Isolated sulfite oxidase deficiency, a rare neurodegenerative disorder which mimics hypoxic-ischemic encephalopathy

摘要: Isolated sulfite oxidase deficiency is a rare but devastating autosomal recessive neurometabolic disorder character- ized by neonatal-onset encephalopathy mimicking hypoxic-ischemic insult with intractable seizures and profound neurological dysfunction. Infants who survive characteristically manifest severe psychomotor retardation, progressive microcephaly, spastic quadriparesis, opisthotonus, movement disorders lens dislocation. Sulfite mitochondrial enzyme encoded the SUOX gene essential for detoxification of sulfite, terminal reaction in degradation sulfur-containing amino acids. Laboratory evidence disease includes positive urinary dipstick test, abnormal acid profile elevated plasma or S-sulfocysteine level, high taurine reduced cysteine concentration whilst serum uric excretion acid, xanthine hypoxanthine are normal. Brain magnetic resonance imaging demonstrates pattern reminiscent that observed characterized temporal alterations initial cerebral edema later white matter cavitary changes representing cystic encephalomalacia. In absence perinatal asphyxia, isolated should prompt appropriate biochemical evaluation. This report describes male infant presented neonatal neuroimaging findings suggestive ischemic encephalopathy.