Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Sep 27, 2020; 12(9): 685-692
Published online Sep 27, 2020. doi: 10.4254/wjh.v12.i9.685
Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy
Naoki Tanaka, Takefumi Kimura, Naoyuki Fujimori, Yasuyuki Ichise, Kenji Sano, Akira Horiuchi
Naoki Tanaka, Department of Metabolic Regulation, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
Takefumi Kimura, Naoyuki Fujimori, Department of Gastroenterology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
Yasuyuki Ichise, Akira Horiuchi, Digestive Disease Center, Showa Inan General Hospital, Komagane 399-4117, Japan
Kenji Sano, Department of Pathology, Iida Municipal Hospital, Iida 395-8502, Japan
Author contributions: Tanaka N, Kimura T, and Ichise Y were the patient’s physicians, reviewed the literature, and contributed to manuscript drafting; Sano K performed pathological interpretation and contributed to manuscript drafting; Fujimori N and Horiuchi A supervised the manuscript; all authors approved submission of the final version.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Naoki Tanaka, MD, PhD, Associate Professor, Department of Metabolic Regulation, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. naopi@shinshu-u.ac.jp
Received: April 22, 2020
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
Abstract
BACKGROUND

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).

CASE SUMMARY

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.

CONCLUSION

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.

Keywords: Non-alcoholic fatty liver disease, Non-alcoholic steatohepatitis, Frontal baldness, Cataract, Creatine kinase

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.