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A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder
Author(s) -
ABSOUD MICHAEL,
PARR JEREMY R,
HALLIDAY DOROTHY,
PRETORIUS PIETER,
ZAIWALLA ZENOBIA,
JAYAWANT SANDEEP
Publication year - 2010
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2009.03470.x
Subject(s) - atrophy , white matter , neurodegeneration , movement disorders , medicine , pediatrics , encephalopathy , cerebral atrophy , phenotype , neurological disorder , neuroscience , psychology , central nervous system disease , pathology , magnetic resonance imaging , disease , biology , genetics , gene , radiology
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.