• Users Online: 217
  • Print this page
  • Email this page
CASE REPORTS
Year : 2019  |  Volume : 2  |  Issue : 3  |  Page : 130-133

Dystonic opisthotonus: A rare phenotype of adrenoleukodystrophy


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

Correspondence Address:
Dr. Sadanandavalli R Chandra
Faculty Block, Department of Neurology, Neurocentre, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru 560029, Karnataka.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AOMD.AOMD_13_19

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed653    
    Printed21    
    Emailed0    
    PDF Downloaded99    
    Comments [Add]    

Recommend this journal