Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy

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

作者机构：Department of Metabolic RegulationShinshu University School of MedicineMatsumoto 390-8621Japan Department of GastroenterologyShinshu University School of MedicineMatsumoto 390-8621Japan Digestive Disease CenterShowa Inan General HospitalKomagane 399-4117Japan Department of PathologyIida Municipal HospitalIida 395-8502Japan 

出 版 物：《World Journal of Hepatology》 (世界肝病学杂志（英文版）（电子版）)

年 卷 期：2020年第12卷第9期

页      面：685-692页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：Non-alcoholic fatty liver disease Non-alcoholic steatohepatitis Frontal baldness Cataract Creatine kinase 

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.