Introduction: Liver transplantation is a curative treatment modality in children with end stage liver disease in Alagille syndrome.Clinical Picture: We report a 3-year-old child with this condition who had severe hypercholesterolaemia, pruritus and extensive xanthomatosis. Treatment: Liver transplantation was performed in this patient. Outcome: He recovered well with normalisation of his lipid profile. This procedure also resulted in resolution of the disfiguring xanthomatosis.
Alagille syndrome (AS) or arteriohepatic dysplasia is a genetic disorder transmitted in an autosomal dominant inheritance. The chromosomal abnormality has been identified to the short arm of chromosome 20.
This article is available only as a PDF. Please click on “Download PDF” on top to view the full article.