Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

@article{Elbracht2017StrokeAI,
  title={Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.},
  author={Miriam Elbracht and M Mull and Norbert Wagner and Christiane K. Kuhl and Angela Abicht and Ingo Kurth and Klaus Tenbrock and Martin H{\"a}usler},
  journal={Neuropediatrics},
  year={2017},
  volume={48 2},
  pages={111-114}
}
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic… CONTINUE READING
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