Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication
Michele Tosi1, Michela Catteruccia1, Nicoletta Cantarutti2
1Unit of Muscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital.
Introduction:
Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even minor trauma can result in FES, owing to long-standing osteoporosis and prolonged corticosteroid therapy, and the recognition can be challenging.
Materials And Methods:
We report a case series of three non-ambulatory patients with DMD who developed fat embolism syndrome following traumatic events. Clinical presentation, diagnostic challenges, and management strategies were retrospectively analyzed.
Results:
All three patients presented with features consistent with FES, with diagnostic difficulties related to atypical mechanisms of injury and overlapping neuromuscular symptoms. Timely supportive management led to favorable clinical outcomes in all cases.
Discussion:
These cases illustrate the critical need to closely consider FES in DMD patients who experience unexplained respiratory or neurological decline following trauma.
Conclusion:
Prompt recognition and a multidisciplinary approach are critical to minimizing morbidity and supporting recovery.
Related Concept Videos
Pulmonary Embolism I: Introduction
Satellite Stem Cells and Muscular Dystrophy
Cardiomyopathy II: Dilated Cardiomyopathy
Pulmonary Embolism III: Nursing Management
Pulmonary Embolism II: Diagnostic Studies and Interprofessional Care
Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...


