Tanaka Naoki, Kimura Takefumi, Fujimori Naoyuki, Ichise Yasuyuki, Sano Kenji, Horiuchi Akira
Department of Metabolic Regulation, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Department of Gastroenterology, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
World J Hepatol. 2020 Sep 27;12(9):685-692. doi: 10.4254/wjh.v12.i9.685.
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/m. 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.
强直性肌营养不良（MD）有时会伴有代谢/内分泌紊乱，包括血脂异常、中心性肥胖和性腺功能减退。由于肌病的严重程度和进展存在相当大的个体差异，轻度至中度肌肉症状的MD患者可能会被误诊为患有其他疾病，如非酒精性脂肪性肝病（NAFLD）。
一名40岁非肥胖男性，无定期饮酒史，因持续性肝功能不全和高脂血症转诊至我院。他的体重指数为23.4kg/m²。肝脏组织学检查显示大泡性脂肪变性、气球样肝细胞伴嗜酸性包涵体以及窦周纤维化，诊断为非酒精性脂肪性肝炎（NASH）。尽管他没有明显的肌肉疼痛或无力，但血清肌酸激酶（CK）和肌红蛋白水平持续升高，以及存在额部秃发、斧形脸、白内障手术史和握力性肌强直，提示可能患有MD。对患者的DNA进行Southern印迹分析发现存在CTG重复序列，从而确诊。
当胃肠病学家遇到NAFLD/NASH患者时，应检查血清CK。如果发现高CK血症、额部秃发、斧形脸、白内障手术史和握力性肌强直，可能需要考虑MD的可能性。
