Indian J Gastroenterol (January–February 2014) 33(1):59–62 DOI 10.1007/s12664-013-0392-4
CASE SERIES
Alagille syndrome: Experience of a tertiary care center in North India Anshu Srivastava & Deepak Goel & Rishi Bolia & Ujjal Poddar & Surender Kumar Yachha
Received: 6 May 2013 / Accepted: 20 August 2013 / Published online: 6 September 2013 # Indian Society of Gastroenterology 2013
Abstract Alagille syndrome (AGS) is an autosomal dominant disorder of chronic cholestasis characterized by paucity of interlobular bile ducts. The condition has been described only as isolated case reports in India. We describe clinical profile and outcome of nine subjects (six infants and three older children) with AGS. Cholestasis and characteristic facies were present in all, followed by congenital heart disease, vertebral anomalies, and posterior embryotoxon in seven, five, and four cases, respectively. Pruritus was the commonest symptom which was refractory to medical treatment in one third of cases. Two cases developed decompensated liver disease on follow up. High index of suspicion for this multisystemic condition is essential for correct diagnosis and management. Keywords Bile ductular paucity . Childhood . Cholestasis . Liver disease . Pruritus
Introduction Alagille syndrome (AGS) is an autosomal dominant disorder with highly variable expression. Majority of cases are due to defect (mutation or deletion) of the Jagged1 (JAG1) gene on 20p11.2-20p12 and few (
CASE SERIES
Alagille syndrome: Experience of a tertiary care center in North India Anshu Srivastava & Deepak Goel & Rishi Bolia & Ujjal Poddar & Surender Kumar Yachha
Received: 6 May 2013 / Accepted: 20 August 2013 / Published online: 6 September 2013 # Indian Society of Gastroenterology 2013
Abstract Alagille syndrome (AGS) is an autosomal dominant disorder of chronic cholestasis characterized by paucity of interlobular bile ducts. The condition has been described only as isolated case reports in India. We describe clinical profile and outcome of nine subjects (six infants and three older children) with AGS. Cholestasis and characteristic facies were present in all, followed by congenital heart disease, vertebral anomalies, and posterior embryotoxon in seven, five, and four cases, respectively. Pruritus was the commonest symptom which was refractory to medical treatment in one third of cases. Two cases developed decompensated liver disease on follow up. High index of suspicion for this multisystemic condition is essential for correct diagnosis and management. Keywords Bile ductular paucity . Childhood . Cholestasis . Liver disease . Pruritus
Introduction Alagille syndrome (AGS) is an autosomal dominant disorder with highly variable expression. Majority of cases are due to defect (mutation or deletion) of the Jagged1 (JAG1) gene on 20p11.2-20p12 and few (
