Which is wrong about Crigler-Najjar syndrome Type - 1
Criggler Najjar syndrome Feature Type 1 Type 2 Total serum bilirubin (mg/dl) 18-45(usually >20)) 6-25(usually 20) Routine liver tests normal Normal Response to phenobarbitone None Decreases bilirubin by >25% Kernicterus Usual Rare Hepatic histology Normal Normal Bile characteristics. Color Pale or colorless pigmented Bilirubin fractions >90% unconjugated Largest fraction (mean:57%) monoconjugates Bilirubin UDP-glucuronosyl transferase activity Typically absent, traces in some patients Markedly reduced :0-10% of normal Inheritance Recessive Predominantly recessive (AR>AD)
Very high level of unconjugated bilirubin occurs in Neonatal period
Kernicterus is usual
It responds well to phenobarbitone
Hepatic histology is normal
General anatomy