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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.