poor technique, not using a spacer and not rinsing with water afterwards) Antibiotics (disrupt the normal bacterial flora giving candida a chance to thrive) Diabetes Immunodeficiency (consider HIV) Smoking

Answer 431

Miconazole gel Nystatin suspension Fluconazole tablets (in severe or recurrent cases)

Answer 432

Group A haemolytic streptococci - Streptococcus pyogenes

Answer 433

It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.

Answer 434

--> Fever: typically lasts 24 to 48 hours --> Malaise, headache, nausea/vomiting --> sore throat --> 'strawberry' tongue --> rash - fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles/ children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures/ it is often described as having a rough 'sandpaper' texture/ desquamation occurs later in the course of the illness, particularly around the fingers and toes

Answer 435

--> A throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results

Answer 436

Oral penicillin V for 10 days if Pen allergy then azithromycin Children can return to school 24 hours after commencing antibiotics Notifiable disease

Answer 437

--> Otitis media: the most common complication --> Rheumatic fever: typically occurs 20 days after infection --> Acute glomerulonephritis: typically occurs 10 days after infection --> invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with a life-threatening illness

Answer 438

--> Coxsackie A virus

Answer 439

--> starts as a typical URTI - tiredness, sore throat, dry cough, raised temperature --> 1-2 days later small mouth ulcers appear followed by blistering red spots across the body --> most notably on the hands, foot and mouth --> painful mouth ulcers on the tongue are also a key feature - may be itchy/

Answer 440

--> Clinical diagnosis of how the rash looks --> No treatment - just supportive - rash and illness should resolve spontaneously in 7-10 days --> highly contagious

Answer 441

Complications are rare Dehydration Bacterial superinfection Encephalitis

Answer 442

For most severe conditions causing immunodeficiency, children with SCID have almost no immunity to infections, caused by a number of different genetic disorders, resulting in absent or dysfunctional B and T cells.

Answer 443

Persistent severe diarrhoea Failure to thrive Opportunistic infections that are more frequent or severe than in healthy children, for example severe and later fatal chickenpox, Pneumocystis jiroveci pneumonia and cytomegalovirus Unwell after live vaccinations such as the BCG, MMR and nasal flu vaccine

Answer 444

More than 50% of cases are caused by mutations in the common gamma chain on the X chromosome that codes for interleukin receptors on T and B cells. This has X-linked recessive inheritance. There are many other gene mutations that can lead to SCID including: JAC3 gene mutations Mutations leading to adenosine deaminase deficiency

Answer 445

Management involves treating underlying infections, immunoglobulin therapy, minimising the risk of new infections with a sterile environment, avoiding live vaccines and performing haematopoietic stem cell transplantation.

Answer 446

inflammation of the meninges, caused by either bacterial to viral infection

Answer 447

meningococcus (Neisseria meningitis) bacterial infection in the bloodstream - causes a non-blanching rash - caused by the infection leading to Disseminated intravascular coagulopathy and subcutaneous haemorrhages.

Answer 448

Bacteria is infecting the meninges and the cerebrospinal fluid around the brain and spinal cord

Answer 449

Neisseria meningitidis (meningococcus) and Streptococcus pneumoniae (pneumococcus).

Answer 450

in neonates the most common cause is group B strep (GBS), GBS is usually contracted during birth from the mothers vag

Answer 451

--> Typical symptoms - fever/ neck stiffness/ vomiting/ headache/ photophobia/ altered consciousness and seizures. Where there is meningococcal septicaemia children can present with a non-blanching rash. Other causes of bacterial meningitis do not usually cause the non-blanching rash. --> Neonates and babies can present with very non-specific signs and symptoms, such as hypotonia, poor feeding, lethargy, hypothermia and a bulging fontanelle. NICE recommend a lumbar puncture as part of the investigations for 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 452

Kernig’s test involves lying the patient on their back, flexing one hip and knee to 90 degrees and then slowly straightening the knee whilst keeping the hip flexed at 90 degrees. This creates a slight stretch in the meninges. Where there is meningitis it will produce spinal pain or resistance to movement. Brudzinski’s test involves lying the patient flat on their back and gently using your hands to lift their head and neck off the bed and flex their chin to their chest. In a positive test this causes the patient to involuntarily flex their hips and knees.

Answer 453

LP: L3 - L4 Bacterial: high protein, low glucose, high neutrophils Viral: normal protein, normal glucose, high lymphocytes TB: high protein, low glucose, high lymphocytes –> Blood culture –> throat swabs - bacterial and viral

Answer 454

Community: Immediate IM or IV Benzylpenicillin Withhold treatment if true penicillin anaphylaxis, priority is transfer. Hospital: Ideally blood cultures and LP should be done, but do not delay treatment if acutely unwell. Under 3 months - IV cefotaxime and amoxicillin - covers listeria contracted during preg Above 3 months - IV Ceftriaxone. Add IV Vancomycin in recent travellers Prophylaxis: Contact in the last 7 days. A single dose of Oral Ciprofloxacin or Rifampicin (except in pregnancy). Corticosteroids - Oral dexamethasone to reduce cerebral oedema and complications (hearing loss, neurological damage). 4 times daily for 4 days to children over 3 months. Viral meningitis - LP can be done, usually self-limiting. Acyclovir may be used in HSV or VZV meningitis.

Answer 455

Bacterial - cloudy Viral - clear

Answer 456

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

Answer 457

infection of the middle ear - space between the tympanic membrane and the inner ear. This is where the cochlea, vestibular apparatus and nerves are found

Answer 458

Through the eustachian tube, a bacterial infection of the middle ear is usually preceded by a Viral URTI

Answer 459

Streptococcus pneumoniae - most common Haemophilus influenzae Moraxella catarrhalis Staphylococcus aureus

Answer 460

--> ear pain, reduced hearing, fever, cough, coryzal symptoms, sore throat --> Vertigo if the infection affects the vestibular system --> If the tympanic membrane has been ruptured then can be discharged --> non-specific, particularly in young children and infants. They may present with symptoms of fever, vomiting, irritability, lethargy or poor feeding. It is always worth examining the ears in unwell children.

Answer 461

--> otoscope - pinna up and back, the tympanic membrane should be pearly grey, translucent and slightly shiny --> Otitis media - bulging, red, inflamed-looking membrane, can be perforation too. loss of light reflex

Answer 462

--> Consider referral to paediatrics for assessment or admission if symptoms are severe or there is diagnostic doubt. Always refer for specialist assessment and to consider admission in infants younger than 3 months with a temperature above 38ºC or 3 – 6 months with a temperature higher than 39ºC. --> Most cases resolve without analgesia and can use simple analgesia --> Consider prescribing antibiotics at the initial presentation in patients who have significant co-morbidities, are systemically unwell or are immunocompromised. Children less than 2 years with bilateral otitis media and children with otorrhoea (discharge) are more likely to benefit from antibiotics. -->Consider a delayed prescription that can be collected and used after 3 days if symptoms have not improved or have worsened at any time. This can be useful with patients that are very keen on antibiotics or where you suspect they might get worse. --> The first line choice of antibiotic is amoxicillin for 5 days. Alternatives are erythromycin and clarithromycin

Answer 463

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

Answer 464

known as otitis media with effusion, middle ear becomes full of lfuid and causes a loss of hearing in that ear

Answer 465

The eustachian tube can become blocked

Answer 466

reduction of hearing in the affected ear

Answer 467

otitis media

Answer 468

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

Answer 469

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 470

Grommets are tiny tubes inserted into the tympanic membrane by an ENT surgeon. This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal. Usually, grommets are inserted under general anaesthetic as a day-case procedure. The procedure is relatively safe with few complications. Grommets usually fall out within a year, and only 1 in 3 patients require further grommets to be inserted for persistent glue ear.

Answer 471

A chronic atopic condition caused by defects in the moral continuity of the skin barrier leading to inflammation of the skin

Answer 472

dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck. Patients with eczema experience periods where the condition is well controlled and periods where the eczema is more problematic, known as flares.

Answer 473

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.

Answer 474

--> Maintenance and management of flares --> Emollients - to compensate for the defective skin barrier --> Avoid activities that break down the skin barrier --> flares - thicker emollients, topical steroids, wet wraps, rarely steroids or IV antibiotics --> Specialist treatment - zinc bandages, topical tacrolimus, phototherapy, systemic immunosuppressants e.g corticosteroids, methotrexate and azathioprine.

