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Fatal Fat Embolism Syndrome Without Recognized Fracture in Patients With Duchenne Muscular Dystrophy: Two Case Reports

AI Summary
  • Fatal fat embolism syndrome can occur in Duchenne muscular dystrophy patients without clinically recognised trauma or fracture.
  • Two cases: a 7-year-old boy and a 23-year-old man experienced sudden collapse or respiratory failure without preceding injury.
  • Autopsy demonstrated extensive fat emboli in the microvasculature of multiple organs, emphasising FES risk in DMD even without apparent injury.
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Pediatr Neurol. 2026 May 14;181:51-55. doi: 10.1016/j.pediatrneurol.2026.05.007. Online ahead of print.

ABSTRACT

BACKGROUND: Fat embolism syndrome (FES) is an uncommon cause of sudden death in patients with Duchenne muscular dystrophy (DMD), typically following identifiable fractures.

METHODS: We present two cases of sudden fatal FES in the setting of DMD without clinically recognized trauma or fracture. The first was a 7-year-old boy who had autism spectrum disorder and who also had sudden death after collapsing at home following a walk with no recognized trauma. The second was a 23-year-old man who developed sudden respiratory failure without preceding illness or injury that progressed to shock and subsequent death.

RESULTS: Autopsy in both cases revealed extensive fat emboli in the microvasculature in multiple organs.

CONCLUSIONS: These cases underscore the risk of FES in patients with DMD without apparent preceding injury.

PMID:42224920 | DOI:10.1016/j.pediatrneurol.2026.05.007

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