Paediatrics Flashcards
Which disease refers to infection of the lung tissue?
Pneumonia
What does pneumonia cause in the lung tissue?
Inflammation of the lung tissue
sputum fills the airways and the alveoli
What are the Risk factors for Pneumonia?
Immunocompromise
IV Drug User
Age Extremities
HIV (w/ P Jurovecci)
What are the three types of Pneumonia
Community
Hospital
Aspirational
What is Aspirational Pneumonia
Food aspirates up into airways instead of down
What can pneumonia be seen as on a CXR?
Consolidation and Air Bronchogram
What are the Bacterial causes of Pneumonia?
- S. Pneumonia
- Group A strep (S.Pyogenes)
- Group B strep
- S.Aureus
- H. Influenza
- Mycoplasma pneumonia
- Chlamydia Pneumonia
What does S Aureus cause in Pneumonia?
Pneumatocoeles- round air filled cavities and consolidations in multiple lobes
What are two common causatives of Pneumonia in unvaccinated children?
Group B Strep
H. Influenzae
What are the causes of Atypical Pneumonia
M. Pneumoniae
C. Pneumoniae
C. Psitacci
Legionella
What is the presentation of Typical pneumonia?
Purelent Cough
Rusty Sputum
High fever (> 38.5ºC)
Dyspnoea
Lethargy
Delirium
What is the presentation of Atypical Pneumonia?
Dry Cough
Low grade Fever
Dyspnoea
Lethargy
Delirium
What are the signs of pneumonia?
Tachypnoea (raised respiratory rate)
Tachycardia (raised heart rate)
Hypoxia (low oxygen)
Hypotension (shock)
Fever
Confusion
What is sepsis 6?
Three Tests:
Blood lactate level
Blood cultures
Urine output
Three Treatments:
Oxygen Sats 94-98% (or 88-92% in COPD)
Empirical broad-spectrum antibiotics
IV fluids
What are the three characteristic chest signs seen in pneumonia?
BRONCHIAL BREATHING
These are harsh breath sounds that are equally loud on inspiration and expiration. These are caused by consolidation of the lung tissue around the airway.
BIBASAL COARSE CRACKLES
Caused by air passing through sputum similar to using a straw to blow into a drink.
DULL PERCUSSION
Due to lung tissue collapse and/or consolidation.
What are the investigations for pneumonia?
1st) Chest X-Ray
Other
- Sputum cultures and throat swabs
- Blood cultures - sepsis
- Capillary blood gas analysis - monitor respiratory or metabolic acidosis and blood lactate levels in unwell patients
What is the management for pneumonia?
02 Sats, Antibiotics and Fluids
1) Amoxicillin
2) Add Macrolide (Clarithromycin)
Severe) IV Clarithromycin
Pen Allergic) Macrolide Monotherapy
B-Lactam Resistant) Clarithromycin
Which tests can be done for recurrent lower respiratory tract infections?
- FBC
- Chest X Ray
- Serum Ig
- Sweat test to check for cystic fibrosis.
- HIV test, especially if mum’s status is unknown or positive.
What is Immunoglobulin Class Switch Recombination Deficiency?
Some patients are unable to convert IgM to IgG, and therefore cannot form long-term immunity to that bug.
In this case you test Ig vs Previous Vaccines
What is croup?
Acute URTI affecting young children - 6months to 2 years
What does croup cause in the larynx?
URTI leads to oedema in the larynx (Laryngeoadema)
What are the causes of Viral croup?
Parainfluenza virus
Influenza virus
Adenovirus
Respiratory Syncytial Virus (RSV)
Diphtheria
What are the signs of Acute Respiratory Distress?
- Retractions
- Tracheal Tug
- Intercostal Reccession
- Accessory Muscle Breathing
- Nasal Flaring
What is the presentation of croup?
Barking Cough
Hoarse Voice
Stridor
Acute Respiratory Distress
- Retractions
- Tracheal Tug
- Intercostal Reccession
- Accessory Muscle Breathing
- Nasal Flaring
What is the management of croup?
MILD
- Self Limiting
MODERATE
- Dexamethasone Single Dose 150mcg
SEVERE
1) Oral dexamethasone
2) Oxygen
3) Nebulised budesonide
4) Nebulised adrenalin
5) Intubation and ventilation
What scoring system is used in Croup?
Westley score
What are the parameters of the Westley Score?
Consciousness / 5
Cyanosis / 5
Stridor / 5
Retractions / 3
Air Entry / 2
How is Croup Diagnosed?
Clinical
X Ray = Steeple Sign
Stridor on Auscultation
DO NOT EXAMINE AIRWAYS
What xray sign is charecteristic of Croup
Steeple Sign - Subglottal Narrowing (Wine Bottle Shape)
What is Bacterial Croup?
A Superinfection affecting the airways (Bacterial Tracheatis)
What investigations can be done for suspected bacterial croup
Clinical
Lateral Neck X Ray
- Steeple Sign
- Tracheal Secretions
Bronchoscopy
Labs and Cultures
What can be seen on Bronchoscopy for Bacterial Croup?
- Inflamed Mucosa
- Thick Purulent S ecretions
- Pseudomembrane
How do you manage bacterial Croup
1) Intubation and Suction
2) IV Flucloxacillin/ Ceftriaxone
3) ICU and Support
What immunoglobulin is raised in Asthma?
IgE
What is an acute exacerbation of asthma characterised by?
Rapid deterioration of symptoms of asthma
Give examples of what an acute exacerbation of asthma may be triggered by?
–> infection
–> exercise
–> cold weather
What is the presentation of an acute asthma exacerbation?
- Progressively worsening shortness of breath
- Respiratory distress
- Fast respiratory rate (tachypnoea)
- Expiratory wheeze and chest tightness on auscultation
What is an ominous sign in asthma exacerbations?
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
How can the severity of acute exacerbations be graded?
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
What are the Moderate features of an Asthma Exacerbation?
- Peak flow >50% predicted
- Normal speech
- No other features
What are the Severe features of an Asthma Exacerbation?
- Peak flow <50% predicted
- Saturations <92%
- Unable to complete sentences in one breath
- Resp distress w/ RR >30
- Heart rate >125
What are the Life Threatening features of an Asthma Exacerbation?
- Peak flow <33% predicted
- Saturations <92%
- Poor resp effort and Hypotension
- Silent chest
- Cyanosis
- Confusion
Describe the stepwise management of acute asthma attack
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
How can mild cases of acute asthma exacerbations be treated
Managed as an outpatient with regular salbutamol inhalers via a spacer (e.g. 4-6 puffs every 4 hours)
Describe the stepwise management of acute asthma exacerbations for moderate to severe cases
Nebulised SABA (10 Puffs/every 2 hours)
PO Prednisolone
Nebulised Ipratropium w/ Magnesium Sulfate
IV Aminophyline
Intubation and Ventilation
What should be monitored whilst a patient gets high doses of salbutamol and what are other side effects?
Serum potassium
- Salbutamol causes potassium to be absorbed from the blood into the cells
Can also cause Tachycardia and Tremor
Which asthma medication is known to trigger nightmares?
Montelukast
What is asthma?
Chronic inflammatory airway disease leading to reversible airway obstruction in response to a stimulus and causing bronchoconstriction
What is the presentation suggestive of a diagnosis of asthma?
- 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
What presentation is suggestive of a non-asthma diagnosis?
- 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
What Hypersensitivity reaction can trigger Asthma Attack?
Type 1 Hypersensitivity
What are the typical triggers of asthma?
Dust (house dust mites)
Animals
Cold air
Exercise
Smoke
Food allergens
How is a diagnosis of asthma made?
- 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)
What is the stepwise management of asthma in under 5’s
1) SAB2A
2) Low ICS Inhaler
3) Moderate ICS Inhaler
4) LTRA (Montelukast)
What is the stepwise management of asthma in 5-16 Years?
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
What is MART Therapy?
ICS w/ Long acting Beta 2 Agonist
How do you establish complete control of asthma?
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.
What should you offer to a child who has established complete control of Asthma?
Influenza Vaccine - If after long period of steroid use do to risk of immunocompromisation
What is a viral-induced wheeze?
Wheezy illness caused by a viral infection.
What organisms can cause a viral induced wheeze?
RSV
Rhinovirus
Influenza Virus
What is the pathophysiology of viral-induced wheeze?
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
How can you differentiate between asthma and a viral-induced wheeze?
- 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
What is bronchiolitis usually caused by?
RSV - respiratory syncytial virus
Parainfluenza
Influenzae
Adenovirus
Rhinovirus
What is the presentation of a viral-induced wheeze?
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
Why is a viral infection in adults less noticeable than in children?
Adults have larger airways so inflammation and mucus production doesn’t cause a problem whereas children have smaller airways to begin with.
What does a focal wheeze suggest?
Inhaled foreign body or tumour or infection
In what age bracket does bronchiolitis occur in?
3 Months to 1 Year
What is the management of a viral-induced wheeze?
Mild = Self Resolving
Severe
1) SABA (10 Puffs)
2) + ICS (200mg Beclametesone)
3) LTRA (Montelukast)
What is the presentation of bronchiolitis?
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
What are the signs of respiratory distress?
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
What are some differentials for Wheeze?
Allergies
Asthma
Anaphylaxis
Foreign Body
Viral Infection
Bronchiectasis
Bronchiolitis
Bronchitis
Cystic Fibrosis
Pneumonia
What is a wheeze?
–> Wheezing is a whistling sound caused by narrowed airways, typically heard during expiration
What are some differentials for Stridor?
Laryngomalacia
Laryngospasm
Vocal Paralysis
Croup
Epiglotitis
GORD
Trauma/ Tumour
What is bronchiolitis?
inflammation and infection of the bronchioles (small airways of the lungs)
What is stridor?
–> Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup
What is the typical course of bronchiolitis in children?
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.
What happens to the Bronchioles and Alveoli in Bronchiolitis?
Bronchioles
- Mucus Build Up
- Inflammation
Alveoli
- Alveolar Collapse
- Hyperinflation
what are the causes of clubbing in children?
