Case Report of Tuberous Sclerosis
Journal: International Journal of Science and Research (IJSR) (Vol.11, No. 6)Publication Date: 2022-06-05
Authors : Ishan Sharma; Malvika Shitak; Shruti Thakur;
Page : 1250-1252
Keywords : Tuberous Sclerosis;
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].
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Last modified: 2022-09-07 15:17:07