X-linked adrenoleukodystrophy - The Saudi experience

Objectives: To evaluate the clinical, biochemical, neuroradiological, and n europhysiological findings of patients with X-linked adrenoleukodystrophy. Methods: Retrospective study evaluating the data of 10 X-linked adrenoleuko dystrophy patients diagnosed at King Faisal Specialist Hospital and Researc h Centre, Riyadh, Saudi Arabia. Results: The common presenting symptoms were deterioration in school perfor mance, 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 e xcept 2 manifested moderate to severe dementia with variable degrees of vis ual 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-occip ital white matter on brain magnetic resonance imaging T-2-weighted images w as observed in all patients. Two patients had functional study of the brain , which showed hypometabolic activity in gray and white matter of the occip ital lobes. Various neurophysiological abnormalities were detected. The res ponse 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 re port describes various aspects of this disorder and emphasizes the importan ce of early identification and treatment of asymptomatic but biochemically affected individuals, since all current therapeutic approaches are disappoi nting if overt neurological abnormalities have been already developed.