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X-linked adrenoleukodystrophy. The Saudi experience.

M A Al-Essa1, N A Sakati, S M Bakheet

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X-linked adrenoleukodystrophy (X-ALD) presents with diverse symptoms, impacting school performance, vision, and behavior. Early identification is crucial as current treatments are ineffective once neurological damage occurs.

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Area of Science:

  • Neuroscience
  • Genetics
  • Endocrinology

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the adrenal glands and nervous system.
  • It is characterized by the accumulation of very long-chain fatty acids (VLCFAs), leading to demyelination and neurological dysfunction.

Purpose of the Study:

  • To comprehensively evaluate the clinical, biochemical, neuroradiological, and neurophysiological characteristics of patients diagnosed with X-ALD.
  • To highlight the phenotypic variability and spectrum of presentations in X-ALD.

Main Methods:

  • A retrospective study was conducted on 10 patients diagnosed with X-ALD at King Faisal Specialist Hospital and Research Centre.
  • Data collected included clinical symptoms, biochemical markers (VLCFAs), brain MRI findings, and neurophysiological assessments.

Main Results:

  • Common symptoms included cognitive decline, visual and hearing impairment, behavioral changes, and seizures.
  • Brain MRI revealed characteristic white matter lesions in all patients. Biochemical analysis showed elevated VLCFAs in most patients.
  • Treatment modalities yielded unpromising results, with disease progression observed in most cases.

Conclusions:

  • X-ALD exhibits significant phenotypic variability, making early diagnosis challenging.
  • Early identification and intervention in asymptomatic individuals are critical, as therapeutic options are limited once neurological deficits are established.