Hepatocarcinoma in a child with cholesterol ester storage disease

1 d Diagnosis of cholesterol ester storage disease (CESD) as suggested in a 5-year-old girl by a liver biopsy perormed because of a large hepatomegaly of fortuitous nding, and confirmed by the measurement of lysosomal cid lipase activity in cultured skin fibroblasts. The patient eveloped portal hypertension and a new liver biopsy, hen 11-year-old, showed micronodular cirrhosis with iffuse microvesicular steatosis. The child was listed for iver transplantation and received an extended right lobe raft (segments I + IV + VIII) obtained by in situ split liver rocurement from a 13-year-old donor. Histological examination of the native liver showed iffuse cirrhotic transformation, mild mixed inflammaory infiltrate, hydropic degeneration and microvesicular teatosis. A 1.4 cm non-encapsulated nodule of trabecuar hepatocellular carcinoma (HCC) (G1/G2) was identified n segment VII (Figs. 1 and 2). Patient underwent postransplant total body CT scan that excluded extra hepatic ocalizations. Post-operative -fetoprotein was normal. The atient did not received adjuvant chemotherapy and 30 onths after transplantation she is in good clinical condition, ithout evidence of HCC recurrence. CESD is a rare autosomal recessive disorder characterzed by accumulation of cholesterol esters and triglycerides n hepatocytes, adrenal cortical spongiocytes, and in histioytes. Patients with CESD may develop a progressive liver ailure necessitating liver transplantation. HCC has been described in a number of genetic and etabolic disorders in children including progressive familal intrahepatic cholestasis, Alagille syndrome, hereditary yrosinemia type I, glycogen storage diseases, alpha-1ntitrypsin deficiency, liver mitochondrial respiratory chain