EPITHELIAL HEPATOBLASTOMA ASSOCIATED WITH CONGENITAL HEMIHYPERTROPHY AND CYSTATHIONINURIA: PRESENTATION OF A CASE

Abstract

A 13-month-old boy with hepatoblastoma and hemihypertrophy is presented; this is the fifth known case with this association. Histological study showed that hemihypertrophy was related to cellular hyperplasia but not to hypertrophy of individual cells. Karyotypes of leukocytes and of skin fibroblasts from both sides of the body were normal. The association of hemihypertrophy and hepatoblastoma stresses the dysontogenetic origin of this neoplasm and signals the possibility of this tumor in children with asymmetry. Our patient showed cystathioninuria, which was related to the high content of cystathionine in his tumor. The presence of cystathioninuria in 7 of 10 patients with hepatoblastoma so far examined, shows the usefulness of urinary amino acid screening in the diagnosis of this rare childhood neoplasm.