Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

摘要: Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation occur from 8 weeks age. The neuropathological findings in ISOD are similar to those seen perinatal asphyxia. We describe two siblings born healthy non-consanguineous parents. first child presented within 48 h poor feeding seizures. He died septicaemia on day 20 life. clinical presentation, neuroradiology autopsy suggested diagnosis hypoxic ischaemic encephalopathy low recurrence risk. second an hour birth. She lived for 16 months during time she failed make developmental progress continued experience Her was her brother’s. A high urinary S-sulphocysteine the confirmed by absence activity skin fibroblast culture. has enabled couple access testing subsequent pregnancy. Conclusion:Isolated condition mimic encephalophathy. disorder should be considered all cases intrauterine seizures, newborn period radiological features encephalophathy, especially when no obvious insult can determined.