Paediatrics Flashcards
What mutation is associated with Achondroplasia?
How is it inherited?
FGFR-2 gene mutation
AD
What is the main RF for developing Achondroplasia?
Advancing parental age
How might you manage stature in achondroplasia?
Limb lengthening with Illizarov frames
What is the most common cause of bronchiolitis?
RSV - respiratory syncytial virus
Which children tend to be affected by bronchiolitis?
<6 months
Ex-premature babies with chronic lung disease
What is wheezing?
Whistling sound caused by narrowed airways, typically heard during expiration
What is grunting?
Caused by exhaling with the glottis partially closed to increase positive end-expiratory pressure
What is stridor?
High pitched inspiratory noise caused by obstruction of the upper airway, for example in croup
What is the typical course of an RSV infection
URTI, 50% get better
50% get chest symptoms in 1-2 days, worst day 3-4
Recover in 2-3 weeks
Which patients with bronchiolitis should be admitted?
<3 months
prematurity
T21
CF
How is ventilatory support stepped up in children with bronchiolitis?
1) High-flow humidified O2 (PEEP)
2) CPAP
3) Intubation + ventilation
What is Palivizumab?
Who gets it?
mAb targeting RSV
Monthly injection as prevention against bronchiolitis
Given to high risk babies (e.g. ex-premature, congenital heart disease…)
How might you manage the following in cerebral palsy?
Drooling
Constipation
Nutrition
Drooling - anti-cholinergic agents (e.g. hyoscine hydrobromide)
Constipation - laxatives
Nutrition - PEG
How is cerebral palsy classified?
Spastic (70%) - ^tone from damaged UMN
Dyskinetic - damaged basal ganglia + substantia nigra
Ataxic - damaged cerebellum
Mixed
What is the most common variant of cleft lip and palate?
Combined cleft lip and palate
Name 1 key RF for cleft lip and palate
Maternal antiepileptic use
What ENT pathology are those with cleft palate at risk of?
Otitis media
When is cleft lip repaired?
1 week - 3 months
When is cleft palate repaired?
6-12 months
What aged children are affected by croup normally?
6 months - 2 years
What is the most common cause of Croup?
Parainfluenza
What used to be the most common cause of Croup?
Diphtheria
What is the most effective treatment for Croup?
Dexamethasone single dose 150 mcg/kg
Repeat if required after 12 hours
2nd line Prednisolone
What are some other options for severe croup?
Oral Dexamethasone
O2
Budesonide nebs
Adrenaline nebs
What causes Hirschprung’s disease?
Hirschprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses
Who is at a higher risk of developing Hirschprung’s diease?
Men
T21
What is the gold standard diagnostic test for Hirschprung’s disease?
rectal biopsy
At what age is it more common to develop intussusception?
6 months to 2 years
Which sex is more likely to develop intussusception?
Males
What is the typical stool finding in intussusception?
Redcurrant jelly stool
What sign on abdominal USS is indicative of Intussusception?
Target sign
What conservative management may be attempted in Intussusception?
Therapeutic enemas
What sized vessels are affected by Kawasaki disease?
Medium sized vessels
What aged children are typically affected by Kawasaki disease?
<5 years
Name 1 common key complication associated with Kawasaki disease
Coronary artery aneurysm
What are the 2 main features of Kawasaki disease?
Persistent high fever >5 days
Widespread erythematous maculopapular rash and desquamatisation
What oral sign is indicative of Kawasaki disease?
Strawberry tongue
Where might you observe lymphadenopathy in Kawasaki disease?
cervical area
What are the 3 phases of Kawasaki disease?
Acute phase (1-2 weeks)
Subacute phase (2-4 weeks)
Convalescent phase (2-4 weeks)
How is Kawasaki disease managed?
High dose aspirin
IV Ig (reduce risk of coronary artery aneurysms)
Follow up echocardiograms for aneurysms
What genetic abnormality is associated with Noonan syndrome?
Mutation on chromosome 12
What cardiac anomaly is associated with Noonan syndrome?
Pulmonary stenosis
What coagulopathy is associated with Noonan syndrome?
Factor XI deficiency
At what age would you expect pes planus to resolve?
4-8 years
At what age would you expect in toeing to present?
1 year
At what age would you expect out toeing to resolve?
2 years
At what age would you expect genu varum to present and resolve?
Present - 1-2 years
Resolve - 4-5 years
At what age would you expect genu valgum to present?
years 2-4
What is the way to diagnose VUR?
micturating cystourethrogram
What scan may reveal renal scarring in VUR?
DMSA
What genetic abnormality causes Turner syndrome?
45 XO
What elbow anomaly is seen in Turner syndrome?
