Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency - a case report and literature review

HRB Open Res. 2021 Nov 23:4:122. doi: 10.12688/hrbopenres.13442.1. eCollection 2021.


Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is disrupted. The most common form of this disease has an early onset (classical ISOD) in the neonatal period, with hypotonia, poor feeding and intractable seizures, mimicking hypoxic-ischaemic encephalopathy. The evolution is rapidly progressive to severe developmental delay, microcephaly and early death. Unfortunately, there is no effective treatment and the prognosis is very poor. In this article, we described the evolution of early continuous electroencephalography (EEG) in a case of ISOD with neonatal onset, as severely encephalopathic background, with refractory seizures and distinct delta-beta complexes. The presence of the delta-beta complexes might be a diagnostic marker in ISOD. We also performed a literature review of published cases of neonatal ISOD that included EEG monitoring.

Keywords: neonatal seizures; encephalopathy; electroencephalography; sulfite oxidase deficiency; refractory seizures; brain MRI; case report.

Publication types

  • Case Reports

Grants and funding

Health Research Board [CDA-2018-008].