tuberous sclerosis

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tuberous sclerosis

[′tü·bə·rəs sklə′rō·səs]
(medicine)
A familial neurocutaneous syndrome characterized in its complete form by epilepsy, adenoma sebaceum, and mental deficiency, and pathologically by nodular sclerosis of the cerebral cortex. Also known as Bourneville's disease.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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Phakomatoses most commonly implicated in chronic pediatric epilepsy include tuberous sclerosis and Sturge-Weber Syndrome (Figures 8-9).
The incidence of TS is variously reported as from 1 to 15 cases per 300,000.[1-7] Tuberous sclerosis was first described in 1862 by von Recklinghausen.[1] In 1911, Sherlock coined the term epinoia (epi stemming from "epilepsy" and anoia from "mindless").[1] Bourneville, whose name is associated with the disease, coined the term tuberous sclerosis.[1] Vogt is associated with the diagnostic triad of mental retardation, adenoma sebaceum, and epilepsy.[8] Tuberous sclerosis has traditionally been described as one of the phakomatoses or neurocutaneous syndromes.[4,8] The hallmark lesions are fibroangiomas, or tubers, that vary in size and location.
The main causes of epilepsy in children are cortical malformations (hemimegalencephaly, cortical dysplasia, lissencephaly, etc.) and phakomatoses (Tuberous sclerosis, Sturge-Weber disease, neurofibromatosis type 1, etc.), perinatal ischaemia, infections, mesial temporal sclerosis, metabolic diseases and tumours.
They may be benign, potentially isolated, sporadic lesions or they may be associated with phakomatoses. When isolated, the clinical presentation of schwannomas and neurofibromas is similar to symptoms of radicular pain and short-segment scoliosis.
NF1 is the most common of the phakomatoses. It is an autosomal dominant condition with high penetrance and abnormalities localised to the pericentrometric region of chromosome 17, with 50% having spontaneous mutants with variable expressivity.
Neurofibromatosis and other phakomatoses. In: Wilkins RH, Rengachary SS, (eds).
Tuberous sclerosis and von Hippel Lindau (vHL) disease belong to the phakomatoses, a group of neurocutaneous disorders that may have cysts in the viscera.
Neurofibromatosis type-1 (NF1) is the most common of all the phakomatoses, accounting for more than 90% of all cases, (1) and is the most frequently inherited single-gene disease in human beings.
[3] It is a sporadically occurring, frequently progressive, congenital neurocutaneous syndrome often associated with epilepsy which belongs to a group of disorders collectively known as 'Phakomatoses' or 'Mother-spot disease 'but in contrast to the other disorders (Neurofibromatosis, Tuberous sclerosis and von Hippel-Lindau disease), in this group, there is no evidence of heredity.