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Esclerosis tuberosa.
- Source :
-
Archivos de Neurociencias . abr-jun2012, Vol. 17 Issue 2, p132-137. 6p. 8 Black and White Photographs, 1 Chart. - Publication Year :
- 2012
-
Abstract
- The first descriptions of tuberous sclerosis were reported in 1880 by Desire Maloire Bourneville, who determinates thereafter the descriptions of the cerebral patology and the neurologic signs. It was until the beginnings of the XX century that were aquisited more imagine and clinic information about the tuberous sclerosis. The association of cerebral, renal, cardiac and dermatologic damages was recognized in 1905, making that way the Vogt triads, that consists of epilepsy, cognitive alterations and behavior changes. They generate cerebral disorders like cortical tubers, subependimarious nodules, subependimarious astrocytoms and white substance anomalies. The tuberous sclerosis is a genetic disease, with defects in the production of hamartin (TSC1) in the locus of chromosome 9, and of tuberin (TSC9) in the locus of chromosome 16. The hamartin and tuberin have an inhibitor effect in the growing cells. We reported 3 cases with tuberous sclerosis, a 7 years boy who has uniquely sebaceous adenoms and subependimaria astrocytoma, a 31 years old woman who presents sebaceous adenoms, large evolution seizures and subepedimarious astrocytoma, and 35 year old man who presents seizures, sebaceous adenom and psychomotor deficit. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SYMPTOMS
*TUBEROUS sclerosis
*GENETICS
Subjects
Details
- Language :
- Spanish
- ISSN :
- 10285938
- Volume :
- 17
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Archivos de Neurociencias
- Publication Type :
- Academic Journal
- Accession number :
- 88935204