Adrenoleukodystrophy (melanodermic leukodystrophy; sudanophilic leukodystrophy)

General: Degenerative metabolic disease in which cholesterol with long-chain fatty acids accumulates in affecte 555g69f d cells; symptoms usually begin between ages 3 and 12 years but may have their onset in adulthood; X-linked recessive with predominantly central nervous system and adrenal dysfunction.

Ocular: Optic atrophy; retinal ganglion cell degeneration; exotropia; esotropia; cataracts; optic pallor; optic nerve hypoplasia; visual field defects; macular pigmentary changes; progressive visual loss.

Clinical: Central nervous system manifestations consisting of behavioral changes, disturbance of gait, dysarthria, and dysphagia; seizures; spastic quadriparesis; decorticate posturing; one third of patients show adrenal insufficiency.

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Glasgow BJ, et al. Ocular pathologic findings in neonatal adrenoleukodystrophy. Ophthalmology 1987; 94: 1054-l060.

MacCollin M, De Vivo DC. Adrenoleukodystrophy. In: Rowland LP, ed. Merritts Textbook of Neurology, 9th ed. Baltimore: Williams & Wilkins, 1995:579-580.

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