Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report

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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Journal
Molecular Genetics and Metabolism Reports
Published
2026-09-22
DOI
https://doi.org/10.1016/j.ymgmr.2026.101361
Primary Topic
Bone fractures and treatments
Type
article
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article

Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report

R. Montero-Yéboles, B. Guzman-Morais, L. Tarongi-Marco, A. Barrés-Fernández et al.
Molecular Genetics and Metabolism Reports
Bone fractures and treatments
article

Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report

R. Montero-Yéboles, B. Guzman-Morais, L. Tarongi-Marco, A. Barrés-Fernández, J.L. López-Prats, P. Roselló-Millet
article en

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.

Molecular Genetics and Metabolism ReportsVol. 49
Universitat de València (ES), Hospital Clínico Universitario de Valencia (ES)
Good health and well-being
Openalex Percentile: Top 10%
Bone fractures and treatments
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