An autopsy case of peliosis hepatis with X-linked myotubular myopathy
An autopsy case of peliosis hepatis with X-linked myotubular myopathy
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DOI：
10.1016/j.legalmed.2019.04.005
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发表时间：
2019-05-01
期刊：
影响因子：
1.5
通讯作者：
Takatsuka, Hisakazu
中科院分区：
文献类型：
--
作者：
Funayama, Kazuhisa;Shimizu, Hiroshi;Takatsuka, Hisakazu
本报告描述一位四岁男童的尸体解剖病例，他死于X连锁肌管性肌病引起的肝性紫癜引起的肝出血和破裂。肝黄黄病的特征是肝脏中存在多个大小不一的充满血液的空腔，这发生在慢性消耗性疾病或使用特定药物时。X连锁肌管性肌病是最严重的先天性肌病类型之一，其中受影响的男婴通常在出生后立即出现严重的张力减退和呼吸窘迫。虽然每种疾病是罕见的，12例儿童紫癜性肝炎与X连锁肌管肌病已报告，包括我们的情况。尽管发生率较低，但应将肝紫癜视为肝出血的一个原因，并且需要充分的大体和组织学检查才能正确诊断。
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.