Cubitus valgus
How might you manage the following in Turner syndrome?
Short stature
Establishing female sex characteristics
Infertility
Short - GH therapy
Sex characteristics - Oestrogen and progesterone
Fertility treatment
What pathogen causes Whooping cough?
What is its’ gram stain?
Bordetella pertussis
Gram -
How is Whooping cough diagnosed?
2-3 weeks onset: swab then PCR or culture
> 2 weeks - Anti-pertussis toxin IgG (oral fluid)
How would you manage Whooping cough?
Notifiable disease
Supportive care
Macrolides (erythromycin…, within 21 days)
What is a key complication of Whooping cough?
Bronchiectasis
What is caput succedaneum?
Oedema of the scalp at the presenting part of the head (usually vertex)
Caused by prolonged delivery or ventouse
What is cephalohaematoma?
Swelling on the newborn’s head, several house after delivery between the periosteum and the skull
What complication may be observed in cephalohaematoma?
Jaundice
How might you differentiate caput succedaneum and cephalohaematoma?
Caput succedaneum - crosses suture lines
Cephalohematoma - doesn’t
When should you assess APGAR scores?
1 and 5 minutes of age
Name the 4 main causes of stridor in paediatrics
Croup
Acute epiglottitis
Inhaled foreign body
Laryngomalacia
What pathogen causes acute epiglottitis?
Haemophilus influenza type B
What is laryngomalacia?
When does it present?
Congenital abnormality of the larynx
Typically presents at 4 weeks of age
How is CMPA / CMPI diagnosed?
Often clinically
Could do the following tests
- skin prick / patch testing
- Total IgE and specific IgE (RAST) for cow’s milk protein
How might you manage CMPA / CMPI?
Severe - refer
Formula
1 - eHF milk
2 - AAF
Breastfed
- no cow’s milk for mum, offer calcium supplements
- Use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
What is eHF milk?
Extensive hydrolysed formula milk
What is AAF?
amino acid-based formula
From what age does Duchenne MD present?
5+
From what age does Becker MD present?
10+
Name 3 MSK signs observed in DMD
Progressive proximal muscle weakness
Calf pseudohypertrophy
Gower’s sign
What percentage of patients with DMD also have intellectual impairment?
30%
What is the gold standard diagnosis for DMD?
Genetic testing
What is the inheritance pattern of DMD?
XLR
What cardiac anomaly is associated with DMD?
Dilated cardiomyopathy
What is the prognosis of DMD?
No walking by 12 years
Life expectancy 25-30 years
Which 3 congenital heart defects tend to present in adulthood?
ASD
VSD
CoA
Name 6 acyanotic congenital heart defects
ASD
VSD
AVSD
CoA
PDA
PS
Name 6 cyanotic congenital heart defects
ToF
TGA
Truncus arteriosus
TAPVD
IAA
Univentricular heart
A shunt in which direction is associated with cyanotic congenital heart disease?
R -> L
What are the 3 types of ASD from most to least common?
PFO
Ostium secundum
Ostium primium
How might an ASD become cyanotic?
RH strain -> pulmonary HTN -> Eisenmenger syndrome -> shunt reverses to R-L -> cyanosis
Which patients may develop a stroke with ASD?
DVT
What murmur is associated with ASD?
Mid-systolic, crescendo-descrendo murmur loudest at the upper L sternal border, with a fixed split second heart sound
Name 2 genetic conditions associated with VSD
T21
Turner’s syndrome
Name 3 causes of a pan-systolic murmur
VSD
MR
TR
If uncorrected, how might physiology in PDA change?
acyanotic -> differential cyanosis
This causes a late cyanosis in the lower extremities
How might you manage an isolated PDA?
Indomethacin
or
Ibuprofen
How might you manage a PDA associated with other defects
Surgery
then
Prostaglandin E1
What is immediate survival of a baby with TGA dependent on?
Shunting across a PDA, ASD, or VSD
Which 4 anomalies are observed in ToF?
PS
RV hypertrophy
Overriding aorta
VSD
What is the disease severity in ToF dependent on?
How does this manifest?
Degree of PS
mild - more pulmonary flow -> ^sats
sats may be used as a surrogate for pulmonary flow
Name 4 RF associated with ToF
Rubella infection
Increased maternal age (particularly >40)
Alcohol consumption
Diabetic mother
How may ToF present on CXR?
Why?
Boot shaped heart
RV thickening
What might the nature of the PS indicate about the severity of ToF?
Shorter the murmur, the worse the outflow obstruction
What is the emergency management of a Hypercyanotic spell?
O2
Knee to chest position
BBs (propranolol)
Morphine