2025/08/17 by Kukreja, R, Mital, M, Gupta, Prashant K +1
#Hypomelanotic macules #rhabdomyoma #tuberous sclerosis #tubers
paper · doi:10.82235/wajr.vol24no1.345
Introduction: Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant disorder characterized by a variety of hamartomatous lesions in various organs. The diagnosis is usually established on the basis of diagnostic criteria related to clinical and/or radiologic findings. Since the classical Vogt triad of seizures, mental retardation, and adenoma sebaceum are seen in only a minority of cases, radiology plays an important role in diagnosis of the disease. The aim of the study is to evaluate the clinico-radiological pattern in this disease. Materials and Methods: A clinical and radiological evaluation of 4 cases of suspected TSC was conducted within a period of 18 months. Results: All the four patients were below 25 years of age. Two patients were female and two were male. All the 4 patients had a history of seizures, while 2 also had mental retardation. One patient had hypomelanotic macules. On imaging, all the 4 patients showed neurological involvement in the form of cortical tubers, subependymal nodules, and white matter abnormalities while only one patient showed radial migration lines. One patient additionally showed the presence of cardiac rhabdomyoma. Conclusion: In addition to clinical examination, imaging plays a very important role in identifying the abnormalities of TSC and other additional features.