title: Hepatic focal nodular hyperplasia with congenital portosystemic shunt.
abstract: Hepatic focal nodular hyperplasia (FNH) is a rare benign tumor in children. Vascular anomalies have been identified as pathological features of FNH, but the etiology remains unclear. We describe a rare case including the time course of formation of hepatic FNH in response to congenital portosystemic shunt (PSS). A 4-month-old girl was identified on newborn mass screening to have hypergalactosemia, but no inherited deficiencies in galactose-metabolizing enzymes were found. Ultrasonography and per-rectal portal scintigraphy showed intrahepatic PSS of the right lobe as a cause of the hypergalactosemia. At age 12 months, the patient had elevated hepatic enzymes and small hypoechoic hepatic lesions around the shunt. On abdominal contrast-enhanced ultrasonography spoke-wheel sign and central stellate scar were seen, which are typical features of hepatic FNH without biopsy. Congenital intrahepatic PSS should be evaluated on abdominal contrast-enhanced ultrasonography and observed over time because of its potential to develop into hepatic FNH.
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Cho
authors.affiliation: Department of Radiology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Taro
authors.initials: T
authors.lastname: Shimono
authors.affiliation: Department of Hepatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Morikawa
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shintaku
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Tokuhara
mesh_terms: D005260:Female; D020518:Focal Nodular Hyperplasia / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007223:Infant; D011169:Portal Vein / Q000002:abnormalities*; D054079:Vascular Malformations / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy
keywords: contrast-enhanced ultrasonography; galactosemia; hepatic focal nodular hyperplasia; portosystemic shunt