Neurologic injury in isolated sulfite oxidase deficiency.

摘要: BACKGROUND We review clinical, neuroimaging, and genetic information on six individuals with isolated sulfite oxidase deficiency (ISOD). METHODS All patients were examined, clinical records, biochemistry, gene (SUOX) sequencing reviewed. RESULTS Data was available from four nuclear families affected by ISOD. Each individual began to seize within the first week of life. neurologic development arrested at brainstem reflexes, severe microcephaly developed rapidly. neuroimaging days birth revealed hypoplasia cerebellum corpus callosum damage supratentorial brain looking like hypoxic-ischemic injury that evolved into cystic hemispheric white matter changes. Affected all had elevated urinary S-sulfocysteine normal xanthine hypoxanthine levels diagnostic Genetic studies confirmed SUOX mutations in patients. CONCLUSIONS ISOD impairs systemic metabolism, yet this disease affects only is commonly confused radiologic features encephalopathy. Lesions neurologiques dans le deficit isole en oxydase.