Which is wrong about Crigler-Najjar syndrome Type - 1: (A) Very high level of unconjugated bilirubin occurs in Neonatal period, (B) Kernicterus is usual, (C) It responds well to phenobarbitone, (D) Hepatic histology is normal
Answer is C. 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)