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
abdominal wall defect no peritoneum
Gastrochisis
Neck webbing, low set ears, affect both sexes
Noonan syndrome
morning headache, vomiting, papilloedmea
cerebral astrocytoma
Rash over hands and feet and mouth ulcers
hand, foot mouth diease
itchy rash appearing in crops
chicken pox
abdominal wall defect peritoneum
Exomphalos
Unable to swallow, toxic child with stridor, HIB
epiglottitis
Shagreen patches, ash leaf spots, peri-fungal fibroma, adenoma sebaceous
tuberous sclerosis
Barking cough, parainfluenza virus
croup
difficulty chewing and swallowing food, bilateral ptosis
myasthenia gravis
testicular swelling, larger when standing, bag of worms appearance
varicocele
Agranulocytosis, hepatotoxicity
carbamazepine
Down syndrome, recurrent croup infections
subglottic stenosis
6 month old, vomiting, eczema
cow’s milk protein intolerance
Anterior hydronephrosis in a male, oligohydraminos
posterior urethral valves
Focal seizure
carbamazepine or lamotrigene
young teenage girl, knee pain, painful lump on shin
osgood Schalter
Rocker bottom feet
Edward syndrome
baby with diffuse wheeze and crackers, sibling had recent URTI
Bronchiolitis
6 week old infant, jaundice no dilated ducts
Biliary atresia
X-linked recessive eczema, thrombocytopenia, immunodeficiency
wiskott-aldrich syndrome
trident shaped hands
achondroplasia
hip pain, fever, irritable, miserable pain on movement
septic arthritis
Throbbing headache, teenage girl, worse when looking at lights
migraine
strawberry tongue, sandpaper like rash
Scarlett fever
Barking cough, pseudomembranous pharyngitis, bull neck, lymphadenopathy, fever
diphtheria
Target sign on U/S, red stools, midline mass
intussusception
abdominal distension and buttock wasting
coeliac
well circumscribed, erythematous, painful leisons in child with constipation likely due to a scratch
perinatal strep (cellulitis) - penicillin
MEMBRANOUS tonsils exudate, generalised lymphadenopathy, hepatosplenomegaly and faint macular rash
EBV
running outside barefoot, groin lump, tender and red
inguinal lyphadenopathy
meconium ileus, recurrent chest infections
CF
bow legs, bead like costoschondral junction, craniotabes
rickets
multiple different seizures, neurodevelopment delay
lennox-gastraut
6 week old infant, jaundice, dilated ducts on US
choledochal cyst
blue dot sign
torsion of appendix of testes
bilateral painful ankle swelling, buttock rash
HSP
drop attacks
atonic attacks
GOR and back arching
sandifer syndrome
Projectile vomiting
pyloric stenosis
Gower’s sign, dilated cardiomyopathy, enlarged calves
Duchenne’s muscular dystrophy
Cessation of activity, lip smacking, 3 second spike and wave discharge
absence seizure
GI symptoms and red lumps on shins
Crohn’s disease
bilateral jerking of limbs, clumsy, consciousness maintained, usually while sleeping
myoclonic seizure
large intestines, macroglossia, exomphalos, neonatal hypoglycaemia, wills tumor
beckwith Wiedemann
Pulmonary stenosis, butterfly vertebrae, biliary atresia, TOF
alagille syndrome
Hypogonadism, microphonic, gynaecostastia, tall
klienfelter syndrome
10 year old, recurrent abdo pain, better on weekend
abdominal pain of childhood
Vomits after feeding, poor growth, irritable
GORD
elfin facies, transient neonatal hypercalcaemia, supravalvular aortic stenosis
William syndrome
Proctitis, child abuse, constipation with straining, CF
rectal prolapse
high riding testes absent cremasteric reflex
testicular torsion
Maculopapular rash, not coryza symptoms, foscheimmer’s spots
rubella
C-section, tachypnoea, increased marking and fluid in fissure on CXR
TTN
jaundice hepatospelnomegaly, multiple spider nave, teenager
Wilsons disease
seizure after a fright
breath holding
episodic visual distortions or hallucinations and migraine like headache
benign occipital epilepsy
Micrognathia, cleft palate
Pierre robin syndrome
post gastro, diarrhoea for 2 weeks
lactose intolerance
Pregabalin
weight gain
Red eyes in an infant, staccato cough
chlamydia
Septic baby massive splenomegaly, no jaundice
glycogen storage disease
Phenytoin
sedation in children, hirsutism, gingival hypoplasia, skin reactions in Asia
Carbamazepine
can make absence seizures worse
corkscrew sign
malrotation with volvulus
fever, tonic clonic seizure lasting 5 minutes <6 years
febrile convulsions
Young teenage female, knee pain esp when standing from sitting or walking up stairs
chondromalacia patallae
child wakes from sleep with no cause, pain in shins or feet age 3-12
growing pains
malformed thumbs, microcephaly, anaemia, facial malformation
diamond-blackfan anaemia
burrows in weber spaces
scabies
Painless bright red blood with bowel movements
Meckels diverticulum
abdo mass not crossing midline
wilms tumor
Post URTI, central abdo pain, low fever
mesenteric adenines
almond shaped palpebral fissures, hyperphagia
prader willi