–> Hereditary clubbing
–> Cyanotic heart disease
–> Infective endocarditis
–> Cystic fibrosis
–> Tuberculosis
–> Inflammatory bowel disease
–> Liver cirrhosis
What is the management of bronchiolitis?
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
What can cause Bronchiolitis Obliterans?
Transplant
Recurrent Infections
Typically triggered by Adenovirus
How can you investigate Bronchiolitis Oblieterans?
Severe scarring in a Mosaic Pattern on High Res CT
How can you manage Bronchiolitis Oblieterans?
IM Palivizumab
What are the investigations for CF?
Genetic Testing (Amniocentesis/ Chorionic Villous for CFTR)
Newborn Blood Spot/ Heel Prick (Trypsinogen)
Faecal Elastase = Negative
Gold = Sweat Test (NaCl >60mmol/L)
How can you assess ventilation in children e.g severe rep distress?
Capillary blood gases
What are the key colonisers in the airways of CF patients?
- Staph aureus - given prophylactic flucloxacillin to prevent staph
- Pseudomonas - Resistant to many types of abx, ciprofloxacin can be used
What are useful signs of poor ventilation from capillary blood gas?
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.
What is the management of CF?
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
What can be given to high-risk babies which target RSV?
Palivizumab - monoclonal antibody
- Monthly injection
- Passive protection for high-risk (ex-premature or congenital heart disease)
What is epiglottitis?
Inflammation and swelling of the epiglottis and can swell to the point where airway is obstructed completely
What is cystic fibrosis?
- Autosomal recessive condition affecting the mucus glands, Mutation of the CFTR gene on chromosome 7
- CFTR codes for chloride cellular channels
What is epiglottitis normally caused by?
Haemophilus influenza type B infection
What are the key presentations of cystic fibrosis
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
Other than HiB Infection, what are some other causes of Epiglotitis
Bacterial
- S Pneumoniae and S Pyogenes
Viral
- Varicella Zoster and Herpes
Trauma
- Inflammation
Irritants
- Smoking and Pollution
What is the presentation of a child that suggests possible epiglottitis?
5 Ds FT
Dysphagia
Dysphonia
Drooling
Dehydration
Distress (Respiratory)
Fever
Tripoding
What are the investigations for epiglottitis?
1) DO NOT EXAMINE AIRWAYS
2) ENT and Anaethesia
3) Lateral neck x-ray = Thumb Sign
What are the signs of CF?
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distension
What is the management of epiglottitis?
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
Give two preventative measures in Epiglottitis
H Influenza B Vaccine
Rifampicin for Close Contacts
What is an atrial septal defect?
–> hole in the septum between the two atria
What is the pathophysiology of atrial septal defects?
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
What is Eisenmenger syndrome?
Pulmonary Hypertension
- Right Sided Overload = Right Ventricular Hypertrophy
- Increased Right sided Pressure = Reversal of Shunt
- Right to Left Shunt = Cyanosis (Eisenmenger)
What are the complications of an atrial septal defect
Stroke (VTE Shunts from right to left)
Arrythmia (Atrial Flutter/Fibrillation)
Pulmonary Hypertension
Heart Fail
What is the presentation of ASD’s?
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
What is the management of ASD’s
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
What is a VSD?
congenital hole in the septum between the two ventricles
What are the underlying genetic conditions associated with VSDs?
Downs syndrome
Turners syndrome
What is the pathophysiology of VSD’s?
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)
What is the presentation of VSD?
Small = Asymptomatic
Large = Failure to Thrive/ Pansystolic Murmur
Cyanotic = Right Ventricular Hypertrophy and Eisenmenger
What are the examination findings in patients with VSD’s?
Pan systolic murmur heard at the lower left sternal border may be a systolic thrill on palpation
What are the other differentials for a pan-systolic murmur?
-VSD
Mitral regurgitation
Tricuspid regurgitation
What is the treatment of a VSD?
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.
What is a patent ductus arteriosus?
When the Ductus Artriosus does not close <3 days after birth
What is a risk factor for a patent ductus arteriosus?
Prematurity
How can an asymptomatic patent ductus arteriosus be picked up in adult life?
Signs of heart failure
Machine like Murmur
What is the pathophysiology of a patent ductus arteriosus?
–> 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.
What is the presentation of a patent ductus arteriosus?
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
what type of murmur can be heard in a patent ductus arteriosus?
Continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound, making the second heart sound difficult to hear.
How is the diagnosis of PDA made?
Echocardiogram - can also assess the hypertrophy effects on the heart
What is the management of PDA?
<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
What is a feature of Persistant Patent Ductus Arteriosus?
A persistent patent ductus arteriosus (PDA) in a paediatric patient may result in a collapsing pulse due to increased pressure gradients across the defect.
What is the coarctation of the aorta?
Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch at the Ductus Arteriosus
Which genetic condition is coarctation of the aorta associated with?
Turners syndrome
What is the pathophysiology of coarctation of the aorta
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
What is the presentation of aortic coarctation?
- 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
What is the management of aortic coarctation?
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
What is the tetralogy of Fallot?
Congenital condition with four coexisting pathologies:
–> VSD
–> Overriding aorta
–> pulmonary valve stenosis
–> right ventricular hypertrophy
What is the pathophysiology of the tetralogy of Fallot?
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.
Which feature of Tetrology of Fallot is the greatest indicator for Severity?
Pulmonary Valve Stenosis
- the greatest determinant of the magnitude of the shunt, and accordingly, the degree of cyanosis
What are the risk factors of tetralogy of Fallot?
Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother
What are the investigations for the tetralogy of Fallot?
Chest X-Ray = Boot Shaped Heart
Gold = ECHO w/ Doppler Studies
What is the presentation of the tetralogy of Fallot?
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
What are tet spells in tetralogy of Fallot?
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.
What are the treatment options for tet spells in tetralogy of Fallot?
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.
What is the management of the Tetralogy of Fallot?
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%.
What is transposition of the great arteries?
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.
Which conditions is transposition of the great arteries associated with?
Ventricular septal defect
Coarctation of the aorta
Pulmonary stenosis
What is the pathophysiology of the transposition of the great arteries?
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.
What is the presentation of the transposition of the great arteries?
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
What is the management of the transposition of the great arteries?
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.
What are the differential diagnosis of cyanotic lesions (right –> left shunt)
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
What is rheumatic fever?
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.
In whom does rheumatic fever normally occur?
between 5-15 years old
more girls affected then boys
What is the pathophysiology of rheumatic fever?
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
What is the presentation of rheumatic fever?
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
what are the investigations for rheumatic fever?
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.
What criteria is used to diagnose rheumatic fever?
Jones criteria
What is the Jones criteria?
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)
What is the management of rheumatic fever?
1) Immediate Referral
Infection? Phenoxymethylpenicillin for 10 days
Joint Pain? NSAID’s
Carditis? Aspirin and Steroid
2) Prophylactic Penicillin
What are the complications of rheumatic fever?
–> Recurrence of rheumatic fever
–> Valvular heart disease, most notably mitral stenosis
–> Chronic heart failure
What is infective endocarditis?
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.
What are the risk factors for endocarditis?
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)
What are the causes of infective endocarditis?
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
What is the presentation of infective endocarditis?
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)
What are the investigations for infective endocarditis?
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
Which criteria can be used to diagnose infective endocarditis?
Modified Dukes criteria
What is the modified Dukes criteria?
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)
What is the management of infective endocarditis?
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
When is Valve Replacement indicated in Infective Endocarditis?
Heart failure relating to valve pathology
Large vegetation or abscesses
Infections not responding to antibiotics
What are the complications of infective endocarditis?
Heart Fail 2nd to Regurgitation
Aortic Root Abscess (Prolonged PR)
Septic Emboli/ Sepsis
-Suspect Acute Mesenteric Ischaemia
If an ECG shows PR Prolongation in Infective Endocarditis, What is the cause and managent?
Aortic Root Abscess - Need urgent Cardiothoracic Assessment/ Surgery
In patients who are at high risk of infective endocarditis, what is the advice?
Good oral health to reduce the risk of IE, streptococcus viridans
What is GORD?
Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth
Why are babies more susceptible to GORD?
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.
What is the presentation of GORD in babies?
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
What is the Presentation of GORD in Children (Not Babies)?
- Heartburn
- Acid regurgitation
- Retrosternal or epigastric pain
- Bloating
- Nocturnal cough
- Hallitosis
What are some possible causes of vomiting in children?
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
What are the red flags for vomiting in children?
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
What is the management of GORD in babies?
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
What are some risk factors for Pyloric Stenosis?
Prematurity
Age 6-8 weeks
Male
Caucasian
What is the pathophysiology of pyloric stenosis?
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”.
What are the features of pyloric stenosis?
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
How can pyloric stenosis be diagnosed?
Abdominal ultrasound to visualise the thickened pylorus
May feel a “large olive” after feeding in the abdomen
What is the mainstay treatment of pyloric stenosis?
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.
How do you initially manage a child with pyloric stenosis without surgical intervention?
Nil By Mouth
Dehydrated? IV Fluids
Severe Dehydration? Acute Fluid Resus w/ Electrolyte correction
If there is no significant underlying cause for constipation what can it be described as?
Idiopathic/ Functional constipation
Give examples of secondary causes of constipation
Hirschsprung’s disease
CF (meconium ileus)
Hypothyroidism
Spinal cord lesions
Sexual abuse
Intestinal obstruction
Anal stenosis
Cows milk intolerance
What is the presentation of constipation?
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
Whats encopresis?
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.
What are some lifestyle factors that can contribute to the development of constipation?
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)
Why can rectum desensitisation occur in constipation?
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.
What are the red flags of constipation?
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)
What are the complications of constipation?
Pain
Reduced sensation
Anal fissures
Haemorrhoids
Overflow and soiling
Psychosocial morbidity
What is the management of constipation?
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
What is the pathophysiology of appendicitis?
–> 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
What is the cause of Appendicitis?
Obstruction at the point where the appendix meets the bowel from caecum
What are the signs and symptoms of appendicitis?
