Focal lesions in the liver in the course of glycogenosis type I : in CT and MR images

Background: Glycogenosis type I (von Gierke's disease) is an inherited hepatic glycogen storage disease. The main diagnostic criteria are: hepatomegaly, hypoglycemia and hyperlacticacidemia. Its transmission is autosomal recessive. Depending on the intensity of fatty degeneration and amount of glycogen, the liver density may be decreased, normal or increased. Hepatocellular adenomas develop in most patients and malignant degeneration of adenomas into hepatocellular carcinomas has been reported in some cases. Case Report: Two siblings with glycogenosis type I were initially followed up using US. Focal liver lesions detected in US were then followed up in CT and MR and reported as adenomas. However, some lesions enlarged considerably in the course of observation and developed foci of degeneration suspicious for malignant transformation, so were referred for biopsy. FNB repeated several times revealed no malignant transformation. Conclusions: Patients with glycogenosis type I must be periodically screened for malignant transformation of adenoma into hepatocellular carcinoma using biochemical markers and imaging. Suspicion of malignant transformation in imaging may be difficult to verify in cytology/pathology. Surgery/interventional radiology is suggested in every case of a lesion suspicious in imaging. Liver transplantation is recommended as a definite treatment.