X-linked adrenoleukodystrophy: A biochemical cause of developmental regression in a seemingly well child

Abstract

This case report outlines the diagnostic journey of a child with X-linked adrenoleukodystrophy (X-ALD) and discusses the prevalence, investigation and treatment of the condition. X-ALD is a rare condition, with a combined prevalence of heterozygotes and hemizygotes of about 1 in 17,000 children.1 It causes a peroxisomal fatty acid oxidation disorder that leads to inflammatory disease in the cerebral white matter. Patients may present with developmental arrest or regression and language difficulties, though this may be misidentified as an attention deficit disorder.