Answer 475

--> Thinning of the skin --> can result in telangiectasia

Answer 476

--> Staphylococcus aureus

Answer 477

--> viral skin infection caused by the herpes simplex virus - most common (associated with cold sores) or the varicella-zoster virus --> patients with pre-existing skin conditions - atopic eczema and dermatitis where the virus is able to enter the skin

Answer 478

--> widespread painful, vesicular rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake, there will usually be lymphadenopathy

Answer 479

--> widespread --> erythematous, painful and itchy --> vesicles containing pus --> after they burst leave a small punched out ulcer with a red base

Answer 480

--> viral swabs of the vesicles to confirm the diagnoses - although treatment usually started before --> aciclovir - more severe cases IV aciclovir

Answer 481

--> can be life-threatening if the patient is immunocompromised --> bacterial superinfection

Answer 482

--> same pathology --> Immune response causes epidermal necrosis --> results in blistering and shedding of the top layer of skin --> SJS affects less than 10% of the body surface area and TEN affects more than 10% of the body surface area

Answer 483

Certain HLA genetic types are at higher risk of SJS and TEN

Answer 484

Medications Anti-epileptics Antibiotics Allopurinol NSAIDs Infections Herpes simplex Mycoplasma pneumonia Cytomegalovirus HIV

Answer 485

--> Spectrum of severity. Some cases are mild whilst others are very severe and can potentially be fatal. --> Start with non-specific symptoms of fever, cough, sore throat, sore mouth, sore eyes and itchy skin. They then develop a purple or red rash that spreads across the skin and starts to blister. --> A few days after the blistering starts, the skin starts to break away and shed leaving the raw tissue underneath. Pain, erythema, blistering and shedding can also happen to the lips and mucous membranes. Eyes can become inflamed and ulcerated. It can also affect the urinary tract, lungs and internal organs.

Answer 486

--> medical emergency --> Good supportive care is essential, including nutritional care, antiseptics, analgesia and ophthalmology input. --> Treatment options include steroids, immunoglobulins and immunosuppressant

Answer 487

--> 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 488

--> condition caused by an IgE mediated type 1 hypersensitivity reaction --> environmental allergens cause an allergic inflammatory response in the nasal mucosa --> very common and can affect sleep, mood, hobbies and work and QOL

Answer 489

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

Answer 490

Runny, blocked and itchy nose Sneezing Itchy, red and swollen eyes

Answer 491

--> personal or family history of other allergic conditions - atopy

Answer 492

Diagnosis is usually made based on history. Skin prick testing can be useful, particularly testing for pollen, animals and house dust mite allergy.

Answer 493

--> 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 494

--> avoid triggers --> oral antihistamines - cetrizine, loratadine and fexofenadine (non-sedating). chlorophenamine and promethazine are sedating --> nasal antihistamines - good for rapid onset symptoms --> referral to immunologist if still unmanageable

Answer 495

--> also known as hives --> small itchy bumps that appear on the skin --> associated with patchy erythematous rash --> may be associated with angiodema and flushing of the skin --> can be acute or chronic

Answer 496

-> Urticaria is caused from the release of histamine and other pro-inflammaotry chemicals from mast cells in the skin --> may be part of an allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria

Answer 497

Acute urticaria is 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 498

is an autoimmune condition where autoantibodies target the mast cells and trigger them to release histamines and other chemicals

Answer 499

Chronic idiopathic urticaria Chronic inducible urticaria Autoimmune urticaria

Answer 500

describes recurrent episodes of chronic urticaria without a clear underlying cause or trigger.

Answer 501

--> describes episodes of chronic urticaria that can be induced by certain triggers e.g - sunlight, temp change, exercise, strong emotions, hot or cold weather, pressure

Answer 502

chronic urticaria associated with an underlying autoimmune condition, such as systemic lupus erythematosus.

Answer 503

Antihistamines are the main treatment for urticaria. Fexofenadine is usually the antihistamine of choice for chronic urticaria. Oral steroids may be considered as a short course for severe flares. In very problematic cases referral to a specialist may be required to consider treatment with: Anti-leukotrienes such as montelukast Omalizumab, which targets IgE Cyclosporin

Answer 504

--> life-threatening medical emergency. It is caused by a severe 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 a compromise of the airway, breathing or circulation.

Answer 505

Patients present with a history of exposure to an allergen (although it can be idiopathic). There will be a rapid onset of 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 --> Lightheadedness --> Collapse

Answer 506

Initial assessment of the acutely unwell child is with an ABCDE approach, assessing and treating: A – Airway: Secure the airway B – Breathing: Provide oxygen if required. Salbutamol can help with wheezing. C – Circulation: Provide an IV bolus of fluids D – Disability: Lie the patient flat to improve cerebral perfusion E – Exposure: Look for flushing, urticaria and angioedema Once a diagnosis of anaphylaxis is established, there are three medications given to treat the reaction: Intramuscular adrenalin, repeated after 5 minutes if required Antihistamines, such as oral chlorphenamine or cetirizine Steroids, usually intravenous hydrocortisone

Answer 507

--> period of observation in the paediatric ward - as a biphasic reaction can occur later --> Anaphylaxis can be confirmed by measuring the serum mast cell tryptase within 6 hours of the event - tryptase released during mast cell degradation --> Education on adrenalin auto-injector and basic life support

Answer 508

Bleeding under the skin

Answer 509

Small, non - blanching red spots on the skin caused by burst capillaries

Answer 510

Larger, non-blanching, red-purple macules or papules created by leaking of blood from the vessels under the skin

Answer 511

Meningococcal septicaemia or other bacterial sepsis: This presents with a feverish unwell child. Any features of meningococcal septicaemia indicate emergency management with immediate antibiotics. This can lead to significant morbidity and mortality if treatment is delayed. Henoch-Schonlein purpura (HSP): This typically presents as a purpuric rash on the legs and buttocks and may have associated abdominal or joint pain. Idiopathic thrombocytopenic purpura (ITP): This develops over several days in an otherwise well child. Acute leukaemias: This presents with a gradual development of petechiae, potentially with other signs such as anaemia, lymphadenopathy and hepatosplenomegaly. Haemolytic uraemic syndrome (HUS): This is associated with oliguria (very low urine output) and signs of anaemia. This often presents in a child with recent diarrhoea. Mechanical: Strong coughing, vomiting or breath holding can produce petechiae in a “superior vena cava distribution”, above the neck and most prominently around the eyes. Traumatic: Tight pressure on the skin, for example in non-accidental injury, or occlusion of blood in an area of skin can lead to traumatic petechiae. Viral illness: This is often the explanation when other causes and serious illness are excluded. Typical causes are influenza and enterovirus.

Answer 512

--> Full blood count: Anaemia can suggest HUS or leukaemia. Low white cells can suggest neutropenic sepsis or leukaemia. Low platelets can suggest ITP or HUS. --> Urea and electrolytes: High urea and creatinine can indicate HUS or HSP with renal involvement. --> C-reactive protein (CRP): This is a non-specific indication of inflammation or infection and can be useful but not definitive in excluding sepsis. --> Erythrocyte sedimentation rate (ESR): This is a non-specific indication of inflammatory illness such as a vasculitis (HSP) or infection. --> Coagulation screen, including PT, APTT, INR and fibrinogen can diagnose clotting abnormalities. --> Blood culture: This can be useful but not definitive in diagnosing or excluding sepsis. --> Meningococcal PCR: This can confirm meningococcal disease, although this should not delay treatment. --> Lumbar puncture: To diagnose meningitis or encephalitis. --> Blood pressure: Hypertension can occur in HSP and HUS. Hypotension can occur in septic shock. --> Urine dipstick: Proteinuria and haematuria can suggest HSP with renal involvement, or HUS.

Answer 513

Low levels of haemoglobin in the blood Result of an underlying disease

Answer 514

--> Physiologic anaemia of injury - most common --> Anaemia of prematurity --> blood loss --> Haemolysis (ABO or rhesus incompatibility/ hereditary spherocytosis/ G6PD deficiency) --> twin-twin transfusion - where blood is unequally distributed between twins that share a placenta

Answer 515

--> normal dip in Hb around 6 to 9 weeks in healthy term babies --> High oxygen delivery to the tissues by the high haemoglobin levels at birth causes negative feedback --> erythropoietin production by the kidneys is suppressed and reduced production of Hb by bone marrow --> High oxygen results in lower Hb production

Answer 516

--> 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 517

cause of haemolysis and jaundice in neonates

Answer 518

incompatibility between the rhesus antigens on the surface of red blood cells of the mother and fetus - the most important rhesus D antigen

Answer 519

--> Women who is rhesus D negative and pregnant, have to consider the possibility of the fetus being rhesus D positive --> likely at some point in pregnancy that the blood from the fetus will find a way into her bloodstream --> When this happens the mother's immune system recognises the rhesus D antigen as foreign and produces antibodies - mother has become sensitised to the rhesus D antigens --> usually sensitisation does not cause problems for the first pregnancy unless sensitisation happens early on --> In subsequent pregnancies the mother's anti-D antibodies can cross the placenta into the fetus and if the fetus is rhesus D positive they can cause the fetus to attack their own RBCs --> leads to anaemia and high billirubin levels

