Forensic Sci Med Pathol. 2026 May 26. doi: 10.1007/s12024-026-01278-7. Online ahead of print.
ABSTRACT
A 10-year-old cachectic boy who was delivered at 29 weeks' gestation following an uneventful first pregnancy was diagnosed with laminin subunit alpha-2 (LAMA2)-related (merosin deficient) congenital muscular dystrophy at the age of 5 years. A week before his last hospitalization, he was treated with antibiotics for respiratory infection. A day before his death, he vomited and was visibly irritable. He collapsed during rehabilitation treatment and became unresponsive. He did not sustain any injuries. The patient presented to the hospital with tachycardia, elevated cardiac enzymes, and respiratory insufficiency. Computed tomography of the brain revealed irregular hypodense areas in the supratentorial region and the lungs showed ground glass opacity. He required mechanical ventilation and high doses of vasopressors. The patient died 12 h after admission due to circulatory collapse. Postmortem histologic examination revealed skeletal muscle and myocardial degeneration, and multiorgan fat embolism involving the lungs, heart, kidneys and brain. Death was attributed to cardiovascular collapse due to heart failure associated with a genetically determined muscle disease with unexplained fat embolism syndrome.
PMID:42189382 | DOI:10.1007/s12024-026-01278-7