Medicina - Palmira

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Síndrome de Gorham Stout en un paciente joven: reporte de caso
(Universidad Santiago de Cali, 2024) Angulo Velásquez, Eider Andrés; Ayala Victoria, Fabián Santiago; Legarda Córdoba, Juan Diego; Barahona Rebolledo, Carolina (Directora)
Gorham-Stout Syndrome (GSS) is a rare bone disorder of unknown etiology, characterized by progressive osteolysis that can affect any part of the skeleton. Although there are no specific symptoms, diagnosis, or management, a severe complication is chylothorax, which occurs in 20% of patients and is associated with high mortality. This case report describes a young adult male with recurrent episodes of dyspnea initially diagnosed with chylothorax of unknown cause. Diagnostic imaging (PET and MRI) revealed osteolysis in the vertebral bodies and ribs, and evidence of a generalized lymphatic anomaly led to the final diagnosis of GSS. Given the diagnostic challenge posed by the condition and the lack of a management protocol, the patient was treated with sirolimus and zoledronic acid, achieving a good response in containing lymphatic proliferation and osteolytic progression. The case aims to disseminate the clinical and imaging characteristics to improve diagnostic suspicion and suggests a potential therapeutic avenue for future medical studies.