Peds- GI Biliary Disorders Brandau/Tieman Flashcards
Physiologic jaundice
infant o/w healthy. NOT physiologic if
1) develops before 36hrs
2) persists beyond 10 days, or
3) if direct bilirubin is >20% of total bilirubin
Breast milk jaundice
prolonged unconjugated hyperbilirubinemia (10-15mg/dL) seen in ~2% of breast fed infants
Clinical features of congenital rubella syndrome
microcephaly
heart disease
petechiae and purpura
eye anomalies (cataracts, glaucoma, strabismus…)
Clinical features of congenital syphilis
snuffles (nasal chondritis)
Hutchinson incisors
Clinical features of toxoplasmosis
most common intrauterine infection in developing countries
most common cause of posterior uveitis
damn cats -_____-
Clinical features of galactosemia
brain damage cataracts jaundice hepatomegaly kidney damage
Glycogen Storage Disease Type IV
autosomal recessive glycogen branching enzyme deficiency –> amylopectin-like compact glycogen molecule
primarily presents with liver disease, rarely neuromuscular forms
Clinical features of tyrosinemia 1
Cabbage-smell!!! N/V/D and bloody stools Poor weight gain Hepatomegaly Jaundice Easy bleeding and bruising Swelling of legs and abdomen *tend to be fatal without a liver transplant
Clinical Features of Gaucher Disease
(three subtypes- 1 is most common, only one that has no neurology sx)
severe hepatomegaly and splenomegaly
anemia
thrombocytopenia
Don’t forget about most common trisomies!
Trisomy 21- Down syndrome
Trisomy 18- Edwards syndrome
Trisomy 13- Patau syndrome
Turner Syndrome
XO genotype
Webbed neck and extra skin
Wide-set nipples
10% of all causes of neonatal cholestasis
alpha 1 antitrypsin deficiency
Endocrine causes of neonatal cholestasis
hypothyroidism
hypopituitarism
Diagnostic algorithm of congenital hypothyroidism
Primary CH
- elevated TSH
- Decreased free T4
Secondary (central) CH
- decreased TSH
- decreased free T4
Alagille syndrome
arteriohepatic dysplasia
autosomal dominant
associated findings: cholestatic liver disease pulmonary valvular stenosis or atresia vasculopathy renal disease
Intrahepatic cholestasis
usually a failure of formation of bile at the hepatocyte level (elevated LFT’s and unconjugated bilirubin)
can also be an obstructive process confined to intrahepatic bile ducts
Extrahepatic cholestasis
obstructive process of the extra hepatic bile ducts (elevated AP, GGTP, and conjugated bilirubin)
neonatal obstructive jaundice
consider in any newborn jaundice presenting or persisting after 14d/o
elevated conjugated bilirubin, AP, GGTP
often, but not always with acholic stools
Most common causes of neonatal obstructive jaundice
- biliary atresia
- congenital biliary tract anomalies
- choledochal cysts
- infection
biliary atresia
post-natal destruction of extra hepatic bile ducts with resultant injury and fibrosis of intrahepatic bile ducts
epidemiology of biliary atresia
F > M
MCC of liver failure and reason for liver transplant in peds
treatment of biliary atresia
Kasai procedure if done at <60d/o
Liver transplant if not
clinical features of choledochal cyst
majority found <10y/o
jaundice, acholic stools, pruritis, abdominal pain, fever
risk of malignancy and cholangitis
Caroli’s disease
Type V (intrahepatic) choledochal cyst
