Congenital wilson&;s disease is characterized by
Wilson disease is an inborn error of metabolism due to toxic accumulation of copper in liver,brain,cornea and other tissues.Manifestations are more likely to be hepatic in early childhood & neurological in adolescents or adults.The spectrum of hepatic manifestations include all forms of acute or chronic liver disease,i.e.,&;viral hepatitis&; like illness,acute liver failure,chronic hepatitis,poal hypeension,cirrhosis or asymptomatic hepatomegaly.KF (Kayser-Fleischer)/rings are most common in children with neurological(96%) than hepatic(60%) Wilson disease. Wilson disease is characterised by decreased serum ceruloplasmin & increased urinary copper excretion with increased hepatic copper stores. Reference:Essential pediatrics-Ghai,8th edition,page no:320,321
KF ring is present at bih
May present as acute hepatitis
Decreased Urinary copper excretion
Decreased hepatic copper concentration
Metabolic disorders