Year : 2019 | Volume
: 2 | Issue : 3 | Page : 130--133
Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy
Sindhu D Mallikarjuna1, Sadanandavalli R Chandra1, Hansashree Padmanabha1, Rita Christopher2
1 Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
2 Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
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«SQ»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.
Dr. Sadanandavalli R Chandra
Faculty Block, Department of Neurology, Neurocentre, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru 560029, Karnataka.
|How to cite this article:|
Mallikarjuna SD, Chandra SR, Padmanabha H, Christopher R. Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy.Ann Mov Disord 2019;2:130-133
|How to cite this URL:|
Mallikarjuna SD, Chandra SR, Padmanabha H, Christopher R. Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy. Ann Mov Disord [serial online] 2019 [cited 2020 Dec 6 ];2:130-133
Available from: https://www.aomd.in/article.asp?issn=2590-3446;year=2019;volume=2;issue=3;spage=130;epage=133;aulast=Mallikarjuna;type=0