A Case of Angelman Syndrome with Left Hemicortical Atrophy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 377-384, 2003.
Artículo
en Coreano
| WPRIM
| ID: wpr-107757
ABSTRACT
Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Atrofia
/
Convulsiones
/
Estado Epiléptico
/
Síndrome de Angelman
/
Diagnóstico Diferencial
/
Electroencefalografía
/
Epilepsia
/
Marcha
/
Trastornos del Desarrollo del Lenguaje
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2003
Tipo del documento:
Artículo
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