Abdominal Imaging Findings of a Patient with Hepatocellular Carcinoma Associated with Glycogen Storage Disease Type 1a

Abstract

A hepatic tumor was found in a 57-year-old man with glycogen storage disease type 1a (GSD1a) with a mutation in exon 5 of the glucose-6-phosphatase gene (G727T). Partial hepatectomy was performed, and the tumor was histologically diagnosed as moderately differentiated hepatocellular carcinoma (HCC). On contrast-enhanced ultrasonography, the tumor had a late phase defect. Abdominal imaging with other modalities was also performed. More studies are needed to clarify the differences in imaging findings between GSD1a-associated HCC and other tumors such as adenomas.

Case of cholangiocellular carcinoma in a patient with glycogen storage disease type Ia

“…HEPATOCELLULAR ADENOMA IS a frequent long‐term complication of patients with GSD type Ia . Malignant transformation from HCA to HCC in these patients has been documented in several reports . With prevalence ranging 22–75% of patients with GSD type Ia, HCA typically emerges by the second or third decade of life.…”

“…5 Malignant transformation from HCA to HCC in these patients has been documented in several reports. 5,6 With prevalence ranging 22-75% of patients with GSD type Ia, HCA typically emerges by the second or third decade of life. HCA formation in GSD type I is reported to be associated with constant hormonal stimulation of the liver.…”

Etiology and Pathogenesis of Hepatocellular Carcinoma: Hepatocellular Carcinoma Associated with Inborn Errors of Metabolism and Hepatobiliary Malformations

“…Selected References Zangeneh et al 1969;Grossman et al 1981;Limmer et al 1988;Conti and Kemeny 1992;Bianchi 1993;Franco et al 2005;Okuda et al 2009;Manzia et al 2011;Ochi et al 2011;Bashir et al 2012;and Mikuriya et al 2012. Glycogenosis type Ia is a very rare disorder, with an incidence of 1 in 100,000 to 1 in 300,000 live births, and is chiefly characterized by hepatomegaly, a rounded doll-like face, growth retardation, hypoglycemia during fasting, and a hemorrhagic diathesis caused by impaired platelet aggregation. A well-known and common hepatic complication of this glycogenosis is the emergence of liver cell adenoma, which was detected by sonography in up to 73 % of patients (Talente et al 1994).…”

Hepatocellular carcinoma with glycogen storage disease type 1a

“…Since patients with GSD Ia live longer, HCC has been noted as a long term complication in several patients with GSD Ia. [1][2][3][4] However, the natural history and pathophysiology of the disease condition remain poorly understood. [1][2][3][4][5] A practice guideline recommended that in individuals with GSD Ia, liver ultrasounds should be performed to test for HAs every 12-24 months: and with increasing age, CT or MRI should be performed to detect evidences of increasing lesion.…”