Neonatal Cholestasis CIS - Brandau/Tieman Flashcards Preview

Year2 GI Exam II > Neonatal Cholestasis CIS - Brandau/Tieman > Flashcards

Flashcards in Neonatal Cholestasis CIS - Brandau/Tieman Deck (50):
1

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**

2

jaundice at birth

needs to be worked up

3

left sternal border murmur

pulmonary valve

4

unconjugated bilirubin

indirect
-cross BBB
-carried by albumin
-kernicterus
-destruction of heme

5

jaundice in an otherwise health infant

physiologic jaundice

6

physiologic jaundice

gone by 10 days
-indirect jaundice high

7

breast milk jaundic

prolonged indirect bilirubin

8

clue for toxo infection

pet cat

9

endocrine before 2 months old

hypothyroidism - very common picked up on screening

10

viral neonatal cholestasis

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

11

bacterial neonatal cholestasis

UTI
sepsis
listerosis
TB

12

spirochete neonatal cholestasis

syphilis
leptospirosis

13

parasite neonatal cholestasis

toxoplasmosis
malaria
toxocariasis
histoplasmosis

14

congenital rubella syndrome

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

15

congenital syphilis

dracula teeth
nasal chondritis - snuffles

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

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

16

toxoplasmosis

most common intrauterine infection - developing countries

posterior uveitis

17

posterior uveitis

toxoplasmosis

destruction of retina

18

metabolic neonatal stasis

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

19

ammonia levels

urea cycle defects

20

galactosemia

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

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

21

glycogen storage type IV

branching enzyme deficiency
-auto recessive

glycogen with fewer branching points

progressive liver failure early in life

22

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

23

gaucher disease type 2

acute and infantile

hepatomegaly and splenomegaly

hydrops fetalis

anemia thrombocytopenia

bulbar palsies, hypertonic

arthrogyrposis - joint contractures

24

genetic neonatal cholestasis

CF
trisomy 13, 18, 21
turner
alpha1 antitrypsin

25

edwards syndrome

trisomy 18

26

patau syndrome

trisomy 13

27

turner syndrome

web neck in newborn

wide nipples

spots on skin

28

alpha1 antitrypsin deficieny

damage lung and liver

neutrophil elastase problems

29

congenital hypothyroidism

jaundice

hypotonic

large tongue

delayed closure fontanelles**

coarse facial features

mental retardation problems if don't pick up

30

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)

31

arteriohepatic dysplasia

aliagille syndrome

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

32

most common cause of neonatal cholestasis

idiopathic neonatal hepatitis 35%

extrahepatic biliary atresia 30%

alpha 1 antitrypsin 10%

33

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

cholestasis

34

intrahepatic

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

35

extrahepatic

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

36

neonatal obstructive jaundice

must be considered jaundice after 14 days old**

37

physiologic jaundice

does not extend beyond 2 weeks

38

acholic stool

yellow
-because no bilirubin
-neonatal obstructive jaundice

39

most common cause neonatal obstructive jaundice

biliary atresia**

also choledochal cyst and infections

40

biliary atresia

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

more in females

unknown etiology**

41

most common cause of hepatic death and need for liver transplant

biliary atresia

42

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

43

Tx for biliary atresia

porto-enterostomy - kasal procedure

if done less than 60 days of age

44

intraoperative cholangiogram

looking for ductal system

45

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**

46

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

47

tx of choledocal cyst

should be resected - risk of malignancy and cholangitis

48

diagnosis of choledochal cyst

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

49

type II choledochal cyst

easiest to resect

50

carolis disease

type V choledochal cysts

intrahepatic cysts - hard to resect

need liver transplant