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
How is the diagnosis of appendicitis made?
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
What are some key differential diagnosis of appendicitis?
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.
How do you manage Appendicitis w/o signs of Peritonitis?
IV Fluids and IV ABx w/ Elective Appendiectomy
What is the management of acute appendicitis?
Appendiectomy w/ IV ABx 24hrs or Laparotomy
What are the complications of appendiectomies?
Bleeding, infection, pain and scars
Small Bowel Obstruction
Removal of a normal appendix
Anaesthetic risks
Venous thromboembolism (deep vein thrombosis or pulmonary embolism)
What is a Periappendicular Abscess?
Abcess formed in the presence of appendicitis charecetrised by Swinging Fever
How do you manage an appendicular mass?
Drainage as antibiotics cannot target bacteria in abscess
What is inflammatory bowel disease an umbrella term for?
Inflammation of the walls in the GI tract W/ periods of remission and exacerbations
- Ulcerative colitis
- Chrons disease
What are the features of Crohn’s disease?
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.
What are the features of UC?
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
What is the presentation of inflammatory bowel disease in Children?
Perfuse diarrhoea
Abdominal pain
Bleeding/ Anaemia
Weight loss
Systemically unwell during flares, with fevers, malaise and dehydration
What are the extra-intestinal manifestations of inflammatory bowel disease?
Apthous Mouth Ulcers (Crohn’s)
Finger clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (ulcerative colitis)
How can you test for inflammatory bowel disease?
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
What causes Crohn’s Disease?
NOD-2 Mutation resulting in the release of TNF Alpha, IL1 and IL6
What do you see in the investigations for Crohn’s?
pANCA = Negative
Calprotectin = Raised
Endoscopy
- Skip Lesions
- Cobblestone Mucosa
- String Sign Strictures
Biopsy
- Transmural Inflammation
- Non Caseating Granulomas
What can you see on Endoscopy and Biopsy in Crohn’s?
Cobblestone Mucosa w/ Skip Lesions
String Sign Strictures
Transmural inflammation
Non Caseasting Granulomas
Describe the presentation of Crohn’s
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
What is the management of Crohn’s disease?
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
What are some complications of Crohn’s?
Peri-anal Abscess
- Anal gland infection
Anal Fistula
- Abnormal tracks from Anus
Anal Strictures
Small Bowel Obstruction
What is Ulcerative Collitis?
Autoimmune Inflammation of the colon Only
What is the Presentation of Ulcerative Collitis
General
Left Lower Quadrant Pain
Tenesmus
Fever
Extra-Intestinal
Spondyloarthropathies
Uveitis/ Episcleritis
Pyoderma Gangrenosum
Erythema Nodosum
Primary Sclerosing Cholangitis
What do you see in the Investigations for Ulcerative Collitis?
pANCA = Positive
Calprotectin = Raised
Colonoscopy
- Continuous Inflammation
- Lead Pipe Sign
Biopsy
- Dry Mucosal Inflammation
- Crypt Hyperplasia
- Goblet Cell Depletion
What do you see on colonoscopy and biopsy of Ulcerative collitis?
Continuous Inflammation w/ Lead Pipe Sign
Mucosal Inflammation
Crypt Hyperplasia
Goblet (Mucin) Cell Depletion
What Criteria is used in Ulcerative collitis
True Love and Witts
What is the management of Ulcerative colitis?
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
What is Toxic Megacolon?
Dilated colon 2nd to Ulcerative Collitis where the patient does not respond to IV Steroids for 3+ days
Diagnose w/ Abdominal X Ray
What is the pathophysiology of coeliac disease?
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)
What is the presentation of coeliac disease?
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
Patients diagnosed with type 1 Diabetes should also be tested for what and why?
Coeliac disease as they are often linked
What are the genetic associations of Coeliac disease?
HLA-DQ2 gene (90%)
HLA-DQ8 gene
what are the investigations for Coeliac disease?
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
Which conditions are associated with coeliac disease?
Type 1 diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome
What are the complications of untreated coeliac disease?
Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative Jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)
What is the treatment of coeliac disease?
1) Stop Gluten
2) Replace Mineral/ Vitamin Deficiency
3) Monitor Osteoporosis w/ DEXA (Older Patient)
What other disease can a SPRUE Biopsy Indicate other than Coeliac?
Tropical Sprue
- Enteropathy w/ Tropical travel
- Managed w/ Tetracycline
What is Hirshsprung’s disease?
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
What is the myenteric plexus?
Part of the enteric nervous system and is responsible fo peristalsis of the large bowel
What is the pathophysiology of Hirshprungs disease?
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
What are the risk factors of Hirschprung’s disease?
Family history
Downs syndrome
Which diseases is Hirshprung’s disease associated with?
- 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
What is Waardenburg Syndrome?
Genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair associated w/ Hirschprung’s
What is the presentation of Hirsphrung’s disease?
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
What is Hirshprung - Associated Enterocolitis?
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
What investigations can be done for Hirschprung’s?
Abdominal X Ray - Intestinal Obstruction
Rectal Biopsy w/ Histology = Gold
What is the management of Hirsphrung’s disease?
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
What is intussusception and pathophysiology
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
In whom is intussusception most common in?
- 6 months to 2 years
- Males
Which conditions are associated with intussusception
Concurrent viral illness
Henoch-Schonlein purpura
Cystic fibrosis
Intestinal polyps
Meckel diverticulum
What is the presentation of intussusception?
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)
How is the diagnosis of intussusception made?
Gold = USS
- Target Sign/ Concentric (hypo) echogenic bands
-
Contrast Enema
How is Intussusception managed?
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
What are the Complications of Intussusception?
Obstruction
Gangrenous bowel
Perforation
Death
What is Bililary Atresia?
Congenital condition in which a section of the bile duct is either narrowed or absent.
What are the two types of Billiary Atresia?
- Perinatal (Acquired) - Symptoms <3 weeks post birth
- Fetal (Embryonic) - Undeveloped Bile ducts = Earlier Symptoms
What is the patho of biliary atresia?
- 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
What is the presentation of biliary atresia?
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)
What are the investigations for biliary atresia?
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)
Give an example of another Benign cause of jaundice
Breast Milk Jaundice
What is the management of biliary atresia?
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
What are the complications of biliary atresia?
- Ascending Cholangitis
- Portal Hypertension
- Cirrhosis which can lead to HCC
What is Acute Gastritis?
Inflammation of the stomach
What does Acute Gastritis present with?
- Nausea and vomiting
- Indigestion
What does enteritis mean?
Inflammation of the Intestines
What does enteritis present with
Diarrhoea
What is gastroenteritis?
Inflammation from the stomach to the intestines
- Presents with nausea, vomiting and diarrhoea
Whats the most common cause of gastroenteritis?
Viral cause (Rotavirus/norovirus)
Whats the main concern with paediatric gastroenteritis?
Establishing if they can keep themselves hydrated
What are the differential dignoses of gastroenteritis?
Infection (Gastroenteritis)
Inflammatory bowel disease
Lactose intolerance
Coeliac disease
Cystic fibrosis
Toddler’s diarrhoea
Irritable bowel syndrome
Medications (e.g. antibiotics)
What are the causative agents for viral gastroenteritis
- Rotavirus
- Norovirus
- Adenovirus
Name other causative agents of gastroenteritis
- E.Coli
- Campylobacter jejuni
- Shigella
- Salmonella
- Bacillus Cereus
- Yersinia enterocoliticia
- Staphylococcus Aereus toxin
- Giardiasis
Why should antibiotics be avoided if E.coli gastroenteritis is suspected?
Increases the risk of the haemolytic uraemic syndrome
What are the symptoms of E.coli gastroenteritis?
E.coli produces the shiga toxin
Causes abdominal cramps, bloody diarrhoea and vomiting.
Which bacteria normally causes travellers diarrhoea?
Campylobacter jejuni
How is campylobacter jejuni spread (traveller’s diarrhoea)
- Raw or improperly cooked meats/ BBQ
- Untreated water
- Unpasteurised milk
What are the symptoms of Campylobacter jejuni gastroenteritis?
Abdominal cramps
Diarrhoea often with blood
Vomiting
Fever
Which antibiotics can be considered for campylobacter jejuni gastroenteritis?
Azithromycin
Ciprofloxacin
How is salmonella spread?
Eating raw eggs/ poultry/ food contaminated with the infected faeces of small animals
What are the symptoms of gastroenteritis caused by salmonella?
Watery diarrhoea with mucus or blood, abdominal pain and vomiting
Which toxin does staphylococcus Aureus produce which causes gastroenteritis symptoms?
Enterotoxins - causes small intestine inflammation and causes diarrhoea, perfuse vomiting and abdominal cramps and fever
What is the pathophysiology of Giardiasis?
Microscopic parasite
- Lives in the small intestine of mammals
- Release cysts in the stool of infected animals
- Faecal-oral transmission
- Can cause chronic diarrhoea
What can giardiasis be treated with?
Metronidazole
What are the principles of gastroenteritis management?
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
Name some post-gastroenteritis complications
Lactose intolerance
Irritable bowel syndrome
Reactive arthritis
Guillain–Barré syndrome
what does failure to thrive refer to?
–> poor physical growth and development in a child
How do the NICE guidelines define faltering growth in children?
- 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
What are the causes of failure to thrive?
- Inadequate nutritional intake
- Difficulty feeding
- Malabsorption
- Increased energy requirements
- Inability to process nutrition
What are the causes of inadequate nutritional intake (failure to thrive)
Maternal malabsorption (Breastmilk)
Iron deficiency anaemia
Family or parental problems
Neglect
Availability of food (i.e. poverty)
What are the causes of difficulty feeding (failure to thrive)
Poor suck, for example, due to cerebral palsy
Cleft lip or palate / Genetic Malformation
Pyloric stenosis
What are the causes of malabsorption (failure to thrive)
Cystic fibrosis
Coeliac disease
Cows milk intolerance
Chronic diarrhoea
Inflammatory bowel disease
What are the causes of increased energy requirements (failure to thrive)
Hyperthyroidism
Chronic disease (congenital heart disease and cystic fibrosis)
Malignancy
Chronic infections (HIV or immunodeficiency)
IWhat causes the Inability to process nutrients properly (failure to thrive)
Inborn errors of metabolism
Type 1 diabetes
How do you carry out an assessment in failure to thrive patients?
