Challenges in the Diagnosis and Care of Tuberous Sclerosis Complex in Resource-Limited Settings: A Case Report from Tanzania

Abstract

Introduction: Tuberous sclerosis complex (TSC) is a rare, multisystem genetic disorder caused by mutations in the TSC1 or TSC2 genes, resulting in dysregulation of the mTOR pathway. Clinical manifestations include epilepsy, cutaneous lesions, and hamartomas in various organs, presenting diagnostic challenges, especially in resource-limited settings. In low- and middle-income countries (LMICs), barriers such as lack of access to genetic testing, advanced imaging, and targeted therapies contribute to underdiagnosis and delayed care. Case Presentation: We present a 22-year-old male from rural Tanzania with a 20-year history of intractable, treatment-refractory epilepsy. He also exhibited cutaneous findings, including facial angiofibromas, ash-leaf macules, and a shagreen patch. Brain imaging revealed subependymal nodules, and renal imaging identified angiomyolipomas. Despite the absence of genetic testing, a clinical diagnosis of TSC was made. The patient's condition was further complicated by aspiration pneumonia. Management included anticonvulsant therapy, antibiotics, and supportive care. Multisystem evaluation revealed cystic lung disease and renal involvement, underscoring the need for comprehensive follow-up. This case highlights the diagnostic reliance on clinical expertise and basic imaging in resource-limited settings. Conclusion: This report emphasizes the importance of clinical recognition and multidisciplinary management of TSC in resource-constrained settings. Strengthening healthcare infrastructure, raising awareness, and fostering collaborations to enhance access to genetic testing and mTOR-targeted therapies are critical to improving outcomes for TSC patients in LMICs. The lessons from this case underscore the global relevance of addressing healthcare disparities in rare genetic disorders.