Answer 520

--> Direct coombs test - checks for immune hemolytic anaemia --> Positive in haemolytic disease of the newborn

Answer 521

Key causes: --> Iron deficiency anaemia - secondary to dietary insufficiency - most common --> Blood loss - most frequently from menstruating girls/ developing countries - helminth infection (roundworms/hookworms/whipworms) treated with a single dose of albendazole or mebendazole Rarer: --> Sickle cell anaemia --> thalassaemia --> leukaemia --> hereditary spherocytosis --> sideroblastic anaemia

Answer 522

T – Thalassaemia A – Anaemia of chronic disease I – Iron deficiency anaemia L – Lead poisoning S – Sideroblastic anaemia

Answer 523

There are 3 As and 2 Hs for normocytic anaemia: A – Acute blood loss A – Anaemia of Chronic Disease A – Aplastic Anaemia H – Haemolytic Anaemia H – Hypothyroidism

Answer 524

Impaired DNA synthesis prevents the cell from dividing normally Keeps growing into a large abnormal cell Caused by vitamin deficiency

Answer 525

B12 deficiency Folate deficiency

Answer 526

--> Alcohol --> Reticulocytosis (usually from haemolytic anaemia or blood loss) --> Hypothyroidism --> Liver disease --> Drugs such as azathioprine

Answer 527

-->Tiredness --> Shortness of breath --> Headaches --> Dizziness --> Palpitations --> Worsening of other conditions There are symptoms specific to iron deficiency anaemia: --> Pica describes dietary cravings for abnormal things such as dirt and can signify iron deficiency --> Hair loss can indicate iron deficiency anaemia

Answer 528

Generic signs of anaemia: --> Pale skin --> Conjunctival pallor --> Tachycardia --> Raised respiratory rate Signs of specific causes of anaemia: --> Koilonychia refers to spoon shaped nails, which can indicate iron deficiency --> Angular chelitis can indicate iron deficiency --> Atrophic glossitis is a smooth tongue due to atrophy of the papillae and can indicate iron deficiency --> Brittle hair and nails can indicate iron deficiency --> Jaundice occurs in haemolytic anaemia --> Bone deformities occur in thalassaemia

Answer 529

Initial Investigations: --> Full blood count for haemoglobin and MCV --> Blood film --> Reticulocyte count - Reticulocytes are immature red blood cells. A high level of reticulocytes in the blood indicates active production of red blood cells to replace lost cells. This usually indicates the anaemia is due to haemolysis or blood loss. --> Ferritin (low iron deficiency) --> B12 and folate --> Bilirubin (raised in haemolysis) --> Direct Coombs test (autoimmune haemolytic anaemia) --> Haemoglobin electrophoresis (haemoglobinopathies) Further investigation will depend on the suspected underlying cause.

Answer 530

Management depends on establishing the underlying cause and directing treatment accordingly. Iron deficiency can be treated with iron supplementation. Severe anaemia may require blood transfusions.

Answer 531

Thalassaemia is related to a genetic defect in the protein chains that make up haemoglobin. Normal haemoglobin consists of 2 alpha and 2 beta globin chains. Defects in the alpha globin chains lead to alpha thalassaemia. Defects in the beta-globin chains lead to beta thalassaemia. Both conditions are autosomal recessive. The overall effect is varying degrees of anaemia, depending on the type and mutation In patients with 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. The bone marrow expands to produce extra red blood cells to compensate for chronic anaemia. This causes susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheekbones).

Answer 532

Microcytic anemia (low mean corpuscular volume) Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth and development Pronounced forehead and malar eminences

Answer 533

--> Full blood count shows microcytic anaemia. --> Haemoglobin electrophoresis is used to diagnose globin abnormalities. --> DNA testing can be used to look for the genetic abnormality --> Pregnant women are offered a screening test for thalassemia at booking

Answer 534

--> from the faulty creation of red blood cells --> recurrent transfusions --> Increased absorption of iron in the gut in response to anemia Patients with thalassaemia have serum ferritin levels monitored to check for iron overload

Answer 535

Iron overload in thalassemia causes effects similar to hemochromatosis: Fatigue Liver cirrhosis Infertility Impotence Heart failure Arthritis Diabetes Osteoporosis and joint pain

Answer 536

limiting transfusions and performing iron chelation.

Answer 537

Alpha-thalassaemia is caused by defects in alpha globin chains. The gene coding for this protein is on chromosome 16.

Answer 538

--> Monitoring the full blood count --> Monitoring for complications --> Blood transfusions --> Splenectomy may be performed --> Bone marrow transplant can be curative

Answer 539

Beta-thalassaemia is caused by defects in beta globin chains. The gene coding for this protein is on chromosome 11. The gene defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta-globin protein at all. Based on the type of defect, beta-thalassemia can be split into three types: Thalassemia minor Thalassaemia intermedia Thalassemia major

Answer 540

Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.

Answer 541

mild microcytic anaemia

Answer 542

only require monitoring and no active treatment.

Answer 543

Patients with beta thalassaemia intermedia have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene.

Answer 544

more significant microcytic anaemia

Answer 545

monitoring and occasional blood transfusions. When they require more transfusions, they may require iron chelation to prevent iron overload.

Answer 546

Patients with beta thalassaemia major 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 547

--> Severe microcytic anaemia --> Splenomegaly --> Bone deformities

Answer 548

Management involves regular transfusions, iron chelation, and splenectomy. Bone marrow transplants can potentially be curative.

Answer 549

Genetic disorder which causes sickle shaped red blood cells Abnormal shape makes the red blood cells more fragile and easily destroyed leading to haemolytic anaemia prone to various sickle cell crises

Answer 550

During fetal development, at around 32-36 weeks gestation, fetal haemoglobin (HbF) production decreases, and adult haemoglobin (HbA) increases. There is a gradual transition from HbF to HbA. At birth, around half the haemoglobin is HbF, and half is HbA. By six months of age, very little HbF is produced, and red blood cells contain almost entirely HbA. Patients with sickle-cell disease have an abnormal variant called haemoglobin S (HbS). HbS results in sickle-shaped red blood cells. Sickle cell anaemia is an autosomal recessive condition affecting the gene for beta-globin on chromosome 11. One abnormal copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic. They are carriers of the condition. Two abnormal copies result in sickle-cell disease.

Answer 551

Having the 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 genes

Answer 552

--> Newborn blood spot at around 5 days of age --> Pregnant women at high risk of being carriers of sickle cell trait are offered testing

Answer 553

Anaemia Increased risk of infection Chronic kidney disease Sickle cell crises Acute chest syndrome Stroke Avascular necrosis in large joints such as the hip Pulmonary hypertension Gallstones Priapism (painful and persistent penile erections)

Answer 554

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 be triggered by dehydration, infection, stress or cold weather.

Answer 555

There is no specific treatment for sickle cell crisis. They are managed supportively, with: Low threshold for admission to hospital Treating infections that may have triggered the crisis Keep warm Good hydration (IV fluids may be required) Analgesia (NSAIDs should be avoided where there is renal impairment)

Answer 556

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 ischemia.

Answer 557

It typically presents with pain and swelling in the hands or feet but can affect the chest, back, or other body areas. It can be associated with fever. It can cause priapism in men 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 558

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. Medical emergency

Answer 559

--> Management is supportive, with blood transfusions and fluid resuscitation to treat anaemia and shock --> Splenectomy prevents sequestration crises and may be used in recurrent cases.

Answer 560

--> splenic infarction, leading to hyposplenism and susceptibility to infections

Answer 561

Aplastic crisis 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 supportive, with blood transfusions if necessary. It usually resolves spontaneously within around a week.

Answer 562

Acute chest syndrome occurs when the vessels supplying the lungs become clogged with red blood cells. A vaso-occlusive crisis, fat embolism or infection can trigger it.

Answer 563

Fever SOB chest pain cough hypoxia X-ray shows pulmonary infiltrates

Answer 564

Medical emergency --> 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 565

A specialist MDT will manage sickle cell disease. The general principles are: --> Avoid triggers for crises, such as dehydration --> Up-to-date vaccinations --> Antibiotic prophylaxis to protect against infection, typically with penicillin V (phenoxymethylpenicillin) --> Hydroxycarbamide (stimulates HbF) --> Crizanlizumab --> monoclonal antibody which prevents RBC sticking with blood vessel --> Blood transfusions for severe anaemia --> Bone marrow transplant can be curative

Answer 566

X-linked recessive

Answer 567

X-linked recessive disorder of coagulation

Answer 568

--> can bleed excessively in response to minor trauma --> Most cases present in early childhood with intracranial haemorrhages/ haematomas and cord bleeding in neonates --> Spontaneous bleeding into joints (haemarthrosis) - can lead to joint damage and deformity, bleeding into muscle can cause compartment syndrome Other areas of bleeding include: --> Oral mucosa --> Nosebleeds (epistaxis) --> Gastrointestinal tract --> Urinary tract, causing haematuria --> Intracranial haemorrhage --> Surgical wounds

Answer 569

bleeding scores coagulation factor assays genetic testing

Answer 570

The affected clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding. A complication of this treatment is the formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective.

