Tuberous sclerosis: a case study on clinical manifestations and therapeutic approaches

This is a case report of a patient with tuberous sclerosis who has been followed since the age of 8 months. An ophthalmological examination revealed left eyelid ptosis and a lesion consistent with retinal astrocytoma. Imaging studies, including magnetic resonance imaging and computed tomography, demonstrated multiple abnormalities such as cortical-subcortical lesions, subependymal nodules, callosal dysgenesis, and probable renal cysts. The patient also presented with refractory epilepsy, developmental delay, and frequent seizures. Correlating the clinical and radiological findings with the presence of major and minor diagnostic criteria for tuberous sclerosis enabled the diagnosis to be established.

Keywords:
Tuberous sclerosis; Magnetic resonance imaging; Computed Tomography, X-ray