A Case of Neurofibromatosis Type 1 with Cortical Dysplasia / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 276-281, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-96605
ABSTRACT
Neurofibromatosis type 1(NF1) is the most common neurocutaneous syndrome which has an autosomal dominant pattern of inheritance. The NF1 gene is located on chromosome 17q11.2 and encodes for neurofibromin known as tumor suppressor protein. The disorder affects almost every organ and shows neurologic manifestations such as tumors, mental retardation and epilepsy. Epilepsy associated with NF1 occurs in about 4% and is known to have relatively good prognosis. Malformations of cortical development are less common in patients with NF1 than in other phakomatoses. To our knowledge, no report on NF1 with cortical dysplasia has been published in Korea. We report a child with NF1 associated with extensive cortical dysplasia, who presented initially infantile spasms and in the following months developed tonic seizures.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Prognóstico
/
Convulsões
/
Espasmos Infantis
/
Testamentos
/
Genes da Neurofibromatose 1
/
Neurofibromatose 1
/
Neurofibromatoses
/
Síndromes Neurocutâneas
/
Neurofibromina 1
/
Epilepsia
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
/
Lactente
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2005
Tipo de documento:
Artigo
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