DOI: 10.36347/sjmcr.2019.v07i05.014

Pages: 357–358

Sulphite oxidase deficiency is known to be a rare autosomal neurometabolic disorder in turn which is characterized by neonatal-onset encephalopathy mimicking hypoxic-ischemic insult with intractable seizure. The report shows a three years old girl presenting with intermittent ataxia, recurrent seizures and uncoordinated body movements and bilateral lens dislocation. Further investigations led to confirmation of isolated sulfite oxidase deficiency. This case represent the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with intellectual disability make us to look for this diagnosis.