Iwafuchi Yohei, Umeda Maiko, Yamada Yumi, Ogasawara Masashi, Nishino Ichizo, Fujita Nobuya
Department of Neurology, Nagaoka Red Cross Hospital.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP).
Rinsho Shinkeigaku. 2021 Apr 21;61(4):243-246. doi: 10.5692/clinicalneurol.cn-001544. Epub 2021 Mar 25.
A 71-year-old woman was admitted to our hospital with type2 respiratory failure. Her daily life activities had been normal, although she had noticed mild truncal weakness in her sixties. Her parents were consanguineous, and her sister had suffered similar symptoms. Although Pompe disease was suspected on the basis of the clinical course and CT findings of selective muscular atrophy in the paraspinal, thigh flexor and sartorius muscle, acid alpha-glucosidase activity was normal. The serum creatine kinase level was not elevated, and muscle biopsy showed no specific change. Genetic analysis revealed a novel homozygous variant c.227T>C (p.Phe76Ser) in the SELENON gene, and she was suspected to have selenoprotein-related myopathy, which is reported to develop in childhood. Selenoprotein-related myopathy should be considered as a differential diagnosis in aged patients presenting with respiratory failure of unknown origin.
一名71岁女性因II型呼吸衰竭入住我院。她的日常生活活动原本正常，尽管在六十多岁时就已注意到躯干轻度无力。她的父母是近亲结婚，她的姐姐也有类似症状。尽管根据临床病程以及椎旁肌、大腿屈肌和缝匠肌选择性肌肉萎缩的CT表现怀疑为庞贝病，但酸性α-葡萄糖苷酶活性正常。血清肌酸激酶水平未升高，肌肉活检未显示特异性改变。基因分析显示SELENON基因存在一种新的纯合变异c.227T>C（p.Phe76Ser），怀疑她患有硒蛋白相关肌病，据报道该病在儿童期发病。对于不明原因呼吸衰竭的老年患者，应考虑将硒蛋白相关肌病作为鉴别诊断。
