Glycogen storage disease (Glycogenosis)

Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term complication and is reported mainly in older patients. Because of the enzyme deficiency, large quantities of glycogen are deposited in the hepatocytes and proximal convoluted tubules of the kidney.

Ultrasound features

• Sonographically, type 1 GSD appears indistinguishable from other causes of difuse fatty infiltration.
• Well-demarkated solid masses of variable echogenicity, reffered to as secondary hepatic adenomas. Malignant transformation can be recognized by rapid growth of the lesions, which may become more poorly defined