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Lookup NU author(s): Professor Jeremy Parr
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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.
Author(s): Parr J; Absoud M; Pretorius P; Zaiwalla Z; Jayawant S
Publication type: Article
Publication status: Published
Journal: Developmental Medicine and Child Neurology
ISSN (print): 0012-1622
ISSN (electronic): 1469-8749
Publisher: Mac Keith Press
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