Answer 571

most common inherited cause of abnormal and prolonged bleeding autosomal dominant, can be acquired, rare such as leukaemia

Answer 572

In von Willebrand disease, there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF). Von Willebrand factor is important in platelet adhesion and aggregation in damaged vessels.

Answer 573

Type 1 involves a partial deficiency of VWF and is the most common and mildest type Type 2 involves the reduced function of VWF Type 3 involves a complete deficiency of VWF and is the most rare and severe type

Answer 574

Patients present with a history of unusually easy, prolonged or heavy bleeding: Bleeding gums with brushing Nosebleeds (epistaxis) Easy bruising Heavy menstrual bleeding (menorrhagia) Heavy bleeding during and after surgical operations

Answer 575

Diagnosis is based on a history of abnormal bleeding, family history, bleeding assessment tools and laboratory investigations. Due to the various underlying causes and types, there is no single von Willebrand disease test

Answer 576

Von Willebrand disease does not generally require daily treatment. Management is needed in response to significant bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding). Options include: Desmopressin (stimulates the release of vWF from endothelial cells) Tranexamic acid Von Willebrand factor infusion Factor VIII plus von Willebrand factor infusion

Answer 577

Type 2 hypersensitivity reaction causing a low platelet count and a non-blanching rash --> production of antibodies that targets and destroys platelets --> can occur spontaneously or can be triggered by something such as a viral infection

Answer 578

--> usually in children under 10 --> often history of recent viral illness, onset 24-48 hours --> bleeding - gums, epistaxis or menorrhagia --> bruising --> Petechial/purpuric rash, caused by bleeding under the skin

Answer 579

--> Urgent full blood count - platelet count low and everything else normal --> Other causes of low platelet count should be excluded such as heparin-induced thrombocytopenia and leukaemia

Answer 580

The severity and management depends on how low the platelet count falls. Usually no treatment is required and patients are monitored until the platelets return to normal. Around 70% of patients will remit spontaneously within 3 months. Treatment may be required if the patient is actively bleeding or severe thrombocytopenia (platelets below 10): --> Prednisolone --> IV immunoglobulins --> Blood transfusions if required --> Platelet transfusions only work temporarily --> Platelet transfusions only work temporarily because the antibodies against platelets will begin destroying the transfused platelets as soon as they are infused

Answer 581

Chronic ITP Anaemia Intracranial and subarachnoid haemorrhage Gastrointestinal bleeding

Answer 582

Dietary insufficiency. This is the most common cause in children. Loss of iron, for example in heavy menstruation Inadequate iron absorption, for example in Crohn’s disease

Answer 583

--> Iron is mainly absorbed in the duodenum and jejunum. It requires the acid from the stomach to keep the iron in the soluble ferrous (Fe2+) form. --> When there is less acid in the stomach, it changes to the insoluble ferric (Fe3+) form. Therefore, medications that reduce stomach acid, such as proton pump inhibitors (lansoprazole and omeprazole) can interfere with iron absorption

Answer 584

--> Ferritin is the form that iron takes when it is deposited and stored in cells. --> Extra ferritin is released from cells when there is inflammation, such as with infection or cancer. --> If ferritin in the blood is low, this is highly suggestive of iron deficiency. --> High ferritin is difficult to interpret and is likely to be related to inflammation rather than iron overload. --> A patient with normal ferritin can still have iron deficiency anaemia, particularly if they have reasons to have a raised ferritin, such as infection.

Answer 585

Serum iron levels in blood vary significantly throughout the day

Answer 586

Total iron binding capacity can be used as a marker for how much transferrin is in the blood. It is an easier test to perform than measuring transferrin. Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload.

Answer 587

--> Management involves treating the underlying cause and correcting the anaemia. In children the underlying cause is usually dietary deficiency, so input from a dietician can be helpful. --> Iron can be supplemented with ferrous sulphate or ferrous fumarate. This slowly corrects the iron deficiency. Oral iron causes constipation and black-coloured stools. It is unsuitable where malabsorption is the cause of the anaemia. --> Blood transfusions are very rarely necessary. Children are generally able to tolerate low haemoglobin well and can be given time to correct their anaemia.

Answer 588

Name for a cancer of a particular line of stem cells in the bone marrow. This causes unregulated production of certain types of blood cells. Types of leukemia can be classified depending on how rapidly they progress (chronic is slow and acute is fast) and the cell line that is affected (myeloid or lymphoid).

Answer 589

Acute lymphoblastic leukaemia (ALL) is the most common in children Acute myeloid leukaemia (AML) is the next most common Chronic myeloid leukaemia (CML) is rare

Answer 590

ALL peaks aged 2 – 3 years AML peaks aged under 2 years

Answer 591

--> Leukaemia is a form of cancer of the cells in the bone marrow. A genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell. --> The excessive production of a single type of cell can lead to suppression of the other cell lines, causing underproduction of other cell types. This results in a pancytopenia, which is a combination of low: Red blood cells (anaemia), White blood cells (leukopenia) Platelets (thrombocytopenia)

Answer 592

Radiation exposure, for example with an abdominal xray during pregnancy, is the main environmental risk factor for leukaemia. There are several conditions that predispose to a higher risk of developing leukaemia: Down’s syndrome Kleinfelter syndrome Noonan syndrome Fanconi’s anaemia

Answer 593

--> Persistent fatigue --> Unexplained fever --> Failure to thrive --> Weight loss --> Night sweats --> Pallor (anaemia) --> Petechiae and abnormal bruising (thrombocytopenia) --> Unexplained bleeding (thrombocytopenia) --> Abdominal pain --> Generalised lymphadenopathy --> Unexplained or persistent bone or joint pain --> Hepatosplenomegaly

Answer 594

NICE recommend referring any child with unexplained petechiae or hepatomegaly for immediate specialist assessment. If leukaemia is suspected based on the non-specific signs above, NICE recommends a very urgent full blood count within 48 hours. Investigations to establish the diagnosis: --> Full blood count, which can show anaemia, leukopenia, thrombocytopenia and high numbers of the abnormal WBCs --> Blood film, which can show blast cells --> Bone marrow biopsy --> Lymph node biopsy Further tests may be required for staging: --> Chest x-ray --> CT scan --> Lumbar puncture --> Genetic analysis and immunophenotyping of the abnormal cells

Answer 595

Treatment of leukaemia will be coordinated by a paediatric oncology multi-disciplinary team. Leukaemia is primarily treated with chemotherapy. Other therapies: Radiotherapy Bone marrow transplant Surgery

Answer 596

Failure to treat the leukaemia Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity

Answer 597

The overall cure rate for ALL is around 80%, but the prognosis depends on individual factors. The outcomes are less positive for AML

Answer 598

Wilms’ tumour is a specific type of tumour affecting the kidney in children, typically under the age of 5 years.

Answer 599

--> child under 5 with a mass in the abdomen --> abdominal pain --> haematuria --> lethargy --> fever --> hypertension --> weight loss

Answer 600

Ultrasound of the kidneys --> CT/MRI to stage the tumour --> Biopsy to identify the histology and make a definitive diagnosis

Answer 601

--> Surgical excision of tumour along with kidney - nephrectomy --> Adjuvant chemotherapy or radiotherapy

Answer 602

Early stage tumours with favourable histology hold a good chance of cure Metastatic disease has a poorer diagnosis

Answer 603

One of the top five causes of cancer in children Tumours arise from the neural crest tissue of the adrenal medulla most common and the sympathetic nervous system Median age of onset is 20 months

Answer 604

Abdominal mass pallor, weight loss - , myelosuppression - bone metastasis - anaemia, thrombocytopaenia and leukopenia Bone pain, limp - bone metastasis hepatomegaly paraplegia - spinal cord compression proptosis Horner syndrome

Answer 605

CT scan - Renal mass adjacent to spinal nerve roots confirms diagnosis Elevated catecholamine breakdown products VMA and HMA Biopsy FBC - thrombocytopaenia, leukopenia, anaemia calcification may be seen on abdominal X-ray

Answer 606

Most common ocular malignancy in children average age of diagnosis is 18 months

Answer 607

--> Autosomal dominant inheritance pattern --> Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13 --> Around 10% of cases are hereditary

