Focal nodular hyperplasia of the liver and hypercholesterolemia in a child with VACTERL syndrome

Focal nodular hyperplasia (FNH) of the liver is a benign, usually asymptomatic, hepatic abnormality. VACTERL syndrome (the acronym for a syndrome with anatomical abnormalities including vertebral defects, anal atresia, cardiovascular defects, tra-cheoesophageal fistula, and renal and limb anomalies) has been widely described in the pediatric population (1-3). Several anatomical abnormalities have been associated with FNH, but an association between FNH and VACTERL syndrome has not been previously reported. Hypercholesterolemia (>175 mg/dl) has been reported with hepatic malignancy in infants and children but not in patients with FNH (4,5). We describe a child with VACTERL syndrome, FNH, and hypercholesterolemia, in whom the hypercholesterolemia resolved after excision of the tumor, only to rise with the recurrence of FNH.