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Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Leah SvingenMitchell GoheenRena GodfreyColleen WahlEva H BakerWilliam A GahlMay Christine V MalicdanCamilo Toro
Published in: Developmental medicine and child neurology (2017)
We identified two siblings (sister and brother) with atypical Aicardi-Goutières syndrome type 2 due to RNASEH2B mutation. Manifestations included spastic quadriplegia and anarthria but preserved intellect and increased iron signal in the basal ganglia. RNASEH2B-related Aicardi-Goutières syndrome type 2 can have present with a variable phenotype, including idiopathic spastic cerebral palsy.
Keyphrases
  • cerebral palsy
  • case report
  • autism spectrum disorder
  • intellectual disability
  • upper limb
  • resting state
  • blood brain barrier
  • photodynamic therapy
  • botulinum toxin
  • functional connectivity