- 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
What are the investigations in children who fail to thrive?
Urine dipstick (UTI)
Coeliac screen (anti-TTG or anti-EMA antibodies)
History suggestive of underlying cause
What is the management for faltering growth?
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.
What is the pathology of meckles diverticulum
Abnormal pouch on the antimesenteric side of the ileum due to failed obliteration of the Vitellin/ Omphalomesenteric duct
+/- Ectopic Epithelia
What are the rule of 2 features in Meckle’s Diverticulum?
2:1 Male to Female ratio
2 cm in length
2 feet proximal to caecum
2% of population
What is a true diverticulum
contains all three layers of the intestinal wall
What are the complications of Meckles Diverticula?
Ulcers from HCI secretion
Perforation
Food impaction
Peritonitis/Peritoneal adhesions
Intussusception/ volvulus
What are the signs and symptoms of meckels diverticula?
Asymptomatic
Painless Rectal Bleeding
Abdominal pain/distention
Billious Vomiting
Constipation
How is the diagnosis of Meckles diverticula made?
Incidental (Abdo USS or CT or Surgery)
Technitium 99 scan
What might you see on Ultrasound for Meckle’s Diverticulum?
Small fluid filled pouch @ distal small intestine
What is the treatment for Meckles diverticulum?
Surgical resection
NG Tube if Acutely unwell
What is cows milk protein allergy?
Hypersensitivity reaction vs proteins in cow’s milk affeting under 3’s
What is the pathophysiology of cows milk protein allergy?
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
In whom is Cow’s milk protein allergy more common in?
Formula fed babies
History of Atopy
What is the presentation of cow’s milk protein allergy?
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
What is the management of cows’ milk protein allergy?
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
How is cows milk protein allergy diagnosed?
1) History and examination
2) Skin prick testing
Gold = Avoiding cow’s milk should fully resolve the symptoms
Whats the difference between Cow’s milk intolerance and Cow’s milk allergy?
Intolerance = No Allergic Features
Allergy = Allergic Features
Allergic Features
Rash, Angioedema, Sneezing and Coughing
Describe the process of Bilirubin Excretion
RBC Breakdown
Blood = Haem and Unconjugated Bilirubin
Liver = Unconj. Bilirubin converted to Conjugated
GI Tract/ Urine = Excretion
Describe why physiological jaundice can occur
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
What are the causes of neonatal jaundice
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
When is Jaundice seen as pathological in a neonate?
When its presents in the first 24 hours of life - urgent investigations and management needed
Why might jaundice present in the first 24 hours of life in a neonate?
Neonatal sepsis
Why is physiological jaundice exaggerated in premature neonates?
Immature Liver
What does physiological jaundice in premature neonates increase the risk of?
Kernicterus - brain damage due to the high bilirubin levels crossing B-B Barrier
Why are babies who are breastfed more likely to develop jaundice?
Components of Breastmilk
- inhibit the ability of the liver to process bilirubin
Inadequate Feeding
- Risk of Dehdration
- Slow stool passage = bilirubin absoprtion in intestines
Which disease is a cause of haemolysis and jaundice in neonates?
Haemolytic disease of the new born
What causes haemolytic disease of the newborn?
Incompatibility between the rhesus D antigens on the surface of RBC of the mother and fetus
What is the pathophysiology of haemolytic disease of the newborn
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
When is jaundice termed as prolonged?
More than 14 days in full-term babies
More than 21 days in premature babies
Which investigations should be carried out for neonatal jaundice?
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
what is the management of neonatal jaundice?
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
What is kernicterus
Brain damage caused by excessive bilirubin levels
What is the pathophysiology of kernicterus?
1) Bilirubin crosses the blood brain barrier
2) Direct damage to the central nervous system
Permanent CNS Damage? Cerebral Palsy, LD and Deafness
What is the presentation of kernicterus?
- Less responsive
- Floppy/ Drowsy baby
- Poor feeding
What are some medical causes of abdominal pain in children?
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
Name some surgical causes of abdominal pain
- 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
What are the red flags for serious abdominal pain?
Persistent/ Bilious vomiting
Severe chronic diarrhoea
Fever
Rectal bleeding
Weight loss or faltering growth
Dysphagia (difficulty swallowing)
Night time pain
Abdominal tenderness
Name some initial investigations that may indicate abdominal pathology
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
What is infantile colic?
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
what happens in acute pyelonephritis?
Complicated UTI
Ascending Bacetrial Infection that affects the tissue of the kidney
Scarring of the tissue w/ reduction in kidney function
what is cystitis?
Inflammation of the bladder
What are the symptoms of a UTI?
–> 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
How is a diagnosis of acute pyelonephritis made?
A temperature greater than 38°C
Loin pain or tenderness
how should a sample for urine dipstick be taken?
Clean catch sample
- Straight into bottle
- Urine Collection Pad> Bag
- In and Out Catheter
- Suprapubic Aspiration
What do the results on a urine dipstick show?
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
What investigations should be carried out for acute UTI’s
1) Urine dipstick
2) MSU sample to the microbiology lab to be cultured and have sensitivity testing.
whats the management for UTI’s
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
What are the investigations for recurrent UTI’s?
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
What is nocturnal and diurnal enuresis?
nocturnal enuresis - unable to control bladder at night
Diurnal enuresis - unable to control the bladder function during the day
Whats the difference between primary and secondary nocturnal enuresis?
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
What are the causes of primary nocturnal enuresis?
–> 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
What is the management of primary nocturnal enuresis?
–> 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
What are the causes of secondary nocturnal enuresis?
Urinary tract infection
Constipation
Type 1 diabetes
New psychosocial problems (e.g. stress in family or school life)
Maltreatment - deliberate bedwetting
How is secondary nocturnal enuresis managed?
treating the underlying cause e.g constipation/UTI easy to treat
what are the two different types of Diurnal enuresis?
–> Urge incontinence is an overactive bladder that gives little warning before emptying
–> Stress incontinence describes leakage of urine during physical exertion, coughing or laughing.
What are some potential causes of diurnal enuresis?
Recurrent urinary tract infections
Psychosocial problems
Constipation
What is the pathophysiology of nephrotic syndrome?
–> basement membrane becomes highly permeable to protein, allowing proteins to leak from the blood into the urine
In which ages is nephrotic syndrome most common?
2 to 5 years
What does nephrotic syndrome present with?
Frothy urine
generalised oedema
pallor
What is the classic triad of features in nephrotic syndrome?
–> Low serum albumin
–> High urine protein content - >3+ protein on urine dipstick
–> oedema
Name 3 other features of a nephrotic syndrome not in the classic triad
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
What are the causes of nephrotic syndrome in children?
–> 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
what will a renal biopsy and standard microscopy in minimal change disease show?
not able to detect abnormality
what will urinalysis of minimal change disease show?
small molecular weight proteins
hyaline casts
What is the management of minimal change disease?
–> Corticosteroids (Prednisolone)
What is the prognosis of minimal change disease?
The prognosis is good and most children make a full recovery, however it may reoccur.
What is the general management of nephrotic syndrome?
–> 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.
What are the complications of nephrotic syndrome?
–> 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
what is hypospadias?
Congenital condition affecting males where the urethral meatus is abnormally displaced to the ventral side of the penis towards the scrotum
Where might the urethral meatus be abnormally displaced in hypospadias?
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.
What is the management of hypospadias?
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
What are the complications of hypospadias?
Difficulty directing urination
Cosmetic and psychological concerns
Sexual dysfunction
What is the pathophysiology of haemolytic uraemic syndrome?
–> 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
What the most common cause of haemolytic uraemic syndrome?
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.
What can increase the risk of haemolytic uraemic syndrome?
The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.
What is the presentation of haemolytic uraemic syndrome?
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
What is the management of haemolytic uraemic syndrome?
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.
What is cryptorchidism?
undescended testes
Where do the testes normally develop?
in the abdomen
Whats the path that the testes take from the abdomen to the scrotum?
through the inguinal canal into the scrotum
When should the testes migrate down to the scrotum?
prior to birth
Undescended testes in older children or after puberty hold a higher risk of what?
testicular torsion
infertility
testicular cancer
What are the risk factors for undescended testes?
Family history of undescended testes
Low birth weight
Small for gestational age
Prematurity
Maternal smoking during pregnancy
What is the management of undescended testes?
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.
what is testicular torsion?
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
What is the typical patient presenting with testicular torsion?
Teenage boy - can occur at any age
How is testicular torsion normally triggered?
activity - usually sports
What is the presentation of testicular torsion?
–> Acute rapid onset
–> unilateral testicular pain
–> may be associated with abdo pain and vomiting
–> Sometimes vomiting is the only sign
What are the examination findings of testicular torsion?
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
What is the management of testicular torsion?
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
What can be seen on ultrasound suggesting testicular torsion - even though not recommended?
Ultrasound can show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.
What is the definition of precocious puberty?
development of secondary sexual characteristics before 8 years in females and 9 years in males
in whom is precocious puberty more common?
females
What does Thelarche mean?
first stage of breast development
What does adrenarche mean?
first stage of pubic hair development
What can precocious puberty be classified into?
–> Gonadotrophin dependant/central
–> Gonadotrophin independant/ pseudo/ false
What is Gonadotrophin dependant/central/true precocious due to and what are the FSH and LH levels?
due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised
What is Gonadotrophin independent/pseudo/false precocious due to and what are the FSH and LH levels?
Gonadotrophin independent (‘pseudo’, ‘false’)
due to excess sex hormones
FSH & LH low
What are the signs in the testes for precocious puberty and which organic cause do they suggest?
bilateral enlargement = gonadotrophin release from an intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia)
What are the causes of precocious puberty in females?
usually idiopathic or familial and follows normal sequence of puberty
What can be the organic causes of precocious puberty in females?
are rare, associated with rapid onset, neurological symptoms and signs and dissonance
e.g. McCune Albright syndrome
What is congenital hypothyroidism?
