11 | A case of fatal fat embolism in traumatized child with Duchenne dystrophy

Background. Fat Embolism Syndrome (FES) is a rare but potentially fatal complication in patients with Duchenne Muscular Dystrophy (DMD), particularly after long bone fractures. DMD patients are predisposed to osteoporosis and traumatic fractures due to chronic corticosteroid therapy, loss of ambulation, and obesity. Clinical diagnosis of FES remains challenging, as radiological findings are often inconclusive and treatment is mainly supportive. We describe a case of a child with DMD who developed fatal FES after low-energy trauma.

Methods. We describe the clinical course of a 13-year-old boy with genetically confirmed DMD who was admitted to our Intensive Care Unit following a wheelchair fall that caused femoral and tibial fractures. Clinical data, laboratory findings, imaging studies, and therapeutic interventions were analyzed. Diagnostic criteria were compared with Gurd’s major and minor signs.

Results. The patient presented with rapid neurological deterioration and hypoxemia shortly after trauma. Initial CT imaging was unremarkable, but MRI revealed multiple microembolic ischemic lesions in basal ganglia and cortical territories. Laboratory evaluation demonstrated anemia, thrombocytopenia, elevated D-dimer, and high troponin levels. Clinical progression was characterized by petechial rash, worsening respiratory failure, and hemodynamic instability requiring mechanical ventilation and vasoactive support. Despite aggressive treatment with protective ventilation, corticosteroids, anticoagulation, osmotherapy, and orthopedic stabilization, the patient developed cerebral edema, fixed mydriasis, and eventually cardiogenic shock leading to death within four days.  Post-mortem examination was arranged to confirm fat embolism.

Conclusions. This case highlights the diagnostic and therapeutic challenges of FES in pediatric DMD patients. The combination of multiple long bone fractures, rapid neurological decline, petechiae, and respiratory compromise strongly supported the diagnosis. Preventive strategies, including careful patient handling, fracture stabilization, and cautious fluid management, remain crucial as therapeutic options are limited and largely supportive. Clinicians should maintain a high index of suspicion for FES in DMD patients with fractures, as delayed recognition may contribute to poor outcomes. Further studies are required to evaluate preventive measures and potential pharmacological interventions such as corticosteroids, statins, or albumin therapy.