Intermittent convulsions for 1.5 years and psychomotor retardation in a girl / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 73-76, 2017.
Article
em Zh
| WPRIM
| ID: wpr-351398
Biblioteca responsável:
WPRO
ABSTRACT
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.
Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Transtornos Psicomotores
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Convulsões
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Aldeído Desidrogenase
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Epilepsia
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Genética
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Mutação
Limite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Article