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article · Medical Journal of Zambia

Tuberous Sclerosis Complex Presenting with Status Epilepticus: A Case Report on Diagnostic and Management Challenges in a Resource-Limited Setting

Abstract

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.

Research topics

  • Tuberous Sclerosis Complex Research

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DOI: 10.55320/mjz.52.3.667

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