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A novel ARX phenotype: Rapid neurodegeneration with Ohtahara Syndrome and a dyskinetic movement disorder

Lookup NU author(s): Professor Jeremy Parr

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Abstract

ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy.

Publication metadata

Author(s): Absoud M, Parr J, Pretorius P, Zaiwalla Z, Jayawant S

Publication type: Article

Publication status: Published

Journal: Developmental Medicine and Child Neurology

Year: 2009

Volume: 52

Issue: 3

Pages: 305-307

Print publication date: 01/03/2010

Online publication date: 11/09/2009

ISSN (print): 0012-1622

ISSN (electronic): 1469-8749

Publisher: Mac Keith Press

URL: http://dx.doi.org/10.1111/j.1469-8749.2009.03470.x

DOI: 10.1111/j.1469-8749.2009.03470.x

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