The child is born with an underactive thyroid gland
Why can congenital hypothyroidism occur?
–> Underdeveloped thyroid gland (dysgenesis)
–> Fully developed thyroid gland that does not produce enough hormone (dyshormonogenesis)
–> rarely from problems with the pituitary or hypothalamus
When is congenital hypothyroidism screened for?
Newborn blood spot screening test
What can patients present with in congenital hypothyroidism?
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
What is acquired hypothyroidism?
Acquired hypothyroidism is where a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.
What is the most common cause of acquired hypothyroidism?
autoimmune thyroiditis, also known as Hashimoto’s thyroiditis.
What is the pathophysiology of Hashimoto’s thyroiditis?
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.
What is the presentation of acquired hypothyroidism?
Fatigue and low energy
Poor growth
Weight gain
Poor school performance
Constipation
Dry skin and hair loss
What are the investigations for hypothyroidism?
Investigations include full thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.
What is the management of hypothyroidism?
Levothyroxine orally once a day is used to replace the normal thyroid hormones. Doses are titrated based on thyroid function tests and symptoms.
What are the two types of hypothyroidism in paediatrics?
Acquired hypothyroidism
Congenital hypothyroidism
What is Kallman syndrome?
Cause of delayed puberty secondary to hypogonadotropic hypogonadism, it is an X-linked recessive genetic disorder.
pudiyana this penchondes a tough one
What is the pathophysiology of Kallman syndrome?
Failure of GnRH-secreting neurones migrating to the hypothalamus from olfactory placode
What are the features of Kallmann’s syndrome?
–>’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
What is the management of Kallmann’s syndrome?
testosterone supplementation
gonadotrophin supplementation may result in sperm production if fertility is desired later in life
What is Congenital adrenal hyperplasia?
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
What are the three types of steroid hormones the adrenal glands produce and what they do
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.
What is the pathophysiology of congenital adrenal hyperplasia?
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.
What is the severe presentation of congenital adrenal hyperplasia?
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
What is the mild presentation of congenital adrenal hyperplasia?
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
Why can hyperpigmentation of the skin occur in congenital adrenal hyperplasia?
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.
What is the management of congenital adrenal hyperplasia?
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
What is Andorgen insensitivity syndrome?
The X-linked recessive condition causing end-organ resistance to testosterone causing genotypically male children to have female phenotypes
What are the features of androgen insensitivity syndrome?
‘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
How can the diagnosis of androgen insensitivity syndrome be made?
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
What is the management of androgen insensitivity syndrome?
counselling - raise the child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy
What are the causes of obesity in children?
Lifestyle choices
growth hormone deficiency
hypothyroidism
Down’s syndrome
Cushing’s syndrome
Prader-Willi syndrome
What are the consequences of obesity in children?
–> 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
What is Kawasaki disease?
Systemic medium-sized vessel vasculitis
In whom does Kawasaki disease occur most commonly?
Young children - typically under 5 years
Most common in Asian children - Japanese and Korean children
Boys
Whats the cause or trigger of Kawasaki disease?
No Clear cause or trigger
What is a key complication of kawasaki disease?
coronary artery aneurysm
What are the clinical features of Kawasaki disease?
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
What are the investigations for Kawasaki disease?
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
What is the disease course of Kawasaki disease?
–> 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.
What is the management of kawasaki disease?
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.
why is aspirin usually avoided in children?
Reyes syndrome
What is the presentation of measles?
–> 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
What are the most common complications of measles?
otitis media: the most common complication
pneumonia: the most common cause of death
What is the management of measles?
mainly supportive
admission may be considered in immunosuppressed or pregnant patients
notifiable disease → inform public health
How should measles contacts be managed?
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
What is chickenpox caused by?
Varicella zoster virus VZV
What is the presentation of chicken pox?
–> 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
Describe the infectivity of chickenpox
–> 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
What are the complications of chicken pox?
–> 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.
When pregnant women are not immune to chicken pox what can be given to them after exposure?
Can be given varicella zoster immunoglobulins
What can chickenpox in pregnancy before 28 weeks gestation cause?
Congenital varicella syndrome - developmental problems in the fetus in a small portion of patients
What can chickenpox in the mother around the tiethe time of delivery cause?
life threatening neonatal infection and is treated with varicella zoster immunoglobulins and aciclovir
What is the management of chickenpox?
–> 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).
How long should children be off schoofl, avoid pregnant women and the immunocompromised?
–> until all the lesions are dry and crusted over. This is usually around 5 days after the rash appears.
What is whooping cough?
Is an upper respiratory tract infection caused by bordetella pertussis (Gram negative)
Why is pertussis referred to as whooping cough?
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.
Which members of a population are vaccinated with bordetella pertussis?
Children and pregnant women
What is the presentation of pertussis?
–> 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
How is the diagnosis of pertussis made?
–> 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.
What is the managment of pertussis?
–> 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”
What is a key complication of pertussis?
Bronchiectasis
What does encephalitis mean?
inflammation of the brain
name a non infective cause of encephalitis.
autoimmune
What are the viral causes of encephalitis?
–> 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.
What is the most common cause of encephalitis?
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.
What is the presentation of encephalitis?
–> Altered consciousness
–> Altered cognition
–> Unusual behaviour
–> Acute onset of focal neurological symptoms
–> Acute onset of focal seizures
–> Fever
How is the diagnosis of paediatric encephalitis made?
–> 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.
What is the management of encephalitis?
–> 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.
What are the complications of paediatric encephalitis?
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
What is impetigo?
superficial bacterial skin infection, caused by staphylococcus aureus bacteria
What causes impetigo?
Staphylococcus aureus bacterial infection of the skin
What is a characteristic finding of impetigo?
a golden crust on the skin
What are the school exclusion rules for impetigo?
Impetigo is contagious and children should be kept of school during the infection
What are the two classifications of impetigo?
Non-bullous and bullous impetigo
What is non-bullous impetigo?
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
How can non-bullous impetigo be treated?
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
What is bullous impetigo?
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.
in whom is bullous impetigo more common in?
neonates and children under 2 years
how is bullous impetigo treated?
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.
What are the complications of impetigo?
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
What is oral candidiasis?
Oral thrush - caused by an overgrowth of candida - fungus in the mouth - white spots or patches on the tongue or pallate
What are some common factors that can predispose someone to develop oral candiasis?
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
What are the treatment options for candidiasis?
Miconazole gel
Nystatin suspension
Fluconazole tablets (in severe or recurrent cases)
Which bacteria is responsible for Scarlet fever?
Group A haemolytic streptococci - Streptococcus pyogenes
In whom is scarlet fever common in?
It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.
What is the presentation of scarlet fever?
–> 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
How is the diagnosis of scarlet fever made?
–> A throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
What is the managment of Scarlet fever?
Oral penicillin V for 10 days
if Pen allergy then azithromycin
Children can return to school 24 hours after commencing antibiotics
Notifiable disease
What are the complications of Scarlet fever?
–> 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
What is the causative agent for Hand foot and mouth disease?
–> Coxsackie A virus
What is the presentation of hand foot and mouth disease?
–> 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/
What is the management of hand foot and mouth disease?
–> Clinical diagnosis of how the rash looks
–> No treatment - just supportive - rash and illness should resolve spontaneously in 7-10 days
–> highly contagious
What are the complications of hand foot and mouth disease?
Complications are rare
Dehydration
Bacterial superinfection
Encephalitis
What is severe combined immunodeficiency?
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.
What is the presentation of severe combined immunodeficiency?
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
What are the causes of severe combined immunodeficiency?
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
What is the management of severe combined immunodeficiency?
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.
What is meningitis?
inflammation of the meninges, caused by either bacterial to viral infection
What is meningococcal septicaemia?
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.
What is meningoccal meningitis?
Bacteria is infecting the meninges and the cerebrospinal fluid around the brain and spinal cord
What’s the most common cause of meningococcal meningitis in children and adults
Neisseria meningitidis (meningococcus) and Streptococcus pneumoniae (pneumococcus).
What’s the most common cause of meningococcal meningitis in neonates?
in neonates the most common cause is group B strep (GBS), GBS is usually contracted during birth from the mothers vag
What’s the presentation of meningitis?
–> 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
What are the special tests to look for meningeal irritation?
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.
investigations for meningitis?
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
What is the management of meningitis in children?
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.
How does the appearance of CSF in bacterial and viral meningitis differ?
Bacterial - cloudy
Viral - clear
What are the complications of meningitis?
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
What is otitis media?
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
How can bacteria reach the middle ear to cause otitis media?
Through the eustachian tube, a bacterial infection of the middle ear is usually preceded by a Viral URTI
Name the most common cause of otitis media along with other causative bacteria
Streptococcus pneumoniae - most common
Haemophilus influenzae
Moraxella catarrhalis
Staphylococcus aureus
What is the presentation of otitis media?
–> 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.
What are the investigations for otitis media?
–> 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
What is the management of otitis media?
–> 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
What are the potential complications of otitis media?
Otitis medial with effusion
Hearing loss (usually temporary)
Perforated eardrum
Recurrent infection
Mastoiditis (rare)
Abscess (rare)
What is glue ear?
known as otitis media with effusion, middle ear becomes full of lfuid and causes a loss of hearing in that ear
Why might fluid accumulate in the middle ear causing glue ear?
The eustachian tube can become blocked
What is the main symptom of glue ear?
reduction of hearing in the affected ear
What is a main complication of glue ear?
otitis media
What might be seen on otoscopy for otitis media?
dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.
What is the management of glue ears?
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.
What are grommets?
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.
What is Ezcema?
A chronic atopic condition caused by defects in the moral continuity of the skin barrier leading to inflammation of the skin
How does eczema usually present in infancy?
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.
What is the pathophysiology of eczema?
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.
What is the management of eczema?
–> 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.
what are the side effects of using topical steroids in eczema management?
