Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child.

Keywords: Adrenoleukodystrophy; optic nerve demyelination; very-long-chain fatty acids EN Adrenoleukodystrophy optic nerve demyelination very-long-chain fatty acids 2757 2760 4 07/15/22 20220701 NES 220701 Adrenoleukodystrophy (ALD) is an x-linked recessive lipid storage genetic disorder due to modifications in the ABCD1 (ATP-binding cassette) gene, resulting in defective peroxisomal -oxidation and the excessive collection of very-long-chain fatty acids (VLCFAs) in tissues and plasma.[[1]] It causes progressive demyelination of the nervous system and manifests as dementia, behavioral changes, gait disturbances, sensory disturbances, and visual loss.[[2]] It can also present as a primary adrenal insufficiency resulting in hyperpigmentation in the skin and testicle. Adrenoleukodystrophy, optic nerve demyelination, very-long-chain fatty acids. [Extracted from the article]