Paeds Flashcards
Fibromas in the brain + Bilateral acoustic neuromas
Neurofibromatosis type 2
Cafe au last spots, neurofibromas, optic gliomas, litchi nodules
neurofibromatosis Type 1
Hx of trauma/abuse, shaken baby
subdural haemorrhage
Explosive flatus on PR
Hirschsprung disease
painless, bright red, rectal bleeding
juvenile polyps
Infant drawing up legs, flinging out arms
West syndrome
Hemifacial contorsions, inability to speak, abnormal feelings in tongue
benign rolandic epilepsy
URTI followed by stridor, response distress, vaccinated against HIB
Bacterial trachietis
Inconsolable crying, abdominal distension, green vomit, cool peripheries
Malrotation with volvulus
generalised seizure
valproate or lamotrigine
sodium valproate
increased weight, alopecia, teratogenic
One month old, jaundice day 3 then resolved, now jaundice again, pale stools
biliary atresia
double bubble on XR
duodenal atresia
Tinnitus, bilateral frontal headache, visual blurring
idiopathic intracranial HTN
unstable walking, multiple ear infections
ataxia telangiectasia
overweight teenager, painful hip, external rotation of leg
SUFE
Short stature, diarrhoea, neutropenia, low faecal elastase AR
scwachman-diamond syndrome
fell from monkey bars, bruises on back, spiral fracture
NAI
hypotonia, fasciculation of tongue muscles, absent tendon reflexes
spinal muscular atrophy type 1
Ground glass appearance of CXR
RDS
Absence seizures
Ethosuximide
delayed puberty, anomia, AD/AR
Kallman’s syndrome
short stature, webbed neck, wide spaced nipples
Turner syndrome
abdo mass crossing midline
neuroblastoma
Premature baby, formulae fed, abdo distension, bilious vomiting, bloody bowel movements
NEC
vomits after feeds, good growth
GOR
Puffy eyes, swollen feet, abdo pain
nephrotic syndrome
Headache worse in the morning, ataxic gait, nystagmus
medulloblastoma
Testicular swelling larger when standing, transilluminates
hydrocele
Rash after fever on trunk
roseola infantum
Flattened femoral head, <12 years, limping
perthes disease
Progressive distal muscle wasting, high arched feet, motor sensory neuropathy
Charcot-marie toothq
laughing paroxysms, uplifted arms on walking
angle man syndrome
long face, big ear, macro-orchidism
fragile X
Headache at the end of the day-band like
tensions headaches
tongue fascinations, absent deep tendon reflexes, severe hypotonia
SMA type 1
Indigenous child, knee pain, swelling, febrile murmur at apex
rheumatic fever
Bright red cheeks, lace like rash, red cell aplasia
Parovirus B19
Perineal prutitis
pin work
White spots on palate (kopeck spots), conjunctivitis cough, cephalocaudal spread of rash
measles
Mono phasic expiratory wheeze, noisy breathing, worse when crying
layngomalacia
worsening ataxia, distal leg wasting
freidrich ataxia
megaloblastic anaemia, pancytopaenia, cafe au last spots, malformed thumbs
fanconi anaemia
port wine stain
Sturge weber syndrome
Fever >5 days, conjunctivitis, rash, erythema (peripheral), lymph(A)denopathy, mouth (red tongue)
Kawasaki disease
Early puberty, bone dysphasia, hyperpituitarism, hyperthyroid, cafe au last spots
McCune-Albright
epicanthic fold, brush field spots, wide space between 1st and 2nd toe
Down syndrome
Hip and knee pain, URTI last week afebrile
Transient synovitis