–> Thinning of the skin
–> can result in telangiectasia
Which bacteria is commonly responsible for opportunistic infections in eczema?
–> Staphylococcus aureus
What is eczema herpecticum
–> 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
What is the presentation of eczema herpeticum?
–> widespread painful, vesicular rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake, there will usually be lymphadenopathy
Describe the rash that can be present in Ezcema herpecticum
–> widespread
–> erythematous, painful and itchy
–> vesicles containing pus
–> after they burst leave a small punched out ulcer with a red base
What is the management of eczema herpeticum?
–> viral swabs of the vesicles to confirm the diagnoses - although treatment usually started before
–> aciclovir - more severe cases IV aciclovir
What are the complications of eczema herpecticum?
–> can be life-threatening if the patient is immunocompromised
–> bacterial superinfection
What is stevens johnson syndrome and toxic epidermal necrolysis
–> 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
What is a risk factor for Steven Johnson syndrome and toxic epidermal necrolysis?
Certain HLA genetic types are at higher risk of SJS and TEN
What are the causes of steven johnson syndrome and toxic epidermal necrolysis?
Medications
Anti-epileptics
Antibiotics
Allopurinol
NSAIDs
Infections
Herpes simplex
Mycoplasma pneumonia
Cytomegalovirus
HIV
What is the presentation of steven johnson syndrome and toxic epidermal necrolysis?
–> 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.
What is the management of steven johnson syndrome and toxic epidermal necrolysis?
–> medical emergency
–> Good supportive care is essential, including nutritional care, antiseptics, analgesia and ophthalmology input.
–> Treatment options include steroids, immunoglobulins and immunosuppressant
What are the complications of steven johnson syndrome and toxic epidermal necrolysis?
–> 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.
What is allergic rhinitis?
–> 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
What are the different types of allergic rhinitis?
Seasonal, for example, hay fever
Perennial (year-round), for example, house dust mite allergy
Occupational, associated with the school or work environment
What is the presentation of allergic rhinitis?
Runny, blocked and itchy nose
Sneezing
Itchy, red and swollen eyes
What is allergic rhinitis associated with?
–> personal or family history of other allergic conditions - atopy
How is the diagnosis of allergic rhinitis made?
Diagnosis is usually made based on history. Skin prick testing can be useful, particularly testing for pollen, animals and house dust mite allergy.
What are the potential triggers for allergic rhinitis?
–> 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)
What is the management of allergic rhinitis?
–> 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
What is urticaria?
–> 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
What is the pathophysiology of urticaria?
-> 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
What are the causes of acute urticaria?
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)
What is chronic urticaria?
is an autoimmune condition where autoantibodies target the mast cells and trigger them to release histamines and other chemicals
What are the subsclassifications of chronic uritcaria?
Chronic idiopathic urticaria
Chronic inducible urticaria
Autoimmune urticaria
What is chronic idiopathic urticaria?
describes recurrent episodes of chronic urticaria without a clear underlying cause or trigger.
what is chronic inducible uritcaria?
–> 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
What is autoimmune urticaria?
chronic urticaria associated with an underlying autoimmune condition, such as systemic lupus erythematosus.
What is the management of urticaria?
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
What is anaphylaxis?
–> 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.
What is the presentation of anaphylaxis?
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
What is the management of anaphylaxis?
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
What should be done after an anaphylactic attack?
–> 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
What are non-blanching rashes normally caused by?
Bleeding under the skin
What is petechiae?
Small, non - blanching red spots on the skin caused by burst capillaries
What is purpura?
Larger, non-blanching, red-purple macules or papules created by leaking of blood from the vessels under the skin
What are the differential diagnoses of non-balanching rashes?
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.
What are the investigations for non-blanching rashes?
–> 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.
What is anemia?
Low levels of haemoglobin in the blood
Result of an underlying disease
What are the causes of anaemia in infancy?
–> 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
Why does physiologic anaemia of infancy occur?
–> 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
Why might premature neonates become anaemic?
–> 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
What is haemolytic disease of the newborn?
cause of haemolysis and jaundice in neonates
What is the cause of haemolytic disease of the newborn?
incompatibility between the rhesus antigens on the surface of red blood cells of the mother and fetus - the most important rhesus D antigen
What is the pathophysiology of haemolytic disease of the newborn?
–> 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
Which test can be done for haemolytic disease of the newborn?
–> Direct coombs test - checks for immune hemolytic anaemia
–> Positive in haemolytic disease of the newborn
What are the causes of anaemia in older children?
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
What are the causes of microcytic anaemia?
T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia
What are the causes of normocytic aneamia?
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
Why does megaloblastic anaemia occur?
Impaired DNA synthesis
prevents the cell from dividing normally
Keeps growing into a large abnormal cell
Caused by vitamin deficiency
What is megaloblastic anaemia caused by?
B12 deficiency
Folate deficiency
What is normoblastic anaemia caused by?
–> Alcohol
–> Reticulocytosis (usually from haemolytic anaemia or blood loss)
–> Hypothyroidism
–> Liver disease
–> Drugs such as azathioprine
What are the symptoms of anaemia?
–>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
What are the signs of anaemia?
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
What are the investigations for anaemia?
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.
What is the management of anemia?
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.
What is the pathophysiology of thalassemia?
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).
What are the potential signs and symptoms of thalassemia?
Microcytic anemia (low mean corpuscular volume)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth and development
Pronounced forehead and malar eminences
What are the investigations for thalassemia?
–> 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
Why can iron overload occur in thalassemia?
–> 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
What are the signs and symptoms of iron overload with thalassemia?
Iron overload in thalassemia causes effects similar to hemochromatosis:
Fatigue
Liver cirrhosis
Infertility
Impotence
Heart failure
Arthritis
Diabetes
Osteoporosis and joint pain
What is the management of iron overload in thalassemia patients?
limiting transfusions and performing iron chelation.
What is alpha thalassemia?
Alpha-thalassaemia is caused by defects in alpha globin chains. The gene coding for this protein is on chromosome 16.
What is the management of alpha thalassemia?
–> Monitoring the full blood count
–> Monitoring for complications
–> Blood transfusions
–> Splenectomy may be performed
–> Bone marrow transplant can be curative
What is beta thalassemia?
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
What is the patho of beta thalassaemia minor
Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.
What does thalassemia minor cause?
mild microcytic anaemia
What is the management of beta-thalassemia minor?
only require monitoring and no active treatment.
What is the patho of beta thalassemia intermedia
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.
What does thalassemia intermedia cause?
more significant microcytic anaemia
What is the management of beta-thalassemia intermedia?
monitoring and occasional blood transfusions. When they require more transfusions, they may require iron chelation to prevent iron overload.
What is the patho of thalassemia major?
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.
What does beta thalassemia major cause?
–> Severe microcytic anaemia
–> Splenomegaly
–> Bone deformities
What is the management of thalassemia major?
Management involves regular transfusions, iron chelation, and splenectomy. Bone marrow transplants can potentially be curative.
What is sickle cell anaemia?
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
What is the pathophysiology of sickle cell anaemia?
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.
Why is sickle cell disease more prevelant in areas traditionally affected by malaria?
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
What screening is available for sickle cell disease?
–> Newborn blood spot at around 5 days of age
–> Pregnant women at high risk of being carriers of sickle cell trait are offered testing
What are the potential complications of sickle cell disease?
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)
What is a sickle cell crisis?
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.
What is the management of sickle cell crisis?
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)
What is vaso-occlusive crisis in sickle cell disease?
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.
What does vaso occlusive crisis cause in sickle cell disease?
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.
What is splenic sequestration crisis in sickle cell disease?
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
What is the management of splenic sequestration? (Sickle cell disease)
–> 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.
What are the complications of splenic sequestration in sickle cell disease?
–> splenic infarction, leading to hyposplenism and susceptibility to infections
What is aplastic crisis that can occur with sickle cell disease?
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.
What is acute chest syndrome that can occur with sickle cell disease?
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.
What does acute chest syndrome present with?
Fever
SOB
chest pain
cough
hypoxia
X-ray shows pulmonary infiltrates
What is the management of acute chest syndrome?
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
What is the general management of sickle cell disease?
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
What is the inheritance pattern for haemophilia?
X-linked recessive
What is Haemophilia?
X-linked recessive disorder of coagulation
What is deficient in Haemophilia A?
Factor 8
What is deficient in Haemophilia B?
Factor 9
What are the features of hemophilia?
–> 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
How is the diagnosis of hemophilia made?
bleeding scores
coagulation factor assays
genetic testing
What is the management of hemophilia?
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.
What is von Willebrand’s disease?
most common inherited cause of abnormal and prolonged bleeding
autosomal dominant, can be acquired, rare such as leukaemia
What is the pathophysiology of von Willebrand disease
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.
What are the three types of von willebrand disease?
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
What is the presentation of Von willebrand disease?
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
How is the diagnosis of Von Willlebrand disease made?
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
What is the management of Von Willebrand disease?
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
What is immune thrombocytopenic purpura and what can it be triggered by?
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
What is the presentation of immune thrombocytopenic purpura?
–> 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
How is the diagnosis of immune thrombocytopenic purpura made?
–> 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
What is the management of immune thrombocytopenic purpura?
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
What are the complications of immune thrombocytopenic purpura?
Chronic ITP
Anaemia
Intracranial and subarachnoid haemorrhage
Gastrointestinal bleeding
Give some reasons why children may become iron deficient.
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
How can PPI’s interfere with iron absorption?
–> 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
What is ferritin and how does it link with iron deficiency anaemia?
–> 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.
Why is serum iron not a good measurement by itself for iron deficiency anaemia?
Serum iron levels in blood vary significantly throughout the day
What is total iron binding capacity?
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.
What is the management of iron deficiency anaemia?
–> 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.
What is Leukaemia?
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).
What are the different types of leukaemia that affect children?
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
At what ages do ALL and AML peak?
ALL peaks aged 2 – 3 years
AML peaks aged under 2 years
What is the pathophysiology of leukaemia?
–> 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)
What are the risk factors for leukaemia?
