Case report reveals diagnostic challenges and management in a young patient with tuberous sclerosis complex, emphasizing multidisciplinary care.
Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by a diverse range of clinical manifestations and diagnostic challenges, particularly in resource-limited settings. We present a 13-year-old male patient with refractory seizures, developmental delays, angiofibromas, renal involvement, and malnutrition. The patient had been misdiagnosed with isolated epilepsy and malnutrition during prior hospital visits, delaying appropriate intervention. Despite limited access to advanced diagnostics, clinical evaluation and characteristic dermatological findings confirmed TSC. This case underscores the importance of early recognition, multidisciplinary care, and improved healthcare access to optimize patient outcomes.
No takes yet. Share an insight, caveat, or question.
Kashitala et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: