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Hindi Case Report, J Liver Dis Transplant Vol: 2 Issue: 2
Hepatic Glycogenosis in a Patient with Type 1 Myotonic Dystrophy
| Marla Wolfert1*, Sherri L Yong2, Carolyn Jones3, John Herbick4 and Claus J Fimmel1 | |
| 1Department of Internal Medicine, Division of Gastroenterology, Loyola University Medical Center, Maywood, IL 60153, USA | |
| 2Department of Pathology, Loyola University Medical Center, Maywood, IL 60153, USA | |
| 3Clinical Genetics Services, Cadence Health, Winfield, IL 60190, USA | |
| 4Primary Health Associates, 12701 W. 143rdStreet, Homer Glen, IL 60491-7715, USA | |
| Corresponding author : Marla Wolfert, M.D. Department of Internal Medicine, Division of Gastroenterology, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153, USA Tel: 708-216-9230; Fax: 708-216-4113 E-mail: mwolfert@lumc.edu |
|
| Received: December 27, 2012 Accepted: May 30, 2013 Published: June 02, 2013 | |
| Citation: Wolfert M, Yong SL, Jones C, Herbick J, Fimmel CJ (2013) Hepatic Glycogenosis in a Patient with Type 1 Myotonic Dystrophy. J Liver: Dis Transplant 2:1. doi:10.4172/2325-9612.1000110 |
Abstract
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.