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
What is the presentation of leukaemia?
–> 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
What are the investigations for suspected leukaemia?
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
What is the management of leukemia?
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
What are the complications of chemotherapy?
Failure to treat the leukaemia
Stunted growth and development
Immunodeficiency and infections
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
What is the prognosis of leukaemia in children?
The overall cure rate for ALL is around 80%, but the prognosis depends on individual factors. The outcomes are less positive for AML
What is a Wilms tumour?
Wilms’ tumour is a specific type of tumour affecting the kidney in children, typically under the age of 5 years.
What is the presentation of Wilms tumour?
–> child under 5 with a mass in the abdomen
–> abdominal pain
–> haematuria
–> lethargy
–> fever
–> hypertension
–> weight loss
How is the diagnosis of a Wilms tumour made?
Ultrasound of the kidneys
–> CT/MRI to stage the tumour
–> Biopsy to identify the histology and make a definitive diagnosis
What is the management of a Wilms tumour?
–> Surgical excision of tumour along with kidney - nephrectomy
–> Adjuvant chemotherapy or radiotherapy
What is the prognosis of Wilms tumours?
Early stage tumours with favourable histology hold a good chance of cure
Metastatic disease has a poorer diagnosis
What are neuroblastomas?
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
What are the features of neuroblastomas?
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
What are the investigations of neuroblastomas?
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
What is a retinoblastoma?
Most common ocular malignancy in children
average age of diagnosis is 18 months
What is the pathophysiology of retinoblastomas in children?
–> 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
What are the possible features of retinoblastomas?
–> Absent red-reflex, replaced by a white pupil (leukocoria) most common presenting symptom
–> strabismus
–> visual problems
What is the management of retinoblastomas?
–> Enucleation is not the only option
–> Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
What is the prognosis of retinoblastomas?
excellent prognosis with >90% surviving into adulthood
What is an osteosarcoma?
–> 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
what is the presentation of osteosarcomas?
–> 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
How is the diagnosis of osteosarcoma made?
–> 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
What is the management of osteosarcomas?
–> 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.
What is Kleinfelter syndrome?
–> when a male has an extra X chromosome - 47 XXY
What are the features of Kleinfelter syndrome?
–> Appear as normal males until puberty
–> taller height
–> wider hips
–> gynaecomastia
–> weaker muscles
–> small testicles
–> reduced libido
–> shyness
–> infertility
–> subtle learning dificulties
What are the management options for Kleinfelter syndrome?
–> 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
What is the prognosis of Kleinfelters syndrome?
There is a slight increased risk of:
Breast cancer compared with other males (but still less than females)
Osteoporosis
Diabetes
Anxiety and depression
What is Turner syndrome?
When a female has a single X chromosome - 45 XO
O refers to an empty space where the other X chromosome should be
What are the features of turners syndrome?
–> 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
What are the associated conditions with Turner syndrome?
Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities
What is the management of turners syndrome?
–> 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
What is Edwards syndrome?
Trisomy 18 - syndrome varies in severity and affects almost all areas of the body resulting in dysmorphic features and learning disability
What are the key features of Edwards syndrome?
–> micrognathia - undersized lower jaw
–> low set ears
–> rocker bottom feet
–> overlapping fingers
What is patau syndrome?
–> trisomy 13 - results in dysmorphic features, structural abnormalities and LD - rocher bottom feet
What are the key features of patau syndrome?
Microcephaly, small eyes
rocker bottom feet
cleft lip/palate
polydactyly
scalp lesions
What is fragile X syndrome?
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
What are the features of fragile X syndrome ?
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
What is Angelman syndrome?
–> 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
What are the novel features of Angelman syndrome?
–> unusual fascination with water
–> happy demeanor
–> widely spaced teeth
–> delayed development/ LD/ severe delay or absence of speech development
–> possibly seizures
–> hand flapping
–> microcephaly
What is Prader-Willi syndrome?
–> genetic condition in which there is a loss of functional genes on the proximal arm of chromosome 15 from the father
What are the key features of Prader-Willi syndrome?
–> Constant insatiable hunger that leads to obesity
–> Poor muscle tone as an infant
–> hypogonadism
What is the management of Prader-Willi syndrome?
–> Dieticians very important role
–> MDT approach
–> NICE encourages growth hormone aimed at improving muscle development and body composition
What is Noonan syndrome?
Genetic condition - number of different genes that cause Noonan syndrome
–> Majority of cases are inherited in an autosomal dominant way
What are the key features of Noonan syndrome?
Hypertelorism (wide space between the eyes)
Webbed neck
Short statire
Pulmonary stenosis
What are the associated conditions of Noonan Syndrome?
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
What is the main complication of Noonan syndrome?
–> Congenital heart disease and often patients require corrective heart surgery
What is William Syndrome?
–> caused by deletion of genetic material on one copy of chromosome 7
What are the key features of William Syndrome?
–> Very sociable personality
–> Starbusrt eyes
–> short stature
–> LD
–> wide mouth with a big smile
–> supravalvular aortic stenosis
–> hypercalcemia
What is the management of William Syndrome?
–> MDT approach
–> Echocardiograms and blood pressure monitoring for aortic stenosis
–> Low calcium diet
What is Down’s syndrome?
Trisomy 21 - gives rise to characteristic dysmorphic features and associated with many conditions
What are the dysmorphic features seen in Down’s syndrome?
–> 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
What are the complications of Downs syndrome?
–> 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
How does antenatal screening work for Downs syndrome
–> 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
When the risk score is greater than 1 in 150 for Downs syndrome antenatal screening what is then offered?
–> 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
What non invasive prenatal testing can be offered for Downs syndrome/
–> blood test from mother
–> contains fragments of DNA where some comes from the placenta
–> can be analysed and detect conditions such as Downs
What is the management of Downs syndrome?
–> 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
What is osteogenesis imperfecta?
genetic condition which causes brittle bones that are prone to fractures
–> caused by a range of genetic mutations that affect the formation of collagen
What is the presentation of osteogenesis imperfecta?
–> 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
What are the investigations for osteogenesis imperfecta?
–> clinical diagnosis
–> X-rays can be helpful for fractures and deformities
–> genetic testing is possible
What is the management of osteogenesis imperfecta?
–> 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
What is rickets?
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
What are the causes of rickets?
–> 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
What is the pathophysiology of rickets?
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.
What is the presentation of Rickets?
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
What are the risk factors for rickets?
–> Darker skin
–> low exposure to sunlight
–> live in colder climates
–> spend majority of time indoors
What are the investigations for rickets?
–> 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
What is the management of rickets?
–> 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
What is transient synovitis?
–> 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
What is the presentation of transient synovitis?
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.
What is the management of transient synovitis?
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
What is the presentation of septic arthritis?
–> 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
What is septic arthritis?
–> 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
Which bacteria normally causes septic arthritis?
–> Staphylococcus aureus - most common
–> Neisseria gonorrhoea - sexually active teenagers
–> Group A streptococcus ( streptococcus pyogenes)
–> Haemophillus influenzae
–> E.Coli
What are the differential diagnosis of septic arthritis?
Transient sinovitis
Perthes disease
Slipped upper femoral epiphysis
Juvenile idiopathic arthritis
What is the management of septic arthritis?
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
What is osteomyelitis?
–> 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
What are the risk factors for osteomyelitis?
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
What is the presentation of osteomyelitis?
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
What are the investigations for osteomyelitis?
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
What is the management of osteomyelitis?
Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.
What is Perthes disease?
–> 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.
What is the presentation of Perthes disease
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
What are the investigations for Perthes disease?
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
What is the management of Perthes disease?
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.
What is slipped upper femoral epiphysis?
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
What is the presentation of slipped upper femoral epiphysis?
–> 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
How is the diagnosis of slipped upper femoral epiphysis made?
–> initial X-ray
–> blood tests - exclude inflammatory markers for joint pain
–> technetium bone scan
–> CT/MRI
What is the management of slipped upper femoral epiphysis?
Surgery required to return the femoral head to the correct position and fix it to prevent further slippage
What is Osgood-shlatters disease
–> 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
What is the pathophysiology of Osgood-Schlatters disease?
–> 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
What is the presentation of Osgood-Schlatters disease?
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
What is the management of Osgood-Schlatters disease?
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.
What is the prognosis of Osgood-Schlatters disease?
–> Patient usually left with a hard boney lump on their knee
–> rare complication is a full avulsion fracture where the tibial tuberosity - requires surgery
What is developmental dysplasia of the hip?
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
What are the risk factors of developmental dysplasia of the hip?
First-degree family history
Breech presentation from 36 weeks onwards
Breech presentation at birth if 28 weeks onwards
Multiple pregnancies
How can developmental dysplasia of the hip be picked up?
during the newborn examinations or later when the child presents with hip asymmetry, reduced range of movement in the hip or a limp
How is developmental dysplasia of the hip screened for?
–> 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.
What are the two special tests to test for developmental dysplasia of the hip?
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.
How is the diagnosis of developmental dysplasia made?
–> when suspected - ultrasound - all children with risk factors or examination findings should have an ultrasound
–> X-rays can be helpful in older children
What is the management of developmental dysplasia of the hip?
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.
What is Juvenile idiopathic arthritis?
–> 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
What are the key features of juvenile idiopathic arthritis?
–> joint pain, swelling and stiffness
What are the 5 subtypes of juvenile idiopathic arthritis?
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis
What are the typical features of systemic JIA (still’s disease)
–> Subtle salmon-pink rash
–> High swinging fevers
Enlarged lymph nodes
Weight loss
–> Joint inflammation and pain
Splenomegaly
Muscle pain
Pleuritis and pericarditis
What serology would be seen in systemic JIA?
Antinuclear antibodies and rheumatoid factors are typically negative. There will be raised inflammatory markers, with raised CRP, ESR, platelets, and serum ferritin.
What is polyarticular JIA?
idiopathic inflammatory arthritis in 5 joins or more
What are the key features of polyarticular JIA?
–> 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
What is the serology of polyarticular JIA?
–> 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
What is oligoarticular JIA?
