Peds- GI Biliary Disorders Brandau/Tieman

Question 1

Physiologic jaundice

Answer 1

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

Question 2

Breast milk jaundice

Answer 2

prolonged unconjugated hyperbilirubinemia (10-15mg/dL) seen in ~2% of breast fed infants

Question 3

Clinical features of congenital rubella syndrome

Answer 3

microcephaly
heart disease
petechiae and purpura
eye anomalies (cataracts, glaucoma, strabismus…)

Question 4

Clinical features of congenital syphilis

Answer 4

snuffles (nasal chondritis)

Hutchinson incisors

Question 5

Clinical features of toxoplasmosis

Answer 5

most common intrauterine infection in developing countries
most common cause of posterior uveitis
damn cats -_____-

Question 6

Clinical features of galactosemia

Answer 6

brain damage 
cataracts
jaundice 
hepatomegaly 
kidney damage

Question 7

Glycogen Storage Disease Type IV

Answer 7

autosomal recessive glycogen branching enzyme deficiency –> amylopectin-like compact glycogen molecule

primarily presents with liver disease, rarely neuromuscular forms

Question 8

Clinical features of tyrosinemia 1

Answer 8

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

Question 9

Clinical Features of Gaucher Disease

Answer 9

(three subtypes- 1 is most common, only one that has no neurology sx)
severe hepatomegaly and splenomegaly
anemia
thrombocytopenia

Question 10

Don’t forget about most common trisomies!

Answer 10

Trisomy 21- Down syndrome
Trisomy 18- Edwards syndrome
Trisomy 13- Patau syndrome

Question 11

Turner Syndrome

Answer 11

XO genotype
Webbed neck and extra skin
Wide-set nipples

Question 12

10% of all causes of neonatal cholestasis

Answer 12

alpha 1 antitrypsin deficiency

Question 13

Endocrine causes of neonatal cholestasis

Answer 13

hypothyroidism

hypopituitarism

Question 14

Diagnostic algorithm of congenital hypothyroidism

Answer 14

Primary CH

• elevated TSH
• Decreased free T4

Secondary (central) CH

• decreased TSH
• decreased free T4

Question 15

Alagille syndrome

Answer 15

arteriohepatic dysplasia
autosomal dominant

associated findings: 
cholestatic liver disease 
pulmonary valvular stenosis or atresia 
vasculopathy 
renal disease

Question 16

Intrahepatic cholestasis

Answer 16

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

Question 17

Extrahepatic cholestasis

Answer 17

obstructive process of the extra hepatic bile ducts (elevated AP, GGTP, and conjugated bilirubin)

Question 18

neonatal obstructive jaundice

Answer 18

consider in any newborn jaundice presenting or persisting after 14d/o

elevated conjugated bilirubin, AP, GGTP
often, but not always with acholic stools

Question 19

Most common causes of neonatal obstructive jaundice

Answer 19

1. biliary atresia
2. congenital biliary tract anomalies
3. choledochal cysts
4. infection

Question 20

biliary atresia

Answer 20

post-natal destruction of extra hepatic bile ducts with resultant injury and fibrosis of intrahepatic bile ducts

Question 21

epidemiology of biliary atresia

Answer 21

F > M

MCC of liver failure and reason for liver transplant in peds

Question 22

treatment of biliary atresia

Answer 22

Kasai procedure if done at <60d/o

Liver transplant if not

Question 23

clinical features of choledochal cyst

Answer 23

majority found <10y/o
jaundice, acholic stools, pruritis, abdominal pain, fever
risk of malignancy and cholangitis

Question 24

Caroli’s disease

Answer 24

Type V (intrahepatic) choledochal cyst