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.
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