Answer 608

--> Absent red-reflex, replaced by a white pupil (leukocoria) most common presenting symptom --> strabismus --> visual problems

Answer 609

--> Enucleation is not the only option --> Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation

Answer 610

excellent prognosis with >90% surviving into adulthood

Answer 611

--> type of bone cancer --> usually presents in adolescents and younger adults 10-20 years --> most common bone affected the femur also the tibia and humerus

Answer 612

--> The main presenting feature is persistent bone pain, particularly worse at night , may disturb sleep --> other symptoms that may be present include bone swelling, palpable mass and restricted bone movements

Answer 613

--> NICE - very urgent X-ray within 48 hours with children who have unexplained bone pain or swelling and urgent specialist assessment within 48 hours if abnormalities detected --> X-rays show poorly defined lesion in the bone with destruction of the normal bone and a fluffy appearance - can be periosteal reaction (irritation of the bone lining) described as a sun burst appearance, can be associated soft tissue mass --> blood tests may show raised alkaline phosphatase (ALP) Investigations for staging --> CT/MRI --> Bone scan --> PET scan --> Bone biopsy

Answer 614

--> Surgical resection of the lesion often with limb amputation/ adjuvant chemotherapy after surgery usually improves outcomes --> MDT team for treatment of the tumour --> main complication is pathological bone fractures and metastasis.

Answer 615

--> when a male has an extra X chromosome - 47 XXY

Answer 616

--> Appear as normal males until puberty --> taller height --> wider hips --> gynaecomastia --> weaker muscles --> small testicles --> reduced libido --> shyness --> infertility --> subtle learning dificulties

Answer 617

--> Treatment aims to help with the features of the condition --> Testosterone injections --> improve many of the symptoms --> advanced IVF techniques - have the potential to allow fertility --> Breast reduction surgery - cosmetic gynae --> MDT - speech and language therapy, occupational therapy, physiotherapy, educational support

Answer 618

There is a slight increased risk of: Breast cancer compared with other males (but still less than females) Osteoporosis Diabetes Anxiety and depression

Answer 619

When a female has a single X chromosome - 45 XO O refers to an empty space where the other X chromosome should be

Answer 620

--> Short stature --> Webbed neck --> High arching palate --> Downward sloping eyes with ptosis --> Broad chest with widely spaced nipples --> Cubitus valgus - angle of the forearm at the elbow exaggerated --> Underdeveloped ovaries with reduced function --> Late or incomplete puberty --> Most women are infertile

Answer 621

Recurrent otitis media Recurrent urinary tract infections Coarctation of the aorta Hypothyroidism Hypertension Obesity Diabetes Osteoporosis Various specific learning disabilities

Answer 622

--> Growth hormone therapy can be used to prevent short stature --> Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle, and prevent osteoporosis --> Fertility treatment can increase the chances of becoming pregnant

Answer 623

Trisomy 18 - syndrome varies in severity and affects almost all areas of the body resulting in dysmorphic features and learning disability

Answer 624

--> micrognathia - undersized lower jaw --> low set ears --> rocker bottom feet --> overlapping fingers

Answer 625

--> trisomy 13 - results in dysmorphic features, structural abnormalities and LD - rocher bottom feet

Answer 626

Microcephaly, small eyes rocker bottom feet cleft lip/palate polydactyly scalp lesions

Answer 627

Caused by mutation in the Fragile X mental retardation 1 gene on the X chromosome - males always affected as females have a sapre copy of the gene affected --> may result from de novo mutation

Answer 628

Fragile X syndrome usually presents with a delay in speech and language development. Other features are: Intellectual disability macrocephaly Long, narrow face Large ears Large testicles after puberty Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures

Answer 629

--> Genetic condition caused by a loss of function of the UBE3A gene, the copy of the gene that is inherited from the mother --> deletion on chromosome 15

Answer 630

--> unusual fascination with water --> happy demeanor --> widely spaced teeth --> delayed development/ LD/ severe delay or absence of speech development --> possibly seizures --> hand flapping --> microcephaly

Answer 631

--> genetic condition in which there is a loss of functional genes on the proximal arm of chromosome 15 from the father

Answer 632

--> Constant insatiable hunger that leads to obesity --> Poor muscle tone as an infant --> hypogonadism

Answer 633

--> Dieticians very important role --> MDT approach --> NICE encourages growth hormone aimed at improving muscle development and body composition

Answer 634

Genetic condition - number of different genes that cause Noonan syndrome --> Majority of cases are inherited in an autosomal dominant way

Answer 635

Hypertelorism (wide space between the eyes) Webbed neck Short statire Pulmonary stenosis

Answer 636

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 Lymphoedema Increased risk of leukaemia and neuroblastoma

Answer 637

--> Congenital heart disease and often patients require corrective heart surgery

Answer 638

--> caused by deletion of genetic material on one copy of chromosome 7

Answer 639

--> Very sociable personality --> Starbusrt eyes --> short stature --> LD --> wide mouth with a big smile --> supravalvular aortic stenosis --> hypercalcemia

Answer 640

--> MDT approach --> Echocardiograms and blood pressure monitoring for aortic stenosis --> Low calcium diet

Answer 641

Trisomy 21 - gives rise to characteristic dysmorphic features and associated with many conditions

Answer 642

--> Hypotonia (reduced muscle tone) --> Brachycephaly (small head with a flat back) --> Short neck --> Short stature --> Flattened face and nose --> Prominent epicanthic folds --> Upward sloping palpebral fissures --> Single palmar crease

Answer 643

--> Learning disability --> Recurrent otitis media --> Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss. --> Visual problems such myopia, strabismus and cataracts --> Hypothyroidism occurs in 10 – 20% --> Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot --> Atlantoaxial instability --> Leukaemia is more common in children with Down’s --> Dementia is more common in adults with Down’s

Answer 644

--> All women offered antenatal screening to decide which women need more invasive tests for a diagnosis --> Combined test - first line - 11 to 14 weeks gestation - results from ultrasound and maternal blood tests - US measures nuchal translucency - thickness of the back of the neck of the fetus, maternal blood tests - beta - HCG - higher result indicates a greater risk and PAPPA a lower result indicates a greater risk --> triple test - 14-20 weeks gestation - only maternal blood test - beta HCG - higher gives higher risk, AFP - low results indicates a greater risk and serum oestriol - a lower result indicates a greater risk --> Quadruple test - 14 to 20 weeks and identical to triple wil maternal blood for inhibin-A - greater inhibin-A gives a greater risk

Answer 645

--> more invasive testing --> amniocentesis - amniotic fluid is aspirated and later in pregnancy is safer --> Chronic villus sampling - ultrasound-guided biopsy of the placenta - can be done earlier in pregnancy

Answer 646

--> blood test from mother --> contains fragments of DNA where some comes from the placenta --> can be analysed and detect conditions such as Downs

Answer 647

--> MDT approach 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 648

genetic condition which causes brittle bones that are prone to fractures --> caused by a range of genetic mutations that affect the formation of collagen

Answer 649

--> presents with recurrent and inappropriate fractures --> hypermobility --> blue/grey sclera -->triangular face --> short stature --> deafness from early adulthood --> dental problems - formation of teeth --> Bone deformities such as bowed legs and scoliosis --> joint and bone pain

Answer 650

--> clinical diagnosis --> X-rays can be helpful for fractures and deformities --> genetic testing is possible

Answer 651

--> bisphosphonates - increase bone density --> Vitamin D supplementation to prevent deficiency --> management through MDT team with physiotherapy and occupational/ peadiatricians/ orthopaedic surgeons/ specialist nurses for advice and support and social workers

Answer 652

A condition affecting children where there is defective bone mineralisation and this causes soft and deformed bones. In adults the same process is called osteomalacia

Answer 653

--> Caused by a deficiency of Vit D or calcium --> A rare form of rickets caused by genetic defects that result in low phosphate in the blood called hereditary hypophosphataemic rickets - X-linked dominant

Answer 654

Vitamin D is a hormone created from cholesterol by the skin in response to UV radiation. Patients with darker skin require a longer period of sun exposure to generate the same quantity of vitamin D. A standard diet contains inadequate levels of vitamin D to compensate for a lack of sun exposure. Reduced sun exposure without vitamin D supplementation leads to vitamin D deficiency. Patients with malabsorption disorders (such as inflammatory bowel disease) are more likely to have vitamin D deficiency. The kidneys are essential in metabolising vitamin D to its active form, therefore vitamin D deficiency is common in chronic kidney disease. Vitamin D is essential in calcium and phosphate absorption from the intestines and kidneys. Vitamin D is also responsible for regulating bone turnover and promoting bone reabsorption to boost the serum calcium level. Inadequate vitamin D leads to a lack of calcium and phosphate in the blood. Since calcium and phosphate are required for the construction of bone, low levels result in defective bone mineralisation. Low calcium causes secondary hyperparathyroidism as the parathyroid gland tries to raise the calcium level by secreting parathyroid hormone. Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

