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Glycogen storage disease type Ia (GSD Ia) is a rare disease caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase). Here, we report a 17-year-old Chinese boy with GSD Ia. Clinical manifestations of the patient included hepatomegaly, growth retardation, doll face, and biochemical abnormalities, including hypoglycaemia, hyperuricaemia, and hyperlipidaemia. The computed tomography (CT) and gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid (Gd-EOB-DTPA) magnetic resonance imaging (MRI) revealed multiple masses in the left and right hemiliver. These masses presented as different dynamic enhanced patterns in the Gd-EOB-DTPA MRI. In addition, a large amount of glycogen deposit was detected in the liver tissue biopsy. Liver puncture confirmed that the masses were hepatocellular adenomas (HCAs). Genetic analyses confirmed the presence of liver metabolic disease, and the final clinical diagnostic was GSD Ia. The patient's clinical manifestations were significantly improved following regular treatment with raw corn starch for 9 months. Unfortunately, it was suspected that parts of the adenoma had undergone malignant transformation.

quantitative imaging in medicine and surgery

A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging