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)
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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)