Abstract
X-linked adrenoleukodystrophy (X-ALD) is a pan-ethnic disorder and affects approximately 1:20,000 males (Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Rev Clin Pract Neurol 2007;3:140-51; Natarajan A, Christopher R, Netravathi M, Bhat M, Chandra SR. Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. Clin Chim Acta 2018;485:305-10). Phenotypes include the childhood cerebral form, which affects children who present with rapid cognitive decline. Adolescents and adults present with spastic paraparesis or adrenomyeloneuropathies and also as pure Addison's disease. The less common presentations are psychosis and cortical blindness. A 9-year-old boy presented with progressive cognitive decline, behavioral disturbance, extrapyramidal symptoms, and opisthotonic posturing. Magnetic resonance imaging of brain and blood levels of very long-chain fatty acids lysophosphatidylcholine confirmed X-ALD.
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