Neonatal Cholestasis CIS - Brandau/Tieman Flashcards by Amanda Beach

Case 10 week old F, jaundice, C section, breast fed and yellow from birth, 2 weeks ago switched to formula feeding

colicky and fussy, no fever
no vomiting/diarrhea
stools - light yellow
distended abdomen, increased veins on abdomen, yellow sclera, systolic murmur sternal border
hepatomegaly
total bilirubin 10.1 and direct 6.3
elevated ALT/AST

neonatal cholestasis - elevation in direct bilirubin

DDx - infection, hepatitis, metabolic, endocrine, genetic, obstructive

NOT physiologic jaundice - not before 36 hours - gone by 10 days of life - and is indirect bilirubin**

NOT breast milk jaundice - prolonged indirect bilirubin**

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jaundice at birth

needs to be worked up

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left sternal border murmur

pulmonary valve

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unconjugated bilirubin

indirect

cross BBB
carried by albumin
kernicterus
destruction of heme

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jaundice in an otherwise health infant

physiologic jaundice

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physiologic jaundice

gone by 10 days

-indirect jaundice high

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breast milk jaundic

prolonged indirect bilirubin

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clue for toxo infection

pet cat

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endocrine before 2 months old

hypothyroidism - very common picked up on screening

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viral neonatal cholestasis

adenovirus
CMV - 2 months sensorineural hearing loss
coxsackie - myocarditis
EBV
enterovirus
hep A, B, C
herpes
HIV
parvo
reovirus
rubella

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bacterial neonatal cholestasis

UTI
sepsis
listerosis
TB

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spirochete neonatal cholestasis

syphilis

leptospirosis

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parasite neonatal cholestasis

toxoplasmosis
malaria
toxocariasis
histoplasmosis

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congenital rubella syndrome

heart disease
petechiae/purpura rash
microcephaly
eye - cataracta, nystagmus, glaucoma

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congenital syphilis

dracula teeth
nasal chondritis - snuffles

early congenital - before 2yo - hepatosplenomegaly
-nasal chondritis - snuffles

late congenital - after 2yo - craniofacial malformation, dental changes, deafnes

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toxoplasmosis

most common intrauterine infection - developing countries

posterior uveitis

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posterior uveitis

toxoplasmosis

destruction of retina

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metabolic neonatal stasis

galactosemia
glycogen storage disease
FA oxidation - SCAD
urea cycle defects
tyrosinemia
lysosomal storage diseases

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ammonia levels

urea cycle defects

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galactosemia

brain damage, cataracts, jaundice, enlarged liver, kidney damage

unmetabolized milk sugars build up and damage liver, eyes, kidneys, and brain

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glycogen storage type IV

branching enzyme deficiency
-auto recessive

glycogen with fewer branching points

progressive liver failure early in life

tyrosinemia

cabbage like odor to skin

liver problems - enlarged, jaundice, bleed and bruise easily, swelling of legs and abdomen

can lead to necessary liver transplant

gaucher disease type 2

acute and infantile

hepatomegaly and splenomegaly

hydrops fetalis

anemia thrombocytopenia

bulbar palsies, hypertonic

arthrogyrposis - joint contractures

genetic neonatal cholestasis

CF
trisomy 13, 18, 21
turner
alpha1 antitrypsin

edwards syndrome

trisomy 18

patau syndrome

trisomy 13

turner syndrome

web neck in newborn wide nipples spots on skin

alpha1 antitrypsin deficieny

damage lung and liver neutrophil elastase problems

congenital hypothyroidism

jaundice hypotonic large tongue delayed closure fontanelles** coarse facial features mental retardation problems if don't pick up

diagnosis congeintal hypothyroid

screen - T< 10%, TSH elevation measure TSH and free T4 - high TSH and low T4 - primary** - low TSH and low T4 - secondary**(central)

arteriohepatic dysplasia

aliagille syndrome cholestatic liver disease - pulmonary valvular stenosis - vasculopathy - renal disease

most common cause of neonatal cholestasis

idiopathic neonatal hepatitis 35% extrahepatic biliary atresia 30% alpha 1 antitrypsin 10%

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

cholestasis

intrahepatic

failure of formation of bile at hepatocyte level - elevated transaminases and indirect bilirubin

extrahepatic

obstructive of bile ducts - elevated alk phos, GGTP, and direct bilirubin

neonatal obstructive jaundice

must be considered jaundice after 14 days old**

physiologic jaundice

does not extend beyond 2 weeks

acholic stool

yellow - because no bilirubin - neonatal obstructive jaundice

most common cause neonatal obstructive jaundice

biliary atresia** also choledochal cyst and infections

biliary atresia

post-natal destruction of extrahepatic bile ducts with resultant injury and fibrosis of intrahepatic bile ducts more in females unknown etiology**

most common cause of hepatic death and need for liver transplant

biliary atresia

first in work up for biliary atresia

ultrasound** diagnosis - lab, US, MRC, liver biopsy liver biopsy - cholestasis in canaliculi and some fibrosis MRC - magnetic resonance cholangiography

Tx for biliary atresia

porto-enterostomy - kasal procedure if done less than 60 days of age

intraoperative cholangiogram

looking for ductal system

kasai procedure

porto-enterostomy -for biliary atresia needs to be done first 30-45 days (80% success) - beyond only 20%** if fails - to liver transplant**

choledochal cyst

can cause obstructive jaundice 5 types - type 5 is carolis disease majority found <10yo obstructive jaundice, acholic stools, pruritis, abdomen pain, and or fever

tx of choledocal cyst

should be resected - risk of malignancy and cholangitis

diagnosis of choledochal cyst

typical lab pattern of obstructive jaundice, US, MRCP, and ERCP

type II choledochal cyst

easiest to resect

carolis disease

type V choledochal cysts intrahepatic cysts - hard to resect need liver transplant