Predisposition to Subdural Hemorrhage in X-Linked Myotubular Myopathy

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• 作者：Hiroshi Koga ; MD ; ^{sakuraliberty@beppu2.hosp.go.jp} ; Kenichi Miyako ; MD ; PhD ; Naohiro Suga ; MD ; PhD ; Tomoko Hidaka ; MD ; Noboru Takahashi ; MD ; PhD
• 刊名：Pediatric Neurology
• 出版年：2012
• 期刊代码：218_08878994
• 类别：med
• 出版时间：May, 2012
• 卷：46
• 期：5
• 页码：332-334
• 文件大小：369 K

摘要

X-linked myotubular myopathy is a severe congenital myopathy that can involve multiple organs. We report on a 10-month-old boy who manifested X-linked myotubular myopathy with subdural hemorrhage. The diagnosis of X-linked myotubular myopathy was based on typical muscle pathology and MTM1 missense mutation. The patient had undergone no traumatic episodes or bleeding diathesis. Axial growth acceleration is known to occur in X-linked myotubular myopathy, potentially leading to dolichocephaly. In our patient, an enlarged subdural space apparently stretched the bridging veins, increasing susceptibility to subdural hemorrhage. Patients who manifest X-linked myotubular myopathy with typical dolichocephaly are at increased risk for subdural hemorrhage.