Journal of Liver: Disease & TransplantationISSN: 2325-9612

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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: [email protected]
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.

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