A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 86-91, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-164766
ABSTRACT
Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. Children with Miller-Dieker syndrome have profound psychomotor retardation, seizures that often are intractable, chronic feeding problems that lead to recurrent pneumonia, and shortened lifespan. We have experienced a Miller-Dieker syndrome female who has lived to 8years, showing severe mental and motor retardation and intractable epilepsy. She was diagnosed as Miller-Dieker syndrome in the neonatal period, showing typical facial features, type 1 lissencephaly, and chromosome 17p13.3 microdeletion in fluorescence in situ hybridization. Infantile spasm occurred at 4 months of age and progressed to Lennox-Gastaut syndrome at 3 years and 6 months, both of which were not controlled by antiepileptic drugs.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pneumonia
/
Convulsões
/
Espasmos Infantis
/
Hibridização In Situ
/
Deleção de Genes
/
Anormalidades Craniofaciais
/
Epilepsia
/
Lisencefalia
/
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
/
Fluorescência
Limite:
Criança
/
Feminino
/
Humanos
/
Lactente
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS