Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy  

作　　者：Naoki Tanaka Takefumi Kimura Naoyuki Fujimori Yasuyuki Ichise Kenji Sano Akira Horiuchi 

机构地区：[1]Department of Metabolic Regulation,Shinshu University School of Medicine,Matsumoto 390-8621,Japan [2]Department of Gastroenterology,Shinshu University School of Medicine,Matsumoto 390-8621,Japan [3]Digestive Disease Center,Showa Inan General Hospital,Komagane 399-4117,Japan [4]Department of Pathology,Iida Municipal Hospital,Iida 395-8502,Japan

出　　处：《World Journal of Hepatology》2020年第9期685-692,共8页世界肝病学杂志（英文版）（电子版）

摘　　要：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 nonalcoholic 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.

关 键 词：Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Frontal baldness CATARACT Creatine kinase 

分 类 号：R746.2[医药卫生—神经病学与精神病学]