An inborn error of metabolism presenting as hypoxic-ischemic insult.
Pediatr Neurol
; 32(2): 134-6, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15664777
ABSTRACT
This case report profiles two children whose sole presentation is intractable seizures. The index case is a 1-year-old female. She presented to the emergency department with intractable seizures. Her initial metabolic evaluation was nonconclusive. Electroencephalogram was abnormal. Brain magnetic resonance imaging yielded a picture consistent with profound ischemic hypoxic injury. The second case was the 8-year-old brother of the index case. He suffered from intractable seizures since birth. On examination he was microcephalic with spastic quadriparesis and bilateral dislocation of lenses. Computed tomography of the brain revealed a low-density area in the white and cortical matter consistent with hypoxic-ischemic injury. His urinalysis for sulfocysteine produced findings consistent with isolated sulfite oxidase deficiency.
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Base de dados:
MEDLINE
Assunto principal:
Hipóxia-Isquemia Encefálica
/
Oxirredutases atuantes sobre Doadores de Grupo Enxofre
/
Erros Inatos do Metabolismo
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article