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Neurologic Injury in Isolated Sulfite Oxidase Deficiency

Published online by Cambridge University Press:  23 September 2014

Thomas M. Bosley ,
Ibrahim A. Alorainy ,
Darren T. Oystreck ,
Ali M. Hellani ,
Mohammed Z. Seidahmed ,
Mohamed El Faki Osman ,
Mohamed A. Sabry ,
Mohamed S. Rashed ,
Eiman A. Al-Yamani  and
Khaled K. Abu-Amero
...Show all authors
Thomas M. Bosley
Affiliation:
Department of Ophthalmology, College of Medicine, King Saud University
Ibrahim A. Alorainy
Affiliation:
Radiology, College of Medicine, King Saud University
Darren T. Oystreck
Affiliation:
Department of Ophthalmology, College of Medicine, King Saud University Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, USA
Ali M. Hellani
Affiliation:
Division of Ophthalmology, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, South Africa
Mohammed Z. Seidahmed
Affiliation:
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh
Mohamed El Faki Osman
Affiliation:
Pediatrics, College of Medicine, King Saud University
Mohamed A. Sabry
Affiliation:
PGD Laboratory, Saad Medical Center, al Khobar, Saudi Arabia
Mohamed S. Rashed
Affiliation:
PGD Laboratory, Saad Medical Center, al Khobar, Saudi Arabia
Khaled K. Abu-Amero*
Affiliation:
Department of Ophthalmology, College of Medicine, King Saud University
Mustafa A. Salih
Affiliation:
Pediatrics, College of Medicine, King Saud University
*
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Email: abuamero@gmail.com.
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Abstract

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Background:

We review clinical, neuroimaging, and genetic information on six individuals with isolated sulfite oxidase deficiency (ISOD).

Methods:

All patients were examined, and clinical records, biochemistry, neuroimaging, and sulfite oxidase gene (SUOX) sequencing were reviewed.

Results:

Data was available on six individuals from four nuclear families affected by ISOD. Each individual began to seize within the first week of life. neurologic development was arrested at brainstem reflexes, and severe microcephaly developed rapidly. neuroimaging within days of birth revealed hypoplasia of the cerebellum and corpus callosum and damage to the supratentorial brain looking like severe hypoxic-ischemic injury that evolved into cystic hemispheric white matter changes. Affected individuals all had elevated urinary S-sulfocysteine and normal urinary xanthine and hypoxanthine levels diagnostic of ISOD. Genetic studies confirmed SUOX mutations in four patients.

Conclusions:

ISOD impairs systemic sulfite metabolism, and yet this genetic disease affects only the brain with damage that is commonly confused with the clinical and radiologic features of severe hypoxic-ischemic encephalopathy.

Résumé

RÉSUMÉ

Lésions neurologiques dans le déficit isolé en sulfite oxydase.

Contexte:

Nous avons revu l'information clinique, de neuroimagerie et génétique de 6 individus atteints d'un déficit isolé en sulfite oxydase (DISD).

Méthode:

Tous les patients ont été examinés et leurs dossiers ont été revus, incluant la biochimie, la neuroimagerie et le séquençage du gène de la sulfite oxydase (SUOX).

Résultats:

Les données de 6 individus, faisant partie de 4 familles nucléaires différentes, atteintes de SUOX, étaient disponibles. Chaque individu a commencé à présenter des crises convulsives au cours de la première semaine de vie. Le développement neurologique était limité à la présence de réflexes du tronc cérébral et une microcéphalie sévère s'installait rapidement. La neuroimagerie effectuée dans les premiers jours après la naissance a montré une hypoplasie du cervelet et du corps calleux et des dommages sus-tentofiels ressemblant à une lésion hypoxique-ischémique sévère qui évoluait vers des changements d'aspect kystique de la substance blanche hémisphérique. Les individus atteints avaient tous un taux urinaire élevé de S-sulfocystéine et un taux urinaire normal de xanthine et d'hypoxanthine, caractéristiques du DISD. Les études génétiques ont confirmé une mutation de SUOX chez 4 patients.

Conclusions:

Le DISD perturbe le métabolisme systémique du sulfite et pourtant cette maladie génétique n'atteint que le cerveau. Le dommage à ce niveau est souvent confondu avec les manifestations cliniques et radiologiques d'une encéphalopathie hypoxique-ischémique sévère.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 41 , Issue 1 , January 2014 , pp. 42 - 48
Copyright
Copyright © The Canadian Journal of Neurological 2014

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