Gastrointestinal ImagingGlycogen storage disease, hepatic
inherited metabolic disorder, characterized by an abnormality in the breakdown of glycogen to glucose, which is reflected in abnormal structure or concentration of glycogen. Type I glycogen storage disease (von Gierkes disease) is the most common form. It is due to deficiency of Glucose-6-phosphatase in the liver and kidneys and leads to impaired breakdown of stored glycogen, causing glycogen accumulation in hepatocytes and proximal tubules.
Hepatomegaly, hypoglycaemia and hyperlipidaemia are usually present. Adenoma and hepatocellular carcinoma develop commonly in the affected liver, particularly in patients with Type I disease. With long-standing disease, some patients may develop cirrhosis and portal hypertension.
Sonography demonstrates hepatomegaly with increased echogenicity, which may be due to steatosis or excess glycogen deposition. The features of adenomas or hepatocellular carcinoma are similar to those seen in patients without glycogen storage disease: the lesions may appear hypo-, iso- or hyperechoic compared to the normal liver.
On CT the attenuation of the enlarged liver is commonly slightly or moderately decreased due to the dominant effect caused by the associated fatty infiltration. But the attenuation may also be abnormally elevated, if a relative large amount of glycogen is present. The CT appearance of adenomas and hepatocellular carcinomas is not different from that seen in other tumours of the same nature.
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