ArticleMolecular genetics and metabolism reports2026
Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report.
Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background Fat embolism syndrome (FES) is a rare but potentially life-threatening complication classically associated with long-bone fractures and orthopedic procedures. Patients with Duchenne muscular dystrophy (DMD) are at increased risk because of severe osteoporosis, chronic corticosteroid therapy, loss of ambulation, and fatty bone marrow replacement. However, FES remains underrecognized in this population, particularly when triggered by minor trauma without radiographic evidence of fracture. Case Presentation We report the case of a 12-year-old boy with DMD receiving long-term corticosteroid therapy who developed severe FES following a low energy fall. Twenty-four hours after the trauma, he presented with respiratory failure, encephalopathy, petechial rash, thrombocytopenia, and markedly elevated D-dimer levels. Initial computed tomography studies were unremarkable. Brain magnetic resonance imaging demonstrated multiple acute ischemic lesions involving the bilateral centrum semiovale, watershed territories, basal ganglia, thalami, and cerebellum, consistent with the characteristic "starfield" pattern of cerebral fat embolism. The patient also developed acute pulmonary hypertension and right ventricular dysfunction requiring vasoactive support. Intensive supportive treatment, including non-invasive ventilation and hemodynamic support, resulted in progressive clinical improvement with complete neurological recovery. Conclusion This case highlights the extreme susceptibility of patients with DMD to develop severe FES after seemingly trivial trauma, even in the absence of radiographically evident fractures. Early recognition of the characteristic clinical syndrome and prompt neuroimaging are essential for timely diagnosis and appropriate supportive management. Clinicians caring for patients with DMD should maintain a high index of suspicion for FES when respiratory or neurological deterioration occurs after minor injury.
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