Published online Sep 27, 2020. doi: 10.4254/wjh.v12.i9.685
Peer-review started: April 22, 2020
First decision: May 15, 2020
Revised: July 24, 2020
Accepted: August 1, 2020
Article in press: August 1, 2020
Published online: September 27, 2020
Myotonic dystrophy (MD) is sometimes accompanied by metabolic/endocrine disorders, including dyslipidemia, central obesity, and hypogonadism. Due to considerable individual differences in the severity and progression of myopathy, MD patients with minimal-to-mild muscle symptoms might be followed as having other diseases, such as non-alcoholic fatty liver disease (NAFLD).
A 40-year-old non-obese man without a history of regular ethanol consumption was referred to our hospital due to persistent liver dysfunction and hyperlipidemia. His body mass index was 23.4 kg/m2. Liver histology demonstrated macrovesicular steatosis, ballooned hepatocytes with eosinophilic inclusion bodies, and perisinusoidal fibrosis, leading to the diagnosis of non-alcoholic steatohepatitis (NASH). Although he had no discernable muscle pain or weakness, persistently high serum creatine kinase (CK) and myoglobin levels as well as the presence of frontal baldness, a hatched face, history of cataract surgery, and grip myotonia indicated the possibility of MD. Southern blotting of the patient’s DNA revealed the presence of CTG repeats, confirming the diagnosis.
When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered.
Core Tip: We describe a patient with non-alcoholic steatohepatitis (NASH) who was later diagnosed as having myotonic dystrophy (MD). Some MD patients with minimal-to-mild muscle symptoms may be misdiagnosed as having non-alcoholic fatty liver disease (NAFLD). Therefore, when gastroenterologists encounter patients with NAFLD/NASH, serum creatine kinase (CK) should be verified. If high serum CK levels persist in the presence of frontal baldness, a hatched face, history of cataract surgery, and grip myotonia, the possibility of MD may be considered.