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Research ArticleOriginal Article
Open Access

X-linked adrenoleukodystrophy. The Saudi experience

Mohammed A. Al-Essa, Nadia A. Sakati, Siema M. Bakheet, Zoltan J. Patay, Omar Dabbagh, Enrique Chaves-Carbello and Pinar T. Ozand
Saudi Medical Journal January 2000, 21 (1) 61-70;
Mohammed A. Al-Essa
Department of Biological and Medical Research (MBC 03), King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. Tel. 464 7272 Ext. 32547. Fax. 442 7858.
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Nadia A. Sakati
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Siema M. Bakheet
Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Zoltan J. Patay
Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Omar Dabbagh
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Enrique Chaves-Carbello
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Pinar T. Ozand
Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
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Abstract

OBJECTIVE: To evaluate the clinical, biochemical, neuroradiological, and neurophysiological findings of patients with X-linked adrenoleukodystrophy.

METHODS: Retrospective study evaluating the data of 10 X-linked adrenoleukodystrophy patients diagnosed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

RESULTS: The common presenting symptoms were deterioration in school performance, vision and hearing, behavioral changes, and seizures. Eight patients survived 1-4 years and one patient 12 years after the initial presentation, while one patient expired. Six patients had the childhood form, 3 had the adolescent form and one had the adrenomyeloneuropathy form. Six are in an advanced stage of the disease and 3 have mild to moderate spasticity. All except 2 manifested moderate to severe dementia with variable degrees of visual loss. Decreased hearing and features of adrenal insufficiency were seen in 7 patients. Very long chain fatty acids were significantly increased in seven and mildly elevated in 2 patients, however the C26 to C22 ratio was increased in all. The characteristic high-signal intensity of parieto-occipital white matter on brain magnetic resonance imaging T2-weighted images was observed in all patients. Two patients had functional study of the brain, which showed hypometabolic activity in gray and white matter of the occipital lobes. Various neurophysiological abnormalities were detected. The response to different treatment modalities was not promising.

CONCLUSION: The disease is more common than had been previously recognized due to phenotypic variability and a wide spectrum of presentations. This report describes various aspects of this disorder and emphasizes the importance of early identification and treatment of asymptomatic but biochemically affected individuals, since all current therapeutic approaches are disappointing if overt neurological abnormalities have been already developed.

  • Copyright: © Saudi Medical Journal

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Saudi Medical Journal: 21 (1)
Saudi Medical Journal
Vol. 21, Issue 1
1 Jan 2000
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X-linked adrenoleukodystrophy. The Saudi experience
Mohammed A. Al-Essa, Nadia A. Sakati, Siema M. Bakheet, Zoltan J. Patay, Omar Dabbagh, Enrique Chaves-Carbello, Pinar T. Ozand
Saudi Medical Journal Jan 2000, 21 (1) 61-70;

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X-linked adrenoleukodystrophy. The Saudi experience
Mohammed A. Al-Essa, Nadia A. Sakati, Siema M. Bakheet, Zoltan J. Patay, Omar Dabbagh, Enrique Chaves-Carbello, Pinar T. Ozand
Saudi Medical Journal Jan 2000, 21 (1) 61-70;
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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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