Diagnosis and Management of Tuberous Sclerosis Complex in a Resource-Limited Setting—A Case Report of a 14-Year-Old Female Zambian Adolescent

Abstract

Tuberous sclerosis complex (TSC) is a rare multisystemic neurocutaneous syndrome with a wide spectrum of clinical manifestations. We present a case of a 14-year-old adolescent female who presented with a history of facial angiofibromas since the age of 8 months. Physical examination was remarkable for multiple angiofibromas on the face, and other multiple cutaneous manifestations of TSC. MRI of the head, and abdomen revealed cortical tubers, multiple bilateral periventricular and subependymal nodular lesions, calcifications, and bilateral kidney enlargement with multiple bilateral renal angiomyolipomas of varying sizes in a background of bilateral polycystic kidneys, MRI of the chest was unremarkable. A diagnosis of TSC was made using the clinical diagnostic criteria which consist of major and minor features. A diagnosis using genetic studies could not be made due to a lack of resources. Management was multidisciplinary and regular monitoring every 6 months will be required to monitor disease progression and manage complications as they arise. This case illustrates the multidisciplinary approach needed to address the diverse clinical manifestations of TSC and the diagnostic challenges, treatment limitations, and psychological impact of TSC in low-resource settings like Zambia where access to advanced therapies is limited.