Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI

Abstract

Adrenoleukodystrophy (ALD) is an X-linked recessive disorder characterized by demyelination of the CNS, adrenal insufficiency, and increased blood concentrations of very long chain fatty acids (VLCFA).1 The clinical phenotype of ALD is variable. The most common type of ALD is the childhood cerebral form, in which T2-weighted MRI of the brain typically shows areas of hyperintense signal in parieto-occipital white matter.2 In contrast, the olivopontocerebellar form of ALD is an uncommon phenotype identified in 1982 in an ALD family pedigree where clinical features resembled those of spinocerebellar degeneration.3 We report progression demonstrated by MRI in a patient whose olivopontocerebellar form of ALD included certain atypical lesions. A 29-year-old man was hospitalized with progressive gait disturbance and dysarthria for 6 months. He had a history of Addison disease beginning 3 years previously, treated with dexamethasone. On admission, physical examination showed increased skin pigmentation. Neurologic examination disclosed cerebellar ataxia, exaggerated deep tendon reflexes, and pathologic reflexes in all extremities. No mental disorder, visual disturbance, sensory deficit, or sphincteric disturbance was …