論文

査読有り 国際誌
2019年5月

An autopsy case of peliosis hepatis with X-linked myotubular myopathy.

Legal medicine (Tokyo, Japan)
  • Kazuhisa Funayama
  • ,
  • Hiroshi Shimizu
  • ,
  • Hidetomo Tanaka
  • ,
  • Izumi Kawachi
  • ,
  • Ichizo Nishino
  • ,
  • Kou Matsui
  • ,
  • Naoya Takahashi
  • ,
  • Akihide Koyama
  • ,
  • Rieka Katsuragi-Go
  • ,
  • Ryoko Higuchi
  • ,
  • Takashi Aoyama
  • ,
  • Hiraku Watanabe
  • ,
  • Akiyoshi Kakita
  • ,
  • Hisakazu Takatsuka

38
開始ページ
77
終了ページ
82
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.legalmed.2019.04.005

This report describes the autopsy case of a 4-year-old boy who died from hepatic hemorrhage and rupture caused by peliosis hepatis with X-linked myotubular myopathy. Peliosis hepatis is characterized by multiple blood-filled cavities of various sizes in the liver, which occurs in chronic wasting disease or with the use of specific drugs. X-linked myotubular myopathy is one of the most serious types of congenital myopathies, in which an affected male infant typically presents with severe hypotonia and respiratory distress immediately after birth. Although each disorder is rare, 12 cases of pediatric peliosis hepatis associated with X-linked myotubular myopathy have been reported, including our case. Peliosis hepatis should be considered as a cause of hepatic hemorrhage despite its low incidence, and it requires adequate gross and histological investigation for correct diagnosis.

リンク情報
DOI
https://doi.org/10.1016/j.legalmed.2019.04.005
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31030121

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