A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
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.
Absoud
Michael
M
Department of Paediatric Neurology, Oxford Children's Hospital, Oxford, UK.
Parr
Jeremy R
JR
Halliday
Dorothy
D
Pretorius
Pieter
P
Zaiwalla
Zenobia
Z
Jayawant
Sandeep
S
D001284:Atrophy / Q000235:genetics / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020820:Dyskinesias / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors