Neonatal case conference- cholestasis, Brandau 12/9 Flashcards
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
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)
ddx neonatal choestatsis
infeciton metabolic disorders endocrine genetic familial intrahepatic cholestatic syndromes anatomical or obstructive disorders
viral causes neonatal cholestasis
adeno, CMV, coxsackievirus, EBV, enterovirus, hep A B C, HSV, HIV, parvo, reo, rubella
what bacteria can cause neonatal cholestasis
UTI, sepsis, listerosis, TB
spirochete that can cause neonatal cholestasis
syphillis, leptospirosis
parasites that can cause neonatal cholestasis
toxo, malaria, toxo, histoplasmosis
Characteristics of congenital rubella syndrome
microcephaly
heart disease
petechiae and purpura
cataracts, glaucoma, strabismus, nystagmuc, microphthalmia and iris dysplasia
early congenital syphilis
presentation before 2 yrs age prematurity and intrauterine growth retardation HSM nasal chondritis skin rash osteochondritis neuro
late congenital syphillis
presentation after 2 yrs age craniofacial malformation dental abnormalities interstitial keratitis deafness neurosyphillis paroxysmal cold hemoglobinuria
what is most common intrauterine infection in developing countries
toxoplasmosis
most common cause posterior uveitis
toxo
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)
signs galactosemia
brain damage
cataracts
jaundice
enlarged liver
What is Andersen Disease
auto recessive deficiency in glycogen branching enzyme
manifestations tyrosinemia 1 in infants
diarrhea bloody stools vomiting poor weight gain extreme sleepiness irritability cabbage lige odor to skin or urine
liver problems with tyrosinemia 1 in infants
enlarged liver, jaundice, tendency to bleed, swelling of legs and abdomen
gaucher disease type II
acute or infantile
rapidly progressive and fatal
HSM
anemia thrombocytopenia
genetic causes neonatal cholestasis
CF
trisomy: 13 18 21
turner syndrome
alpha-1 antitrypsin deficiency
endocrine causes of neonatal cholestasis
hypothyroidism
hypopituitarism
what occurs with unTx congenital hypothyroidism
jaundice, poor feeding, hypotonia macroglossia large fontanelles course facial features mental retardation short stature
how do you Dx congenital hypothyroidism
low t4
high TSH
what are the familial intrahepatic cholestatic syndromes
alagille syndrome (arteriohepatic dysplasia)
byler disease (progressive familial intrahepatic choestasis)
carioli disease
“idiopathic” neonatal hepatitis
what is alagille syndrome
auto dominant
assoc findings: cholestati liver disease, pulmonary valvar stenosis or atresia, vasculopathy, renal disease
