Syndromatic Hepatic Ductular Hypoplasia (Alagille Syndrome) in a Nigerian: A Case Report.

Abstract

Summary: We report what, as far as we are aware, is the first docu mented case of Alagille syndrome which is characterised by chronic cholestasis, characteristic facies, pulmonary stenosis and defects of the vertebral arch, in a Nigerian girl who presented at the age of two days and was followed up intermittently for a period of 10.5 years. The biochemi cal indices suggestive of cholestasis in the patient improved with age while the height and weight remained suboptimal. The patient had two percutaneous liver biopsies with the second biopsy being consistent with paucity of interiobuiar bile duct syndrome. The characteristic facial features suggestive of the Alagille syndrome and ciinical and echocardiographic evidence of puimonary stenosis were first observed at the age of 58 months. This syndrome although rare, should be considered in the differential diagnosis of conjugated hyperbilirubinaemia in Nigerian children.