title: Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis.
abstract: OBJECTIVE
  Though the liver is frequently affected in myotonic dystrophy type 1 and 2 (DM1, DM2), non-alcoholic and non-hepatitic liver cirrhosis have not been reported as a manifestation of DM2.
  
  
  METHODS
  In a 52-year-old Caucasian male with DM2, the disease manifested as myopathy, mild myotonia, cataract, diabetes, erectile dysfunction, gastrointestinal dysmotility, dysarthria, mild myocardial thickening and non-alcoholic and non-hepatitic liver cirrhosis with portal hypertension and oesophageal varicosities since age 48 years. His 69-year-old sister, who carried a CCTG expansion of >300 in intron 1 of the CNBP/ZNF9 gene, also manifested in the liver with hyperbilirubinaemia, hepatopathy and hyperlipidaemia since age 48 years. Liver cirrhosis in the index patient was complicated by hyperamonemia, hepatic encephalopathy and flapping tremor.
  
  
  CONCLUSIONS
  Rarely, DM2 may also manifest in the liver with elevated transaminases, steatosis or non-alcoholic, non-hepatitic liver cirrhosis with its common complications. In patients with cryptogenic non-alcoholic, non-hepatitic liver cirrhosis or cataract before age 50 years, DM2 should be excluded.
authors.affiliation: Krankenanstalt Rudolfstiftung , Vienna, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Finsterer
authors.forename: A
authors.initials: A
authors.lastname: Karpatova
authors.forename: H
authors.initials: H
authors.lastname: Rauschka
authors.forename: M
authors.initials: M
authors.lastname: Loewe-Grgurin
authors.forename: M
authors.initials: M
authors.lastname: Frank
authors.forename: M
authors.initials: M
authors.lastname: Gencik
mesh_terms: D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis*; D010375:Pedigree
keywords: Cirrhosis; Encephalopathy; Gastrointestinal; Hepatopathy; Liver failure; Muscular dystrophy; Myotonia