Diagnostic Features of Tuberous Sclerosis Complex: Case Report and Literature Review

Dr. Vishnu Prasanth S, Dr. Baskar A

Abstract: Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the development of benign tumours in multiple organs, including the brain, kidneys, heart, and skin. Radiological imaging plays a crucial role in the diagnosis and management of TSC, providing insights into the extent and progression of the disease. Case Presentation: We present the case of a 17-year-old girl presented with new-onset seizures. Neuroimaging studies, including magnetic resonance imaging (MRI) of the brain, revealed multiple cortical tubers, subependymal nodules, which are characteristic radiological features of TSC. Conclusion: Radiological imaging is indispensable in the diagnosis and monitoring of tuberous sclerosis complex. Awareness of characteristic radiological findings, such as cortical tubers, subependymal nodules, and renal angiomyolipomas, is crucial for early detection and appropriate management of patients with TSC. This case underscores the importance of interdisciplinary collaboration between radiologists, neurologists, and geneticists in the comprehensive care of individuals with tuberous sclerosis complex.

Keywords: Tuberous sclerosis complex (TSC); clinical diagnostic criteria; major features; minor features; subependymal nodules (SENs); renal angiomyolipoma (AMLs); cardiac rhabdomyomas

How to Cite?: Dr. Vishnu Prasanth S, Dr. Baskar A, "Diagnostic Features of Tuberous Sclerosis Complex: Case Report and Literature Review", Volume 13 Issue 6, June 2024, International Journal of Science and Research (IJSR), Pages: 1562-1564, https://www.ijsr.net/getabstract.php?paperid=SR24623210254, DOI: https://dx.doi.org/10.21275/SR24623210254