肝臓ジャーナル: 病気と移植

Hepatic Glycogenosis in a Patient with Type 1 Myotonic Dystrophy

Marla Wolfert, Sherri L Yong, Carolyn Jones, John Herbick and Claus J Fimmel

Hepatic Glycogenosis in a Patient with Type 1 Myotonic Dystrophy

Myotonic dystrophy is an autosomal dominant, inherited disorder, characterized by progressive distal muscle weakness and impaired muscle relaxation. DM1 patients may present with elevated transaminases that are typically related to metabolic syndrome and non-alcoholic fatty liver disease. We report a patient whose diagnosis of DM1 was established after an initial referral for abnormal transaminases. On liver biopsy, the patient was found to have no evidence of NASH, but abnormal glycogen deposits in hepatocytes. The potential link between hepatocyte glycogen storage and DM1 remains to be further explored.