title: Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: a case report.
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.
authors.affiliation: Department of Pediatrics, Uwajima City Hospital, Uwajima, Ehime, Japan. Electronic address: tmotoki@m.ehime-u.ac.jp.
authors.forename: T
authors.initials: T
authors.lastname: Motoki
authors.forename: M
authors.initials: M
authors.lastname: Fukuda
authors.forename: T
authors.initials: T
authors.lastname: Nakano
authors.forename: S
authors.initials: S
authors.lastname: Matsukage
authors.forename: A
authors.initials: A
authors.lastname: Fukui
authors.forename: S
authors.initials: S
authors.lastname: Akiyoshi
authors.forename: Y K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: E
authors.initials: E
authors.lastname: Ishii
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D007327:Insufflation / Q000009:adverse effects*; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D010382:Peliosis Hepatis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D011859:Radiography
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin
keywords: Hepatic hemorrhage; Mechanical in-exsufflator; Peliosis hepatis; X-linked myotubular myopathy