Clinical and Molecular Hepatology  2017;23(3):260-264

doi:10.3350/cmh.2016.0057

A case of Alagille syndrome presenting with chronic cholestasis in an adult.

Jihye KIM 1 ; Bumhee YANG ; Namyoung PAIK ; Yon Ho CHOE ; Yong Han PAIK

Affiliations

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Keywords

Alagille syndrome; Cholestasis; Bile-duct paucity; JAG1; Adult

Country

Republic of Korea

Language

English

Abstract

Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.