Neonatal case conference- cholestasis, Brandau 12/9

Question 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?

Answer 1

liver enzymes
bilirubin
CBC

Question 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?

Answer 2

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

Question 3

ddx neonatal choestatsis

Answer 3

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

Question 4

viral causes neonatal cholestasis

Answer 4

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

Question 5

what bacteria can cause neonatal cholestasis

Answer 5

UTI, sepsis, listerosis, TB

Question 6

spirochete that can cause neonatal cholestasis

Answer 6

syphillis, leptospirosis

Question 7

parasites that can cause neonatal cholestasis

Answer 7

toxo, malaria, toxo, histoplasmosis

Question 8

Characteristics of congenital rubella syndrome

Answer 8

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

Question 9

early congenital syphilis

Answer 9

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

Question 10

late congenital syphillis

Answer 10

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

Question 11

what is most common intrauterine infection in developing countries

Answer 11

toxoplasmosis

Question 12

most common cause posterior uveitis

Answer 12

toxo

Question 13

metabolic causes neonatal stasis

Answer 13

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

Question 14

signs galactosemia

Answer 14

brain damage
cataracts
jaundice
enlarged liver

Question 15

What is Andersen Disease

Answer 15

auto recessive deficiency in glycogen branching enzyme

Question 16

manifestations tyrosinemia 1 in infants

Answer 16

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

Question 17

liver problems with tyrosinemia 1 in infants

Answer 17

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

Question 18

gaucher disease type II

acute or infantile

Answer 18

rapidly progressive and fatal
HSM
anemia thrombocytopenia

Question 19

genetic causes neonatal cholestasis

Answer 19

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

Question 20

endocrine causes of neonatal cholestasis

Answer 20

hypothyroidism

hypopituitarism

Question 21

what occurs with unTx congenital hypothyroidism

Answer 21

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

Question 22

how do you Dx congenital hypothyroidism

Answer 22

low t4

high TSH

Question 23

what are the familial intrahepatic cholestatic syndromes

Answer 23

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

Question 24

what is alagille syndrome

Answer 24

auto dominant

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

Question 25

2 most common causes cholestasis in neonate

Answer 25

idiopathic neonatal hepatitis

extrahepatic biliary atresia