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

•Peliosis hepatis and X-linked myotubular myopathy (XLMTM) are both rare diseases.•We report an autopsy case of peliosis hepatis with XLMTM.•4-Year-old boy affected by XLMTM died from multiple hepatic hemorrhage.•The autopsy revealed that peliosis hepatis had induced fetal bleeding.•12 cases of peliosis hepatis with XLMTM have been reported including this case. 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.