passmed 22/01/24 Flashcards
heel prick tests for what?
when is it done?
5
sickle cell disease
cystic fibrosis
congenital hypothyroidism
PKU
medium chain acyl coA dehydrogenase deficiency
MCADD
5th-9th days
infantile colic
excessive crying
worse in evenings
resolves around 6 month
whooping cough mx
presents?
macrolide
azithryomycin
risk factors for febrile convulsions?
age of onset <18 months
fever <39
family hx
2.5% risk of epilepsy developing
epilepsy link w febrile convulsions?
fhx
complex febrile seizures
background of neurodevelopmental disorder
paedriatric GI disorders
appendicitis
leucocytes in urine
inflamed appendix can cause ureteral inflammation > leukocyte release
protein
abdo distension prem baby
USS free fluid and small bowel dilatation
ddx?
mx?
necrotising enterocolitis
laparotomy
sore throat and fever
periumbilical pain
diarrhoea > blood stained
target sign
dx?
mx?
intussusception caused by lymphadenopathy
reduction using air fluroscopic guidance
pyloric stenosis mx?
ramstedt pyloromyotomy
mesenteric adenitis
central abdo pain and URTI
conservative mx
hirschsprung’s disease
how to diagnose?
mx?
absence of ganglion cells from myenteric and submucosal plexuses
full-thickness rectal biopsy
rectal washout > anorectal pull through
meconium ileus mx
PR contrast
NG n-acetyl cysteine
wilms’ tumour
most common childhood malignancy
<5
associated w beckwidth widemann
wilms tumour features
abdo mass
painless haematuria
flank pain
unilateral
anorexia
mets > lungs
autosomal recessive conditions tend to be
metabolic
except for ataxias
autosomal dominant conditions are structural except for
except for hunters and G6pd - x linked recessive