Focal nodular hyperplasia in an adolescent with glycogen storage disease type I with mesocaval shunt operation in childhood: a case report and review of the literature

Abstract

As patients with glycogen storage disease type I survive longer, cases with hepatic tumor have been increasingly documented. A 16 year old boy with glycogen storage disease type I was evaluated for multiple liver tumors. He was diagnosed on clinical features at 9 months of age and underwent a mesocaval shunt operation at 5 years of age. The biopsy of one of the masses showed focal nodular hyperplasia. This is uncommon in patients with glycogen storage disease type I, compared to those with adenoma or malignant hepatic tumor. The association of a portacaval shunt with focal nodular hyperplasia is significant compared to other tumors. An environment of high estrogen concentration or sex hormone binding globulin accompanied by shunt operation may cause focal nodular hyperplasia to develop in the liver of patients with glycogen storage disease type I.

Hepatocellular adenoma in glycogen storage disorder type I: a clinicopathological and molecular study

“…Whether FNH is related pathogenetically to HCA or is secondary to local vascular supply disturbance remains unknown 27,28 . Of note, FNH has been described in GSDI following porto‐caval shunt surgery 29,30 …”

“…27,28 Of note, FNH has been described in GSDI following porto-caval shunt surgery. 29,30 In our series, the distinction between FNH and IHCA was difficult in some and depended ultimately on balancing the morphological features and the immunohistochemical staining patterns, with particular emphasis given to SAA expression. This is not surprising, given that IHCA was originally considered a variant of FNH, and in view of the recent advances in the field.…”

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

“…With longer survival of patients with type-Ia glycogen-storage disease, cases with hepatic tumours (mostly adenomas) have been increasingly demonstrated [23]. Adenomas are also known to be associated with the use of oral contraceptives, a condition known to increase oestrogen in the systemic circulation [24]. Interestingly, sex is regarded as a definite risk factor of primary pulmonary hypertension with a female:male ratio exceeding 1:1.7 in large cohorts, indicating that hormonal influences play a part in these pulmonary vascular diseases [25].…”

Focal Nodular Hyperplasia (FNH) of the Liver

“…Congenital SIPSS usually result from patent ductus venosus (Arantii) or vitelline veins. Spontaneous intrahepatic portosystemic shunts (Lalonde et al 1992;Landen and Delugeau 2003), spontaneous intrahepatic portohepatic shunts (Materne and Van Beers 1998), mesocaval shunts (Sakatoku et al 1996), and intrahepatic portoportal communications in the absence of the horizontal segment of the right portal vein and the umbilical portion of the left portal vein (Mignon et al 1996) were associated with FNH.…”