Neonatal Cholestasis CIS - Brandau/Tieman Flashcards
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**
jaundice at birth
needs to be worked up
left sternal border murmur
pulmonary valve
unconjugated bilirubin
indirect
- cross BBB
- carried by albumin
- kernicterus
- destruction of heme
jaundice in an otherwise health infant
physiologic jaundice
physiologic jaundice
gone by 10 days
-indirect jaundice high
breast milk jaundic
prolonged indirect bilirubin
clue for toxo infection
pet cat
endocrine before 2 months old
hypothyroidism - very common picked up on screening
viral neonatal cholestasis
adenovirus CMV - 2 months sensorineural hearing loss coxsackie - myocarditis EBV enterovirus hep A, B, C herpes HIV parvo reovirus rubella
bacterial neonatal cholestasis
UTI
sepsis
listerosis
TB
spirochete neonatal cholestasis
syphilis
leptospirosis
parasite neonatal cholestasis
toxoplasmosis
malaria
toxocariasis
histoplasmosis
congenital rubella syndrome
- heart disease
- petechiae/purpura rash
- microcephaly
- eye - cataracta, nystagmus, glaucoma
congenital syphilis
dracula teeth
nasal chondritis - snuffles
early congenital - before 2yo - hepatosplenomegaly
-nasal chondritis - snuffles
late congenital - after 2yo - craniofacial malformation, dental changes, deafnes
toxoplasmosis
most common intrauterine infection - developing countries
posterior uveitis
posterior uveitis
toxoplasmosis
destruction of retina
metabolic neonatal stasis
galactosemia glycogen storage disease FA oxidation - SCAD urea cycle defects tyrosinemia lysosomal storage diseases
ammonia levels
urea cycle defects
galactosemia
brain damage, cataracts, jaundice, enlarged liver, kidney damage
unmetabolized milk sugars build up and damage liver, eyes, kidneys, and brain
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
