Also discussed is nindsfunded research to increase scientific understanding of tuberous sclerosis. En ningun caso, sustituye a una evaluacion individual. Please use one of the following formats to cite this article in your essay, paper or report. Cerebellar lesions are associated with tsc2 mutations in. Although several prior studies have characterized these lesions, our study provides the first description of the specific distribution of these lesions within the cerebellum and the first genotypephenotype correlation yet to be published. Angiomiolipomas renales asociados al complejo esclerosis tuberosa.
Pdf on may 1, 2016, alfons macaya and others published. Tuberous sclerosis is a multisystem disorder that presents an. Mg 41 b enero junio 2017 complejo esclerosis tuberosa. Caso clinico case report complejo esclerosis tuberosa. Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. This publication provides an overview of tuberous sclerosis, including common symptoms, diagnosis, and available therapies. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.
1269 1116 1027 1350 288 290 836 681 323 1020 1216 1188 388 1468 1167 1084 281 99 163 1220 1023 778 676 1422 791 689 177 8 204 555 1035 770 209