Neonatal case conference- cholestasis, Brandau 12/9 Flashcards Preview

Year2 GI Exam II > Neonatal case conference- cholestasis, Brandau 12/9 > Flashcards

Flashcards in Neonatal case conference- cholestasis, Brandau 12/9 Deck (25):
1

10 wk old infant visibly jaundiced
infections denied, breastfed since birth and yellow from birth
at 8 weeks was switch to formula
Hx: colikcy and fussy, - fever. no changes in appetite and urine output
stools always yellow in color
hepatomegaly, no edema
labs?

liver enzymes
bilirubin
CBC

2

10 wk old infant visibly jaundiced
total bilirubin 10.1 mg/dL
direct 6.3 mg/dL
AST elevated
ALT elevated
AKP elevated
norm WBC
elevated platelets
NOT on DDx?

physiologic jaundice( not physiologic if develops 36 hrs age, persists >10 days or if direct >20% of total
breast milk jaundice (usually unconjugated)

3

ddx neonatal choestatsis

infeciton
metabolic disorders
endocrine
genetic
familial intrahepatic cholestatic syndromes
anatomical or obstructive disorders

4

viral causes neonatal cholestasis

adeno, CMV, coxsackievirus, EBV, enterovirus, hep A B C, HSV, HIV, parvo, reo, rubella

5

what bacteria can cause neonatal cholestasis

UTI, sepsis, listerosis, TB

6

spirochete that can cause neonatal cholestasis

syphillis, leptospirosis

7

parasites that can cause neonatal cholestasis

toxo, malaria, toxo, histoplasmosis

8

Characteristics of congenital rubella syndrome

microcephaly
heart disease
petechiae and purpura
cataracts, glaucoma, strabismus, nystagmuc, microphthalmia and iris dysplasia

9

early congenital syphilis

presentation before 2 yrs age
prematurity and intrauterine growth retardation
HSM
nasal chondritis
skin rash
osteochondritis
neuro

10

late congenital syphillis

presentation after 2 yrs age
craniofacial malformation
dental abnormalities
interstitial keratitis
deafness
neurosyphillis
paroxysmal cold hemoglobinuria

11

what is most common intrauterine infection in developing countries

toxoplasmosis

12

most common cause posterior uveitis

toxo

13

metabolic causes neonatal stasis

galactosemia
glycogen storage disease type 4
fatty acid oxidation defects
urea cycle defects, arginase deficiency
tyrosinemia
lysosomal storage diseases (Gaucher, Farber Woman, Niemann-Pick)

14

signs galactosemia

brain damage
cataracts
jaundice
enlarged liver

15

What is Andersen Disease

auto recessive deficiency in glycogen branching enzyme

16

manifestations tyrosinemia 1 in infants

diarrhea
bloody stools
vomiting
poor weight gain
extreme sleepiness
irritability
cabbage lige odor to skin or urine

17

liver problems with tyrosinemia 1 in infants

enlarged liver, jaundice, tendency to bleed, swelling of legs and abdomen

18

gaucher disease type II
(acute or infantile)

rapidly progressive and fatal
HSM
anemia thrombocytopenia

19

genetic causes neonatal cholestasis

CF
trisomy: 13 18 21
turner syndrome
alpha-1 antitrypsin deficiency

20

endocrine causes of neonatal cholestasis

hypothyroidism
hypopituitarism

21

what occurs with unTx congenital hypothyroidism

jaundice, poor feeding, hypotonia
macroglossia
large fontanelles
course facial features
mental retardation
short stature

22

how do you Dx congenital hypothyroidism

low t4
high TSH

23

what are the familial intrahepatic cholestatic syndromes

alagille syndrome (arteriohepatic dysplasia)
byler disease (progressive familial intrahepatic choestasis)
carioli disease
"idiopathic" neonatal hepatitis

24

what is alagille syndrome

auto dominant
assoc findings: cholestati liver disease, pulmonary valvar stenosis or atresia, vasculopathy, renal disease

25

2 most common causes cholestasis in neonate

idiopathic neonatal hepatitis
extrahepatic biliary atresia