Answer 655

Patients with vitamin D deficiency and rickets may not have any symptoms. Potential symptoms are: --> Lethargy --> Bone pain --> Swollen wrists --> Bone deformity --> Poor growth --> Dental problems --> Muscle weakness --> Pathological or abnormal fractures Bone deformities that can occur in rickets include: --> Bowing of the legs, where the legs curve outwards --> Knock knees, where the legs curve inwards --> Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest --> Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing --> Delayed teeth with under-development of the enamel

Answer 656

--> Darker skin --> low exposure to sunlight --> live in colder climates --> spend majority of time indoors

Answer 657

--> Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis of vitamin D deficiency, which can lead to rickets. --> X-ray is required to diagnose rickets. X-rays may also show osteopenia (more radiolucent bones). Other investigation results include: --> Serum calcium may be low --> Serum phosphate may be low --> Serum alkaline phosphatase may be high --> Parathyroid hormone may be high NICE clinical knowledge summaries suggest additional investigations to look for other pathology: --> Full blood count and ferritin, for iron deficiency anaemia Inflammatory markers such as ESR and CRP, for inflammatory conditions --> Kidney function tests, for kidney disease --> Liver function tests, for liver pathology -->Thyroid function tests, for hypothyroidism --> Malabsorption screen such as anti-TTG antibodies, for coeliac disease --> Autoimmune and rheumatoid tests, for inflammatory autoimmune conditions

Answer 658

--> Prevention is the best management --> Breastfed babies are at higher risk of Vit D deficiency as formula feeds are fortified with Vit D/ breastfeeding women and all children should take Vit D supplements --> Children with Vit D deficiency can be treated with Vitamin D (ergocalciferol) --> Children with features of rickets should be referred to a paediatrician - Vitamin D and calcium supplementation is used to treat rickets

Answer 659

--> Sometimes referred to as irritable hip --> caused by temporary irritation and inflammation in the synovial membrane of the joint --> most common cause of hip pain in children aged 3-10 years --> often associated with a recent URTI --> children with transient synovitis typically do not have a fever. Children with joint pain and a fever need urgent management for septic arthritis

Answer 660

Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of: --> Limp --> Refusal to weight bear --> Groin or hip pain --> Mild low grade temperature --> Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.

Answer 661

General management of transient synovitis is symptomatic, with simple analgesia to help ease the discomfort. The challenge is to establish the correct diagnosis and exclude other significant pathology, particularly septic arthritis. --> children aged 3-9 with symptoms suggestive of transient synovitis may be managed in primary care if the limp is present for less than 48 hours and other wise well with safety net for fever

Answer 662

--> usually affects a single joint - often a knee or a hip --> rapid onset of hot, red, swollen and painful joint --> refusing to bear weight --> stiffness and reduced range of motion --> systemic symptoms such as fever, lethargy and sepsis --> can be subtle in young children so always consider as differential in joint problems

Answer 663

--> infection within the joint, can occur at any age --> emergency as the infection can quickly begin to destroy the joint and cause serious systemic illness --> common and important complication of joint replacement

Answer 664

--> Staphylococcus aureus - most common --> Neisseria gonorrhoea - sexually active teenagers --> Group A streptococcus ( streptococcus pyogenes) --> Haemophillus influenzae --> E.Coli

Answer 665

Transient sinovitis Perthes disease Slipped upper femoral epiphysis Juvenile idiopathic arthritis

Answer 666

Have a low threshold for treating a patient for septic arthritis until it has been excluded with examination of the joint fluid. Be particularly cautious with immunosuppressed patients. Patients with suspected septic arthritis require admission to hospital and involvement of the orthopaedic team. The joint should be aspirated prior to giving antibiotics where possible. Send the sample for gram staining, crystal microscopy, culture and antibiotic sensitivities. The joint fluid may be purulent (full of pus). The gram stain will come back quite quickly and may give a clue about the organism. The full culture will take longer. Empirical IV antibiotics should be given until the microbial sensitivities are known. Antibiotics are usually continued for 3 to 6 weeks in total when septic arthritis is confirmed. The choice of antibiotic depends on the local guidelines. Patients may require surgical drainage and washout of the joint to clear the infection in severe cases

Answer 667

--> Infection in the bone and bone marrow --> typically occurs in the metaphysis of the long bones --> most common bacteria staphylococcus aureus --> Chronic osteomyelitis - slow growing infection with slow symptoms and acute presents more quickly with an acutley ill child --> infection can be introduced directly to the bone through open fractures or through the blood from skin or gums anywhere else

Answer 668

Osteomyelitis is more common in boys and children under 10 years. There is often a risk factor that predisposes the child to developing osteomyelitis: Open bone fracture Orthopaedic surgery Immunocompromised Sickle cell anaemia HIV Tuberculosis

Answer 669

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features. Signs and symptoms are: Refusing to use the limb or weight bear Pain Swelling Tenderness They may be afebrile, or may have a low grade fever. Children with acute osteomyelitis may have a high fever, particularly if it has spread to the joint causing septic arthritis

Answer 670

Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis. A bone scan is an alternative. Blood tests will show raised inflammatory markers (CRP and ESR) and white blood cells in response to the infection. Blood culture is important in establishing the causative organism. A bone marrow aspiration or bone biopsy with histology and culture may be necessary

Answer 671

Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.

Answer 672

--> Disruption of blood flow to the femoral head causing avascular necrosis --> affects the epiphysis of the femur distal to the growth plate --> occurs in children aged 4-12 years, mostly between 5-8 years and is more common in boys --> idiopathic, meaning there is no clear cause or trigger for the avascular necrosis. One theory suggests that repeated mechanical stress to the epiphysis may interrupt the blood supply. --> Over time there is revascularisation or neovascularisation and healing of the femoral head. There is remodeling of the bone as it heals. The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.

Answer 673

Slow-onset pain in the groin and hip Limp restricted hip movements referred pain to the knee no history of trauma - if the pain is triggered by minor trauma then think about slipped femoral epiphysis - particularly in older children

Answer 674

The initial investigation of choice in Perthes disease is an xray, however this can be normal. Other investigations that can be helpful in establishing the diagnosis are: Blood tests are typically normal, particularly inflammatory markers that are used to exclude other causes Technetium bone scan MRI scan

Answer 675

The severity of Perthes disease varies between patients. Initial management in younger and less severe disease is conservative. The aim of management to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head. This is with: Bed rest Traction Crutches Analgesia Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone. Regular xrays are used to assess healing. Surgery may be used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip.

Answer 676

Where the head of the femur slips along the growth plate --> more common in boys and typically presents aged 8-15 --> more common in obese children

Answer 677

--> typical presentation - adolescent, obese male undergoing a growth spurt, may be history of minor trauma that triggers the onset of symptoms, suspect SUFE if the pain is disproportionate to the severity of the trauma --> hip, groin, thigh or knee pain --> restricted range of hip movement - restricted internal rotation of the hip --> painful limp --> restricted movement in the hip

Answer 678

--> initial X-ray --> blood tests - exclude inflammatory markers for joint pain --> technetium bone scan --> CT/MRI

Answer 679

Surgery required to return the femoral head to the correct position and fix it to prevent further slippage

Answer 680

--> inflammation at the tibial tuberosity where the patella ligament inserts --> common cause of anterior knee pain in adolescent --> more common in males and 10-15 is common --> usually unilateral but can be bilateral

Answer 681

--> patella tendon inserts into the tibial tuberosity --> tibial tuberosity is at the epiphyseal growth plate --> stress from jumping, running and other movements at the same time as growth in the epiphyseal plate results in inflammation on the tibial epiphyseal plate. --> multiple small avulsion fractures where the patella ligament pulls away tiny pieces of bone --> leads to growth of the tibial tuberosity and leads to a visible lump below the knee --> initially tender due to inflammation but as it heals it becomes hard and non-tender

Answer 682

Osgood-Schlatter disease presents with a 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

Answer 683

Initial management focuses on reducing the pain and inflammation. Reduction in physical activity Ice NSAIDS (ibuprofen) for symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

Answer 684

--> Patient usually left with a hard boney lump on their knee --> rare complication is a full avulsion fracture where the tibial tuberosity - requires surgery

Answer 685

Structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy --> leads to instability in the hips and a tendency or potential for subluxation or dislocation --> persist into adulthood leading to weakness and early degenerative changes with gait abnormalities

Answer 686

First-degree family history Breech presentation from 36 weeks onwards Breech presentation at birth if 28 weeks onwards Multiple pregnancies

Answer 687

during the newborn examinations or later when the child presents with hip asymmetry, reduced range of movement in the hip or a limp

Answer 688

--> neonatal examination - 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 --> Clicking is a common examination finding and is usually due to soft tissue moving over bone. When this is the cause an ultrasound will be normal. Isolated clicking without any other features does not usually require an ultrasound unless there are other concerns. Clunking is more likely to indicate DDH and requires an ultrasound.

