A Case of Neurofibromatosis Type 1 with Cortical Dysplasia / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 276-281, 2005.
Article
de Ko
| WPRIM
| ID: wpr-96605
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pronostic
/
Crises épileptiques
/
Spasmes infantiles
/
Testaments
/
Gènes nf1
/
Neurofibromatose de type 1
/
Neurofibromatoses
/
Syndromes neurocutanés
/
Neurofibromine-1
/
Épilepsie
Type d'étude:
Prognostic_studies
Limites du sujet:
Child
/
Humans
/
Infant
/
Newborn
Pays comme sujet:
Asia
langue:
Ko
Texte intégral:
Journal of the Korean Child Neurology Society
Année:
2005
Type:
Article