–> involves 4 joints or less
–> usually single larger joint affected often knee or ankle
–> occurs more in girls under the age of 6
What is a classic associated feature of oligoarticular JIA?
anterior uveitis - referred to opthalmologist and follow up
What is the serology of oligoarticular JIA?
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.
What is enthesitis-related arthritis?
–> 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.
What is the pathophysiology of enthesitis-related arthritis?
–> 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
What are the key features/associations of enthesitis-related arthritis?
–> psoriasis
–> IBD
–> anterior uveitis
–> patients with enthesitis will be tender to localised palpation of the entheses
What is Juvenile psoriatic arthritis?
–> 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.
What are the key features of juvenile psoriatic arthritis?
–> 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
What is the management of juvenile idiopathic arthritis?
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
Why is hypoxia central to neonatal resuscitation?
–> 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
Describe some issues in neonatal resuscitations?
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
What are the principles in neonatal resuscitation?
–> 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
What is the APGAR score?
–> 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
What is respiratory distress syndrome?
–> Affects premature neonates, born before the lungs start producing adequate surfactant
–> Commonly occurs below 32 weeks
–> CXR shows ground glass appearance
What is the pathophysiology of respiratory distress syndrome?
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
What is the management of respiratory distress syndrome?
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.
What are the complications of respiratory distress syndrome?
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
What is bronchopulmonary dysplasia?
–> 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
How is a diagnosis of bronchopulmonary dysplasia made?
Diagnosis is made based on chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.
What are the features of bronchopulmonary dysplasia (CLDP) ?
Low oxygen saturations
Increased work of breathing
Poor feeding and weight gain
Crackles and wheezes on chest auscultation
Increased susceptibility to infection
How can bronchopulmonary dysplasia be prevented?
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
What is the management of bronchopulmonary dysplasia (CLDP)
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.
What is meconium aspiration syndrome?
–> Respiratory distress in the newborn as a result of meconium in the trachea
What are the risk factors for meconium aspiration syndrome?
–> post-term deliveries
–> history of maternal hypertension, pre-eclampsia, chorioamnionitis and smoking or substance abuse
What is necrotising enterocolitis?
–> disorder affecting premature babies - part of the bowel becomes necrotic
–> life-threatening emergency as perforation can occur and can lead to peritonitis and shock
What is the cause of necrotising enterocolitis?
unclear
What are the risk factors for necrotising enterocolitis?
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
What is the presentation of necrotising enterocolitis?
–> 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.
What are the investigations for necrotising enterocolitis?
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
What is the management of necrotising enterocolitis?
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.
What are the complications of necrotising enterocolitis?
Perforation and peritonitis
Sepsis
Death
Strictures
Abscess formation
Recurrence
Long term stoma
Short bowel syndrome after surgery
Why do normal term babies have hypoglycaemia without any consequences in the first 24 hours of life?
–> they can utilise other fuels such as ketones and lactate
–> called transient hypoglycaemia
What can cause severe or persistent hypoglycemia in neonates?
–> pre-term birth
–> maternal DM
–> intrauterine growth restriction
–> hypothermia
–> neonatal sepsis
–> inborn errors of metabolism
What are the features of neonatal hypoglycaemia?
–> 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
What is the management of neonatal hypoglycemia?
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
What is cleft lip?
–> congenital condition where there is a split or open section of the upper lip
What is cleft palate?
–> defect exists in the hard or soft palate at the roof of the mouth
–> leaves an opening between the mouth and the nasal cavity
What are the complications of cleft lip or cleft palate?
–> 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
What is the management of Cleft lip or palate?
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.
What is Squint?
–> Misalignment of eyes - also known as strabismus, patients can experience double vision
How does lazy eye occur with squint?
–> 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
What are concomitant squints and paralytic squints?
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.
What is esotropia (squint)?
inward positioned squint (affected eye towards the nose)
What is exotropia (squint)?
outward positioned squint (affected eye towards the ear)
What is hypertropia (squint)?
upward moving affected eye
What is hyportropia (squint)?
downward moving affected eye
What are the causes of squint?
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
What examinations can be done for squint?
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).
What is the management of squint?
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.
What are the four domains of child development?
–> Gross motor
–> Fine motor and vision
–> speech and hearing
–> social behaviour and play
What gross motor milestone would you expect at 3 months?
–> little or no head lag on being pulled to sit
–> babies head control improves
What gross motor milestone would you expect at 6 months?
–> pulls self to sitting
which gross motor milestone would you expect at 9 months?
–> pulls to standing and crawls
Which gross motor milestone would you expect at 12 months?
–> cruises and walks with one hand held
Which gross motor milestone would you expect at 18 months?
–> squats to pick up toy
Which gross motor milestone would you expect at 3 years?
–> can ride a tricycle using pedals
Which gross motor milestone would you expect at 4 years?
–> hops on one leg
Which gross motor milestone would you expect at 13-15 months?
–> Walks unsupported
Which fine motor and vision milestone would you expect at 3 months?
Reaches for object
Holds rattle briefly if given to hand
Visually alert, particularly human faces
Fixes and follows to 180 degrees
Which fine motor and vision milestone would you expect at 6 months?
Holds in palmar grasp
Pass objects from one hand to another
Visually insatiable, looking around in every direction
Which fine motor and vision milestone would you expect at 9 months?
Points with finger
Early pincer
Which fine motor and vision milestone would you expect at 12 months?
Good pincer grip
Bangs toys together
How many bricks can a 15 month child stack?
2
How many bricks can a 18 month child stack?
3
How many bricks can a 2 year old child stack?
6
How many bricks can a 3 year old child stack?
9
Describe the drawring milestones in fine motor and vision for 18 months
circular scribble
Describe the drawring milestones in fine motor and vision for 2 years?
copies vertical line
Describe the drawing milestones in fine motor and vision for 3 years?
Copies circle
Describe the drawing milestones in fine motor and vision for 4 years?
Copies cross
Describe the drawing milestones in fine motor and vision for 5 years?
Copies square and triangle
Describe what a 15 month old would do to a book - fine motor and vision developmental milestone
–> looks at page and pats book
Describe what a 18 month old would do to a book - fine motor and vision developmental milestone
–> turns pages , several at a time
Describe what a 2 year old would do to a book - fine motor and vision developmental milestone
–> turns pages one at a time
Why is hand preference before 12 months abnormal?
–> cerebral palsy
What speech and hearing milestone would be expected at 3 months?
–> quieten to parents voice
What speech and hearing milestone would be expected at 6 months?
–> Double syllables - adah and erleh
What speech and hearing milestone would be expected at 9 months?
–> says simple words - mama and dada
What speech and hearing milestone would be expected at 12 months?
–> knows and responds to own name
What speech and hearing milestone would be expected at 2 years?
–> combine 2 words
What speech and hearing milestone would be expected at 2.5 years?
–> vocab of 200 words
What speech and hearing milestone would be expected at 3 years?
–> talks in short sentences 3 to 5 words
–> identifies colours
What speech and hearing milestone would be expected at 4 years?
–> asks why, when and how questions
What are the major social behaviour and play milestones at 6 weeks?
smiles
What are the major social behaviour and play milestones at 3 months?
Laughs, enjoys friendly handling
What are the major social behaviour and play milestones at 6 months?
Not shy
What are the major social behaviour and play milestones at 9 months?
Shy
takes everything to mouth
What is global developmental delay?
Refers to a child displaying slow development in all developmental domains - could indicate an underlying diagnosis
What underlying diagnosis could be responsible for global developmental delay?
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders
A delay that is specific to gross motor domain may indicate which pathology?
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
A delay that is specific to fine motor domain may indciate which pathology?
–> dyspraxia
–> cerebral palsy
–> muscular dystrophy
–> visual impairment
A delay that is specific to the speech and language domain may indicate which pathology?
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
A delay that is specific to personal and social domain may indicate which pathology?
Emotional and social neglect
Parenting issues
Autism
What is epilepsy?
Umbrella term for a condition where there is a tendancy to have seizures
What are seizures?
Transient episodes of abnormal electrical activity in the brain
many different types of seizures
What is the aim of treatment for epilepsy?
Seizure free on the minimum anti epileptic medications - ideally monotherapy
what are the features of tonic clonic seizures?
–> 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
What is the management of tonic clonic seizures?
First line –> sodium valporate
Second line –> lamotrigine or carbamazepine
what are the features of focal seizures?
–> start in the temporal lobe
–> affect hearing, speech, memory and emotions
–> hallucinations
–> memory flashbacks
–> Deja vu
–> doing strange things on autopilot
What is the management of focal seizures
–> reverse of tonic clonic
–> first line - lamotrigine or carbamazepine
–> second line - sodium valporate or levetiracetam
What are the features of absence seizures in children?
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.
What is the management of absence seizures in children?
Most patients (more than 90%) stop having absence seizures as they get older.
Management:
First line: sodium valproate or ethosuximide
What are the features of atonic seizures?
–> Drop attacks
–> brief lapse in muscle tone
–> no more than 3 mins
What is the management of atonic seizures?
First line –> sodium valporate
second line –> lamotrigine
What are the features of myoclonic seizures?
–> Sudden brief muscle contractions - like a sudden jump
–> patients usually awake
–> part of juvenile myoclonic epilepsy
What is the management of myoclonic seizures?
first line –> sodium valporate
other options —> lamotrigine, levetiracetam, topiramate
What are febrile convulsions?
seizures that occur in children whilst they have a fever
What are the features of febrile convulsions?
–> 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
What are the investigations for a diagnosis of epilepsy?
–> 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
Which anti-epileptic drug is teratogenic?
sodium valporate
Which anti-epileptic drug can cause Stephen Johnson syndrome
lamotrigine
what is status epilepticus
–> medical emergency
–> seizures lasting more than 5 mins or 2 or more seizures without regaining concioussness
What is the management of status epilepticus in the hosptial?
–> 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.
What are the medical options in the community for status epilepticus?
Buccal midazolam
rectal diazepam
What is the pathophysiology of viral-induced wheeze?
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.
