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

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 di...

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Autores principales: Pavel, Andreea M, Stephens, Carol M, Mathieson, Sean R, Walsh, Brian H, McNamara, Brian, McSweeney, Niamh, Boylan, Geraldine B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669778/
https://www.ncbi.nlm.nih.gov/pubmed/34957373
http://dx.doi.org/10.12688/hrbopenres.13442.1
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author Pavel, Andreea M
Stephens, Carol M
Mathieson, Sean R
Walsh, Brian H
McNamara, Brian
McSweeney, Niamh
Boylan, Geraldine B
author_facet Pavel, Andreea M
Stephens, Carol M
Mathieson, Sean R
Walsh, Brian H
McNamara, Brian
McSweeney, Niamh
Boylan, Geraldine B
author_sort Pavel, Andreea M
collection PubMed
description 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.
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spelling pubmed-86697782021-12-23 Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review Pavel, Andreea M Stephens, Carol M Mathieson, Sean R Walsh, Brian H McNamara, Brian McSweeney, Niamh Boylan, Geraldine B HRB Open Res Case Report 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. F1000 Research Limited 2021-11-23 /pmc/articles/PMC8669778/ /pubmed/34957373 http://dx.doi.org/10.12688/hrbopenres.13442.1 Text en Copyright: © 2021 Pavel AM et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pavel, Andreea M
Stephens, Carol M
Mathieson, Sean R
Walsh, Brian H
McNamara, Brian
McSweeney, Niamh
Boylan, Geraldine B
Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title_full Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title_fullStr Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title_full_unstemmed Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title_short Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
title_sort case report: electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669778/
https://www.ncbi.nlm.nih.gov/pubmed/34957373
http://dx.doi.org/10.12688/hrbopenres.13442.1
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