LAUSR

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 β‐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. The incidence rate of ALD is 1 in 20,000 population. [3] Childhood ALD is the most common variant, and it primarily presents with either neurological symptoms or adrenal insufficiency.[4] Visual disturbance eventually develops due to optic atrophy.[2] We report a case of childhood adrenoleukodystrophy presenting with visual disturbances as the first symptom without any neurological signs.