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

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.

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Publication Details

Journal
Medical Journal of Zambia
Published
2025-06-02
DOI
https://doi.org/10.55320/mjz.52.3.667
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
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article

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

Sepiso K. Masenga, Benson M. Hamooya, Michelo Miyoba, Chanda Kapoma et al.
Medical Journal of Zambia
Tuberous Sclerosis Complex Research
article

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

Sepiso K. Masenga, Benson M. Hamooya, Michelo Miyoba, Chanda Kapoma, Malan Malumani, Lukundo Siame, Mutinta Phiri, Cheryl-Joan Kashitala, Angela Rumbidzai Dzoro, Tedson Mwanza
article en

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.

Medical Journal of ZambiaVol. 52(3)
Livingstone Hospital (ZA), University Teaching Hospital (ZM), Mulungushi University (ZM), University of Zambia (ZM)
Openalex Percentile: Top 65%
Tuberous Sclerosis Complex Research
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