International symposium of education for forensic medicine INDEX
ホームInternational symposium of education for forensic medicine第3回>Part I-1

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

Kazuhisa Funayama1,2), Hiroshi Shimizu3), Hidetomo Tanaka3), Izumi Kawachi4), Naoya Takahashi2,5), Akihide Koyama1,2), Rieka Katsuragi-Go2), Takashi Aoyama1), Taku Watanabe1), Akiyoshi Kakita3), Hisakazu Takatsuka1,2)

1) Division of Legal Medicine, Department of Community Preventive Medicine, Graduate School of Medicine and Dental Sciences, Niigata University, Niigata, Japan
2) Center of Cause of Death Investigation, Faculty of Medicine, Niigata University, Niigata, Japan
3) Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan
4) Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan
5) Department of Radiological Technology, Graduate School of Health Sciences, Niigata University, Niigata, Japan

We report an autopsy case of 4-year-old boy who died from intra-abdominal hemorrhage caused by peliosis hepatis with X-linked myotubular myopathy (XLMTM). He had been administered artificial ventilation to, went into cardiopulmonary arrest after bathing in the day care center. Cardiopulmonary resuscitation was immediately performed by the nurse, and he was transferred to the hospital. Although the spontaneous circulation returned, he was developed hypovolemic shock and anemia with the slightly low density area in the lateral segment of the left hepatic lobe showed by plain abdominal CT. In spite of blood transfusion, hypovolemic shock and anemia were exacerbated by intra-abdominal hemorrhage, He died on day 7 of hospitalization. Postmortem CT which performed 4 hours after death revealed the mosaic high and low density area in the whole liver. A judicial autopsy was performed 2 days after death for the purpose of searching for the cause of intra-abdominal bleeding. The deceased was 108cm tall (+2SD) and weighed 19.96kg (+2SD). 1435 ml bleeding containing blood clot in the abdominal cavity, multifocal hemorrhages of various sizes in the liver parenchyma were observed. The maximum hemorrhage in the lateral segment teared the liver capsule and prolapsed into the abdominal cavity. Other organs generally showed anemic change. Histologically, small amount of hepatocyte in the portal area and centrilobular hepatocyte necrosis with fatty change was observed. The brain presented diffuse ischemic change and the skeletal muscle fibers were small and rounded with centrally located nuclei and peripheral halo was observed in most fibers, the latter is characteristic of XLMTM. We judged that the cause of death was massive hepatic hemorrhage induced by peliosis hepatis with XLMTM. XLMTM is one of the most serious type of congenital myopathy, rarely occurs in male (estimated to be 1 in 50,000 newborn males) with severe muscle weakness and respiratory failure from birth. Therefore, most of XLMTM patients died within the first year of life, however, the improvement of respiratory and nutrition management has recently brought about prolonging survival, consequently some organ complications, including peliosis hepatis has reported with XLMTM.

  • The 3rd international symposium of the Education Center for Forensic Pathology and Science
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