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Updated: Sep 27 2016


  • Snapshot
    • A 9-year-old boy presents with confusion and decreased school performance. Spastic gait, dysarthria, dysphagia, and visual loss soon develop. On MRI, there is massive demyelination of the white matter in the posterior areas of the hemispheres.
  • Introduction
    • An X-linked recessive disorder that leads to a peroxisomal enzyme deficiency
      • accumulation of very long-chain fatty acids (VLCFA)
      • affects CNS, adrenal cortex, and Leydig cells of testes
    • Spectrum of phenotype
      • childhood cerebral form
      • adrenomyeloneuropathy
      • Addison disease
    • Affects young males usually begining at age 7-8
    • Characterized by
      • massive central demyelination
      • adrenal insufficiency
  • Presentation
    • Symptoms
      • mental deterioration
      • aphasia
      • hyperpigmentation of skin
      • seizures
      • vision loss (33%)
  • Evaluation
    • VLCFA panel
      • if elevated, or abnormal ratio, do mutation analysis to confirm
        • in females, VLCFA is less sensitive
          • mutation analysis is definitive test
    • Plasma ACTH
      • for adrenal function
      • females usually have normal adrenal function
    • Neuroimaging
      • MRI
        • demonstrate cerebral white matter demyelination
          • occipitoparietal area typically affected
  • Differential
    • Metachromatic leukodystrophy
    • Krabbe disease
    • Tay-Sachs disease
  • Treatment
    • Corticosteroid replacement therapy
      • for adrenal insufficiency, if present
    • Hematopoietic cell transplantation
      • for early stages of cerebral involvement
    • Lorenzo's oil
      • for those without clinical or MRI evidence of adrenoleukodystrophy
        • better than no treatment
  • Prognosis, Prevention, and Complications
    • Death by age 12
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