Pediatric obstructive biliary disorders (Brandau and Tiemen)

Question 1

what are the criteria that make something non-physiologic neonatal jaundice

Answer 1

if it develops before 36 hours of age

persists beyond 10 days

or if direct bili is >20% of total bili

Question 2

what is breast milk jaundice

Answer 2

approximately 2% of breast fed infants will have prolonged unconjugated hyperbilirubinemia with levels ranging from 10-15 mg/dL

Question 3

how does a kid with congenital rubella syndrome present

Answer 3

heart disease

microcephaly

petechiae and purpura

eye anomalies including cataracts, glaucoma, strabismus, nystagmus, microphthalmia, iris dysplasia

Question 4

what is the presentation of early congenital syphilis

before 2 years of age

Answer 4

Prematurity and intrauterine growth retardation

hepatosplenomegaly

nasal chondritis (snuffles)

skin rash

osteochondritis

neuro symptoms and signs including hydrocephalus, cranial nerve palsies

Question 5

what is the presentation of late congenital syphilis

presentation after 2 years of age

Answer 5

craniofacial malformation

dental abnormalities

interstitial keratitis

deafness

neurosyphilis

paroxysmal cold haemoglobinuria

Question 6

most common cause of posterior uveitis

Answer 6

toxoplasmosis

Cats!!

causes intrauterine infection

Question 7

brain damage
cataracts
jaundice
enlarged liver
kidney damage

if the child is given milk, unmetabolized milk sugars build up and damage the liver, eyes, kidneys and brain

Answer 7

Galactosemia

metabolic cause of neonatal cholestasis

Question 8

Diarrhea and bloody stools
vomiting
poor weight gain
extreme sleepiness
irritability
"cabbage" like odor to skin or urine

enlarged liver
jaundice
bleed or bruise easily
swelling of legs and abdomen

Answer 8

metabolic cause of neonatal cholestasis

Tyrosinemia 1

Question 9

what are genetic causes of neonatal cholestasis

Answer 9

CF

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

Turner syndrome

Alpha 1 antitrypsin deficiency

Question 10

low posterior hairline

webbed neck and extra skin

swollen hands

swollen feet

discolored spots on skin

wide set nipples

Answer 10

Turner syndrome

Question 11

what are endocrine causes of neonatal cholestasis

Answer 11

hypothryoidism

hypopituitarism

Question 12

jaundice
poor feeding

hypotonia

large tongue (macroglossia)

large fontanelles delayed closure (large and soft)***

course facial features

mental retardation

short stature

Answer 12

congenital hypothyroidism

Question 13

how is the diagnosis of congenital hypothyroidism made?

Answer 13

newborn screen for hypothyroidism:
T49 mU/L and free T4 is <0.6 ng/dL the diagnosis of primary CH is confirmed

you can also do

• radionuclide uptake and scan
• ultrasonography
• serum thyroglobulin
• maternal antithyroid antibodies
• urinary iodine

treat with starting on thyroid meds!

Question 14

autosomal dominant

chlestatic liver disease
pulmonary valvar stenosis or atresia
vasuclopathy
renal disease

Answer 14

alagille syndrome

Question 15

what is the definition of colestasis

Answer 15

the systemic retention of biliary constituents as a result of failure of formation and or the flow of bile

Question 16

what is elevated in intrahepatic cholestasis

Answer 16

failure of formation of bile at the hepatocyte level

elevated transaminases and unconjugated bili

can also be obstructive process confined to intrahepatic bile ducts

Question 17

what is elevated in extrahepatic cholestasis

Answer 17

obstructive process of the extrahepatic bile ducts

elevated AP, GGTP, conjugated bili

Question 18

when must neonatal obstructive jaundice be considered ? and what is the most common cause

Answer 18

must be considered in any newborn jaundice presenting or persisting after 14 days!

elevated conjugated bilirubin, AP, GGTP

yellow stool = bili is not getting into the stool

MC cause is biliary atresia

Question 19

what is biliary atresia

more common in males or females?

Answer 19

post-natal destruction of EH bile ducts with resultant injury and fibrosis of IH bile ducts

unknown etiology

30% of neo-natal cholestatic jaundice

F>M

at birth they are normal, but then a few weeks after they have injury to their EH bile ducts

MC cause of hepatic death and need for transplant of liver in children

Question 20

how do you diagnose biliary atresia

Answer 20

labs

US- looking for choledocal cysts as well, but you won’t see anything on US for biliary atresia

MRC

liver biopsy- cholestasis in middle of canalliculi

Question 21

how do you treat biliary atresia

Answer 21

treated with porto-enterostomy (Kasai procedure- attaching portion of small intestine to the liver)

best results if done at <60 days of age

if this fails then you must get a liver transplant

Question 22

these are a less common cause of pediatric obstructive jaundice (2-4%)

5 types

60-70% are found at age

Answer 22

Choledochal cysts

Type 1 –> fill up most of common bile duct

Type II- diverticulum off common bile duct- easiest to treat

Type III- dilatation of gallbladder

Type IV- extrahepatic duct and isolated ones in the intrahepatic system

Type V- Caroli’s disease - can’t be treated except with liver transplant