Tuberous Sclerosis : Case Report

DiscussionTuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Also known as Bourneville disease, named after D ésiré-Magloire Bourneville, the French physician who discovered the potato like appearance of cortical lesions in the brains of patients with this condition.Tuberous sclerosis is the second most common phakomatosis behind neurofibromatosis type 1. It has a prevalence estimated to be 1 in 6000. App roximately one third of cases of tuberous sclerosis are familial the other two thirds of cases are sporadic and due to spontaneous mutations.Classic triad first described by Heinrich Vogt in 1908 consists of facial angiofibromas, seizures, and mental retardation is present in only 30 –40% of patients. Facial angiofibromas are present 75% of the time, seizures as much as 90% of the time, and mental retardation in approximately 50% of all patients. Tuberous sclerosis is usually diagnosed in infancy or early childhood because child presents with seizures, developmental delay or h ypomelanotic macules. The diagnosis of tuberous sclerosis can be made earlier or later on the basis of other features that manifest themselves at other ages. Cortical tubers and cardiac rhabdomyomas can be detected prenatally and in infancy, whereas renal, pulmonary, and osseous lesions are identified more commonly in adulthood.Genetic diagnostic criteria- The identification of either a TSC1 or TSC2 pa...
Source: Sumer's Radiology Site - Category: Radiology Authors: Source Type: blogs