Clinical Findings of Menkes Disease and the Treatment of Epilepsy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 109-112, 2018.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-728855
Biblioteca responsável:
WPRO
ABSTRACT
Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Artérias
/
Convulsões
/
Piscadela
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Doenças Neurodegenerativas
/
Desnutrição
/
Eletroencefalografia
/
Epilepsia
/
Cabelo
Tipo de estudo:
Estudo diagnóstico
Aspecto:
Determinantes sociais da saúde
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2018
Tipo de documento:
Artigo