Abstract:

We report a 5-year-old boy with X-linked myotubular myopathy complicated by peliosis hepatis. At birth, he was affected with marked generalized muscle hypotonia and weakness, which required permanent ventilatory support, and was bedridden for life. He died of acute fatal hepatic hemorrhage after using a mechanical in-exsufflator. Peliosis hepatis, defined as multiple, variable-sized, cystic blood-filled spaces through the liver parenchyma, was confirmed by autopsy. To avoid fatal hepatic hemorrhage by peliosis hepatis, routine hepatic function tests and abdominal imaging tests should be performed for patients with X-linked myotubular myopathy, especially at the time of using artificial respiration.

日本語要旨:

排痰補助装置使用後に致死性の急性肝出血を来したX連 鎖性ミオチュブラーミオパチーの一例を報告した。剖検では、肝臓紫斑病の所見が確認された。X 連鎖性ミオチュブラーミオパチーでは、肝出血を避けるべく定期的な肝機能検査と腹部イメージング検査が望まれる。