Abstract
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.
Highlights
Onset isolated sulfite oxidase deficiency (ISOD) is a rare neuro-metabolic disease affecting infants in newborn period, with a very poor prognosis
We present the case of a newborn with ISOD, and we describe in detail the evolution of the electroencephalographic background and electrographic seizure activity, suggesting that the presence of specific delta-beta complexes might be a diagnostic marker of this disease
Three infants in the 19 included in our review had no follow up reported, all the remaining infants had severe developmental delay and seven died before 3 years of age. To our knowledge, this is the first case report of a newborn diagnosed with early onset ISOD where prolonged continuous EEG monitoring in the neonatal period was recorded and described
Summary
Stanford University, Any reports and responses or comments on the article can be found at the end of the article. Keywords neonatal seizures; encephalopathy; electroencephalography; sulfite oxidase deficiency; refractory seizures; brain MRI; case report. Author roles: Pavel AM: Conceptualization, Data Curation, Formal Analysis, Funding Acquisition, Investigation, Methodology, Project Administration, Writing – Original Draft Preparation; Stephens CM: Conceptualization, Data Curation, Formal Analysis, Funding Acquisition, Investigation, Methodology, Writing – Original Draft Preparation; Mathieson SR: Conceptualization, Data Curation, Formal Analysis, Investigation, Methodology, Writing – Review & Editing; Walsh BH: Conceptualization, Data Curation, Formal Analysis, Investigation, Methodology, Supervision, Writing – Review & Editing; McNamara B: Conceptualization, Data Curation, Formal Analysis, Investigation, Methodology, Supervision, Writing – Review & Editing; McSweeney N: Conceptualization, Data Curation, Formal Analysis, Investigation, Methodology, Supervision, Writing – Review & Editing; Boylan GB: Conceptualization, Data Curation, Formal Analysis, Funding Acquisition, Investigation, Methodology, Project Administration, Supervision, Writing – Review & Editing.
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