Answer 689

Ortolani test is done with the baby on their back with the 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 dislocate anteriorly. 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.

Answer 690

--> when suspected - ultrasound - all children with risk factors or examination findings should have an ultrasound --> X-rays can be helpful in older children

Answer 691

Treatment typically involves a Pavlik harness if the baby presents at less than 6 months of age. The Pavlik harness is fitted and kept on permanently, adjusting for the growth of the baby. The aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. This harness keeps the baby’s hips flexed and abducted. The child is regularly reviewed and the harness is removed when their hips are more stable, usually after 6 – 8 weeks. Surgery is required when the harness fails or the diagnosis is made after 6 months of age. After surgery is performed, an hip spica cast is used to immobilises the hip for a prolonged period.

Answer 692

--> refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. --> diagnosed when there is arthritis without any other cause lasting more than 6 weeks and patient under 16

Answer 693

--> joint pain, swelling and stiffness

Answer 694

Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis related arthritis Juvenile psoriatic arthritis

Answer 695

--> Subtle salmon-pink rash --> High swinging fevers Enlarged lymph nodes Weight loss --> Joint inflammation and pain Splenomegaly Muscle pain Pleuritis and pericarditis

Answer 696

Antinuclear antibodies and rheumatoid factors are typically negative. There will be raised inflammatory markers, with raised CRP, ESR, platelets, and serum ferritin.

Answer 697

idiopathic inflammatory arthritis in 5 joins or more

Answer 698

--> tends to be symmetrical and can affect the small joints of the hands and feet as well as large joints --> minimal systemic symptoms, can be mild fever, anaemia, reduced growth, mild unlike systemic JIA --> equivalent of rheumatoid arthritis in adults

Answer 699

--> Most children negative for rheumatoid factor - seronegative --> When rheumatoid factor is positive then its seropositive --> seropositive patients tend to be older children as the disease pattern is more similar to rheumatoid arthritis in adults

Answer 700

--> involves 4 joints or less --> usually single larger joint affected often knee or ankle --> occurs more in girls under the age of 6

Answer 701

anterior uveitis - referred to opthalmologist and follow up

Answer 702

Patients tend not to have any systemic symptoms and inflammatory makers will be normal or mildly elevated. Antinuclear antibodies are often positive, however rheumatoid factor is usually negative.

Answer 703

--> more common in male children over 6 years. --> can be thought of as the paediatric version of the seronegative spondyloarthropathy group of conditions that affect adults. These conditions are ankylosing spondylitis, psoriatic arthritis, reactive arthritis and inflammatory bowel disease-related arthritis. --> Patients have inflammatory arthritis in the joints as well as enthesitis.

Answer 704

--> An enthesis (pleural: entheses) is the point at which the tendon of a muscle inserts into a bone. --> Enthesitis is inflammation of this insertion point. Enthesitis can be caused by traumatic stress, such as through repetitive strain during sporting activities, or can be caused by an autoimmune inflammatory process. An MRI scan of the affected joint can demonstrate enthesitis --> The majority of patients with enthesitis-related arthritis have the HLA B27 gene

Answer 705

--> psoriasis --> IBD --> anterior uveitis --> patients with enthesitis will be tender to localised palpation of the entheses

Answer 706

--> seronegative inflammatory arthritis associated with psoriasis the skin condition. --> The pattern of joint involvement varies. Patients can have symmetrical polyarthritis affecting the small joints similar to rheumatoid, or asymmetrical arthritis affecting the large joints in the lower limb.

Answer 707

--> 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, inflammation of the entheses, which are the points of insertion of tendons into bone

Answer 708

The management should be coordinated by a specialist in paediatric rheumatology, with a specialist multi-disciplinary team. The aim of treatment is to reduce inflammation within the joints, minimise symptoms and maximise function. Medical treatment depends on the severity and response, and involves: --> NSAIDs, such as ibuprofen --> 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 709

--> Normal birth and labour leads to hypoxia --> During contractions the placenta is unable to carry out normal gaseous exchange --> Extended hypoxia leads to anaerobic respiration and bradycardia --> Further hypoxia leads to reduced consciousness and a drop in respiratory effort worsening hypoxia --> Extended hypoxia can lead to hypoxic-ischaemic encephalopathy - cerebral palsy can occur

Answer 710

Babies have a large surface area to weight ratio, and get cold very easily Babies are born wet, so they lose heat rapidly Babies that are born through meconium may have this in their mouth or airway

Answer 711

--> Warm the baby - get the baby dry as quick as possible, heat lamps and babies under 28 weeks are placed in a plastic bag and kept under a heat lamp --> Calculate APGAR score within the first 1.5 to 10 minuets while resus continues - indicator of progress after birth --> simulate breathing - drying vigoursly with a towel, placing babies head in a neutral poistion. if gasping check airways for meconium and consider aspiration --> Inflation breaths when baby is not breathing or gasping after failed stimulation - two cycles of five inflation breaths lasting 3 seconds each and if nor response then 30 seconds ventilation breaths and if still no response then chest compressions --> chest compressions - if the HR < 60 despite resuscitation and inflation breaths and performed at 3:1 ratio with ventilation breaths --> babies may benefit from therapeutic hypothermia

Answer 712

--> Appearance (Skin Color): 0: Blue/pale centrally 1: Blue extremities 2: Pink --> Pulse: 0: Absent 1: < 100 2: > 100 --> Grimace (Response to Stimulation): 0: No response 1: Little response 2: Good response --> Activity (Muscle Tone): 0: Floppy 1: Flexed arms and legs 2: Active --> Respiration: 0: Absent 1: Slow/irregular 2: Strong/crying

Answer 713

--> Affects premature neonates, born before the lungs start producing adequate surfactant --> Commonly occurs below 32 weeks --> CXR shows ground glass appearance

Answer 714

Inadequate surfactant leads to high surface tension within alveoli. This leads to atelectasis (lung collapse), as it is more difficult for the alveoli and the lungs to expand. This leads to inadequate gaseous exchange, resulting in hypoxia, hypercapnia (high CO2) and respiratory distress

Answer 715

Antenatal steroids (i.e. dexamethasone) given to mothers with suspected or confirmed preterm labor increases the production of surfactant and reduces the incidence and severity of respiratory distress syndrome in the baby. Premature neonates may need: --> Intubation and ventilation to fully assist breathing if the respiratory distress is severe --> Endotracheal surfactant, which is artificial surfactant delivered into the lungs via an endotracheal tube --> Continuous positive airway pressure (CPAP) via a nasal mask to help keep the lungs inflated whilst breathing --> Supplementary oxygen to maintain oxygen saturations between 91 and 95% in preterm neonates --> Support with breathing is gradually stepped down as the baby develops and is able to maintain their breathing, until they can support themselves in air.

Answer 716

Short term complications: Pneumothorax Infection Apnoea Intraventricular haemorrhage Pulmonary haemorrhage Necrotising enterocolitis Long term complications: Chronic lung disease of prematurity Retinopathy of prematurity occurs more often and more severely in neonates with RDS Neurological, hearing and visual impairment

Answer 717

--> Also known as chronic lung disease of prematurity --> occurs in preterm 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 718

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

Answer 719

Low oxygen saturations Increased work of breathing Poor feeding and weight gain Crackles and wheezes on chest auscultation Increased susceptibility to infection

Answer 720

Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation can help speed up the development of the fetal lungs before birth and reduce the risk of CLDP. Once the neonate is born the risk of CLDP can be reduced by: Using CPAP rather than intubation and ventilation when possible Using caffeine to stimulate the respiratory effort Not over-oxygenating with supplementary oxygen

Answer 721

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, Babies with CLDP 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. This is very expensive (around £500 per injection) so is reserved for babies meeting certain criteria.

