A Case of Neurofibromatosis Type 1 with Cortical Dysplasia / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 276-281, 2005.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Convulsiones
/
Espasmos Infantiles
/
Testamentos
/
Genes de Neurofibromatosis 1
/
Neurofibromatosis 1
/
Neurofibromatosis
/
Síndromes Neurocutáneos
/
Neurofibromina 1
/
Epilepsia
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Humanos
/
Lactante
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2005
Tipo del documento:
Artículo
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