Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis

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.

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.

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.