Answer 722

--> Respiratory distress in the newborn as a result of meconium in the trachea

Answer 723

--> post-term deliveries --> history of maternal hypertension, pre-eclampsia, chorioamnionitis and smoking or substance abuse

Answer 724

--> disorder affecting premature babies - part of the bowel becomes necrotic --> life-threatening emergency as perforation can occur and can lead to peritonitis and shock

Answer 725

Very low birth weight or very premature Formula feeds (it is less common in babies fed by breast milk feeds) Respiratory distress and assisted ventilation Sepsis Patient ductus arteriosus and other congenital heart disease

Answer 726

--> Intolerance to feeds --> Vomiting, particularly with green bile --> Generally unwell --> Distended, tender abdomen --> Absent bowel sounds --> Blood in stools --> When perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Answer 727

Blood tests: --> Full blood count for thrombocytopenia and neutropenia CRP for inflammation --> Capillary blood gas will show a metabolic acidosis --> Blood culture for sepsis --> Abdominal xray is the investigation of choice for diagnosis. Xrays can show: --> Dilated loops of bowel --> Bowel wall oedema (thickened bowel walls) --> 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 --> Gas in the portal veins

Answer 728

Neonates with suspected NEC need to be nil by mouth with IV fluids, total parenteral nutrition (TPN) and antibiotics to stabilise them. A nasogastric tube can be inserted to drain fluid and gas from the stomach and intestines. NEC is a surgical emergency and requires immediate referral to the neonatal surgical team. Some neonates will recover with medical treatment. 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 729

Perforation and peritonitis Sepsis Death Strictures Abscess formation Recurrence Long term stoma Short bowel syndrome after surgery

Answer 730

--> they can utilise other fuels such as ketones and lactate --> called transient hypoglycaemia

Answer 731

--> pre-term birth --> maternal DM --> intrauterine growth restriction --> hypothermia --> neonatal sepsis --> inborn errors of metabolism

Answer 732

--> 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 733

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 -->admit to the neonatal unit intravenous infusion of 10% dextrose

Answer 734

--> congenital condition where there is a split or open section of the upper lip

Answer 735

--> defect exists in the hard or soft palate at the roof of the mouth --> leaves an opening between the mouth and the nasal cavity

Answer 736

--> not life-threatening --> can have problems with feeding, swallowing and speech --> can have psycho-social implications --> cleft palapte can lead children more prone to hearing problems, ear infections and glue ear

Answer 737

Patients should be referred to the local cleft lip services. This involves the specialist multi-disciplinary team: -->Specialist nurses to support and coordinate care --> Plastic, maxillofacial and ENT surgeons --> Dentists --> Speech and language therapists --> Psychologists --> General practitioners The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats. The specialist nurse will follow the child up through surgery and beyond to ensure good development The 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. Cleft lip surgery is usually performed at 3 months, whilst cleft palate surgery is done at 6 – 12 months.

Answer 738

--> Misalignment of eyes - also known as strabismus, patients can experience double vision

Answer 739

--> When squint occurs in childhood befoer the eyes have fully established connections with the brain --> The misalignment reduces the signal from the less dominant eye --> this results in one eye they use to see (dominant) and one eye they ignore (lazy eye) --> if not treated it can progressivley become more disconnected from the brain and can worsen --> called amblyopia - where the affected eye has become passive and has reduced function compared to the dominant eye

Answer 740

Concomitant squints are due to differences in the control of the extra ocular muscles. The severity of the squint can vary. Paralytic squints are rare. They are due to paralysis in one or more of the extra ocular muscles.

Answer 741

inward positioned squint (affected eye towards the nose)

Answer 742

outward positioned squint (affected eye towards the ear)

Answer 743

upward moving affected eye

Answer 744

downward moving affected eye

Answer 745

Cases of squint in otherwise healthy children are usually idiopathic, meaning there is not a specific underlying cause. Other causes of squint include: Hydrocephalus Cerebral palsy Space occupying lesions, for example retinoblastoma Trauma

Answer 746

General inspection Eye movements Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology Visual acuity Hirschberg’s test: 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. Cover test: 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 747

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. An occlusive patch can be used to cover the good eye and force the weaker eye to develop. An alternative to the patch may involve using atropine drops in the good eye, causing vision in that eye to be blurred. Management is coordinated by an ophthalmologist. It will be important to treat any underlying pathology, such as cataracts. Refractive errors can be corrected with corrective lenses.

Answer 748

--> Gross motor --> Fine motor and vision --> speech and hearing --> social behaviour and play

Answer 749

--> little or no head lag on being pulled to sit --> babies head control improves

Answer 750

--> pulls self to sitting

Answer 751

--> pulls to standing and crawls

Answer 752

--> cruises and walks with one hand held

Answer 753

--> squats to pick up toy

Answer 754

--> can ride a tricycle using pedals

Answer 755

--> hops on one leg

Answer 756

--> Walks unsupported

Answer 757

Reaches for object Holds rattle briefly if given to hand Visually alert, particularly human faces Fixes and follows to 180 degrees

Answer 758

Holds in palmar grasp Pass objects from one hand to another Visually insatiable, looking around in every direction

Answer 759

Points with finger Early pincer

Answer 760

Good pincer grip Bangs toys together

Answer 761

circular scribble

Answer 762

copies vertical line

Answer 763

Copies circle

Answer 764

Copies cross

Answer 765

Copies square and triangle

Answer 766

--> looks at page and pats book

Answer 767

--> turns pages , several at a time

Answer 768

--> turns pages one at a time

Answer 769

--> cerebral palsy

Answer 770

--> quieten to parents voice

Answer 771

--> Double syllables - adah and erleh

Answer 772

--> says simple words - mama and dada

Answer 773

--> knows and responds to own name

Answer 774

--> combine 2 words

Answer 775

--> vocab of 200 words

Answer 776

--> talks in short sentences 3 to 5 words --> identifies colours

Answer 777

--> asks why, when and how questions

Answer 778

Laughs, enjoys friendly handling

Answer 779

Shy takes everything to mouth

Answer 780

Refers to a child displaying slow development in all developmental domains - could indicate an underlying diagnosis

Answer 781

Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders

Answer 782

Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 783

--> dyspraxia --> cerebral palsy --> muscular dystrophy --> visual impairment

Answer 784

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 785

Emotional and social neglect Parenting issues Autism

Answer 786

Umbrella term for a condition where there is a tendancy to have seizures

Answer 787

Transient episodes of abnormal electrical activity in the brain many different types of seizures

Answer 788

Seizure free on the minimum anti epileptic medications - ideally monotherapy

Answer 789

--> tonic (muscle tensing) before clonic (muscle jerking) --> may be associate with tongue biting, incontinence, groaning and irregular breathing --> after the seizure there is a prolonged post-ictal period where the person is confused, drowsy and feels irritable or low

Answer 790

First line --> sodium valporate Second line --> lamotrigine or carbamazepine

Answer 791

--> start in the temporal lobe --> affect hearing, speech, memory and emotions --> hallucinations --> memory flashbacks --> Deja vu --> doing strange things on autopilot

Answer 792

--> reverse of tonic clonic --> first line - lamotrigine or carbamazepine --> second line - sodium valporate or levetiracetam

Answer 793

Absence seizures typically happen in children. The patient becomes blank, stares into space and then abruptly returns to normal. During the episode they are unaware of their surroundings and won’t respond. These typically only lasts 10 to 20 seconds.

Answer 794

Most patients (more than 90%) stop having absence seizures as they get older. Management: First line: sodium valproate or ethosuximide

Answer 795

--> Drop attacks --> brief lapse in muscle tone --> no more than 3 mins

Answer 796

First line --> sodium valporate second line --> lamotrigine

Answer 797

--> Sudden brief muscle contractions - like a sudden jump --> patients usually awake --> part of juvenile myoclonic epilepsy

Answer 798

first line --> sodium valporate other options ---> lamotrigine, levetiracetam, topiramate

Answer 799

seizures that occur in children whilst they have a fever

Answer 800

--> not caused by epilepsy or other underlying neurological pathology (such as meningitis or tumours) --> only occur in chidlren between 6 months and 5 years --> do not cause lasting damage --> 1 in 3 will have another febrile convulsion --> having febrile convulsions slightly increases the risk of developing epilepsy in the future

Answer 801

--> Good history - excluding other pathology - vasovagal or febrile convulsions --> EEG - after second tonic-clonic seizure --> MRI brain - diagnose structural problems with the brain such as tumours - consider when its the first seizure under 2 years old, focal seziures, no response to first line anti-epileptics --> ECG - exclude problems witht he heart --> blood electrolytes --> blood glucose - hypoglycaemia and diabetes --> blood cultures, urine cultures and lumbar puncture where sepsis, encepahlitis or meningitis is suspected

Answer 802

sodium valporate

Answer 803

lamotrigine

Answer 804

--> medical emergency --> seizures lasting more than 5 mins or 2 or more seizures without regaining concioussness

Answer 805

--> Secure the airway --> Give high-concentration oxygen --> Assess cardiac and respiratory function --> Check blood glucose levels --> Gain intravenous access (insert a cannula) --> IV lorazepam, repeated after 10 minutes if the seizure continues If the seizures persist the final step is an infusion of IV phenobarbital or phenytoin. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate.

Answer 806

Buccal midazolam rectal diazepam

Answer 807

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.