title: Abnormal liver function tests in a patient with myotonic dystrophy type 1.
abstract: Myotonic dystrophy type 1, also known as Steinert's disease, is a multisystemic disorder with significant genetic and clinical heterogeneity. Apart from skeletal muscles' myotonia and wasting, a variety of system organs can be affected. We report on a 49 years old female patient with unremarkable medical and family  history, who presented with elevated liver enzymes without signs or symptoms of chronic liver disease neither neurological features. Initial assessment, including liver biopsy, did not reveal the cause of these abnormalities.  Eight  months  later,  she  complained  for  disequilibrium  and  eventually  electromyography confirmed the diagnosis of Steinert's disease. Steinert's disease should be considered in the differential diagnosis of patients with elevated liver enzymes, as long as abnormal liver tests may be the initial presentation. The pathophysiological mechanism of this abnormality remains unclear.
authors.affiliation: Department of Gastroenterology, University Hospital of Patras, Greece. mariakalaf@hotmail.com
authors.forename: Maria
authors.initials: M
authors.lastname: Kalafateli
authors.forename: Christos
authors.initials: C
authors.lastname: Triantos
authors.forename: Athanasios
authors.initials: A
authors.lastname: Tsamandas
authors.forename: Gerasimos
authors.initials: G
authors.lastname: Kounadis
authors.forename: Chryssoula
authors.initials: C
authors.lastname: Labropoulou-Karatza
mesh_terms: D000410:Alanine Transaminase / Q000378:metabolism; D001219:Aspartate Aminotransferases / Q000378:metabolism; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008099:Liver / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology*; D008111:Liver Function Tests; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology*; D005723:gamma-Glutamyltransferase / Q000378:metabolism
chemical_list: D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase