一例盖综合征患者伴镶边空泡的远端肌病。

Distal myopathy with rimmed vacuoles in a case of opercular syndrome.

作者信息

Toriumi Yoshitaka, Takusa Yuichi, Uchiyama Atsushi, Kimura Masahiko, Sejima Hitoshi, Yamaguchi Seiji, Eda Isematsu, Nishino Ichizo, Nonaka Ikuya

机构信息

Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan.

出版信息

Brain Dev. 2006 Aug;28(7):458-61. doi: 10.1016/j.braindev.2005.12.005. Epub 2006 Feb 28.

DOI:10.1016/j.braindev.2005.12.005

PMID:16503389

Abstract

We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.

摘要

我们报告了一例患有脑岛综合征的30岁男性，其出现了伴有镶边空泡的远端肌病（DMRV）。肌肉活检显示肌纤维大小不一，并有散在的伴有镶边空泡的肌纤维。在GNE基因中鉴定出纯合的c.1714G>C（p.V572L）突变，从基因层面确诊了DMRV，该病被认为与遗传性包涵体肌病（HIBM）相同。我们的结果表明，在DMRV/HIBM中，中枢神经系统等其他器官可能会受到影响，尽管双侧脑岛病变可能是由子宫内或围生期的破坏性事件引起的。