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Spécificités de la sclérose tubéreuse de Bourneville chez l’enfant
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- Author(s): Riquet, A.1 ; Cuisset, J.-M.1; Cuvellier, J.-C.1; Joriot, S.1; Petit, F.2; Vallée, L.1
- Source:
Archives de Pédiatrie. Sep2010, Vol. 17 Issue 9, p1338-1345. 8p.- Subject Terms:
- Source:
- Additional Information
- Alternate Title: Characteristics of tuberous sclerosis in children
- Abstract: Summary: Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin–tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The clinical presentation is highly variable and most features of tuberous sclerosis become evident only in childhood after the child is several years of age, limiting their usefulness for early diagnosis. The aim of this article is to define the pediatric clinical manifestations of tuberous sclerosis in correlation with patient age. Sometimes, a prenatal diagnosis can be made based on fetal ultrasound and MRI, which show cardiac and brain lesions. However, newborns are most often asymptomatic. In the 1st year, seizures are the most common symptoms, with a high incidence of infantile spasms. In children between 2 and 10 years of age, neurological symptoms are the most frequent with epilepsy, mental retardation, and autism, but extraneurological manifestations can be diagnosed. In adolescents, most features of tuberous sclerosis become evident and renal and pulmonary manifestations must be sought. The knowledge of age-dependent clinical features of tuberous sclerosis can provide an earlier diagnosis and improve the management of these patients with a special role for multidisciplinary consultation. [ABSTRACT FROM AUTHOR]
- Abstract: Résumé: La sclérose tubéreuse de Bourneville (STB) est une maladie génétique d’expression multisystémique causée par une mutation des gènes de la sclérose tubéreuse (TSC1 ou TSC2). En pédiatrie, l’expression clinique de la maladie est très liée à l’âge de l’enfant. Le but de l’article est de préciser les manifestations rencontrées en période ante- ou périnatale ainsi que les formes cliniques du nourrisson, de l’enfant et de l’adolescent. En période ante- ou périnatale seules les atteintes cardiaques ou cérébrales peuvent être détectées. Les formes cliniques du nourrisson sont dominées par la survenue d’une épilepsie précoce de type syndrome de West. Chez l’enfant de 2 à 10 ans, l’expression neurologique reste au premier plan (épilepsie, déficience intellectuelle, autisme) mais il faut également s’attacher à repérer les atteintes extraneurologiques. Les formes de l’adolescent se rapprochent de celles de l’adulte imposant la recherche d’une éventuelle atteinte rénale ou pulmonaire (chez la fille uniquement) parallèlement au suivi neurologique. La connaissance des spécificités de la maladie propres à chaque tranche d’âge permet un diagnostic précoce et une prise en charge optimale de ces patients et de leur famille, avec une place particulière pour la consultation multidisciplinaire.
- Abstract:
Copyright of Archives de Pédiatrie is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) - Abstract:
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