Case Report of Tuberous Sclerosis

Ishan Sharma, Malvika Shitak, Shruti Thakur

Abstract: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including benign hamartomatous tumors in multiple organs. Also known as Bourneville disease, named after D?sir? - Magloire Bourneville, the French physician who discovered the potatolike appearance of cortical lesions in the brains of patients with this condition [1], tuberous sclerosis is the second most common phakomatosis behind neurofibromatosis type 1. It has a prevalence estimated to be 1 in 6000 with approximately 1.5 million people affected worldwide [2]. The diagnosis of tuberous sclerosis carries a variable prognosis depending on the severity of symptoms. However, mortality can be as high as 40% by age 35 [3].

Keywords: Tuberous Sclerosis