AI Article Synopsis
- - This report discusses the autopsy of a 4-year-old boy who died from liver hemorrhage due to peliosis hepatis linked to X-linked myotubular myopathy, a severe congenital muscle disorder.
- - Peliosis hepatis involves the formation of blood-filled cavities in the liver and is often seen in chronic diseases or drug use; it is quite rare but can have serious consequences.
- - Twelve pediatric cases of peliosis hepatis associated with X-linked myotubular myopathy have been documented, emphasizing the need for thorough examination to accurately diagnose this condition despite its rarity.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.legalmed.2019.04.005 | DOI Listing |
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