Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

@article{Blau2003CerebrospinalFP,
  title={Cerebrospinal fluid pterins and folates in Aicardi-Gouti{\`e}res syndrome: a new phenotype.},
  author={Nenad Blau and Luisa Bonafė and Ingeborg Kr{\"a}geloh-Mann and Beat Th{\"o}ny and Lucja Kierat and Martin Haeusler and Vincent Ramaekers},
  journal={Neurology},
  year={2003},
  volume={61 5},
  pages={
          642-7
        }
}
OBJECTIVE To describe three unrelated children with a distinctive variant of Aicardi-Goutières syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures. RESULTS Neuroimaging showed bilateral calcification of basal ganglia and white matter. CSF glucose, protein, cell count, and interferon alpha were normal. Abnormal CSF findings included extremely high neopterin (293 to 814 nmol/L; normal 12 to 30 nmol/L) and biopterin… CONTINUE READING

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