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