Hepatic focal nodular hyperplasia with congenital portosystemic shunt

Pediatr Int. 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456.


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.

Keywords: contrast-enhanced ultrasonography; galactosemia; hepatic focal nodular hyperplasia; portosystemic shunt.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Focal Nodular Hyperplasia / diagnosis*
  • Focal Nodular Hyperplasia / etiology*
  • Focal Nodular Hyperplasia / therapy
  • Humans
  • Infant
  • Portal Vein / abnormalities*
  • Vascular Malformations / complications*
  • Vascular Malformations / diagnosis*
  • Vascular Malformations / therapy

Supplementary concepts

  • Patent Ductus Venosus