Leukoencephalopathy, Cerebral Calcifications, and Chronic Cerebrospinal Fluid Lymphocytosis (Aicardi-Goutières Syndrome)

  • Marjo S. van der Knaap
  • Jacob Valk


In 1984, Aicardi and Goutières described eight infants with progressive microcephaly, spasticity, dystonia, persistent lymphocytic pleiocytosis and elevated CSF protein; neuroimaging revealed a combination of white matter abnormalities and calcium depositions, most prominent in the basal nuclei. The course of disease was fatal over a period of months or years. Some patients were sibs, and autosomal recessive inheritance was suggested. Among the eight infants some variability was noted. The CSF lymphocyte count varied from only slightly elevated to over 100 cells/mm3; protein level varied from normal to more than 1 g/l. A variation in CSF composition was found in the same patient at different occasions and between patients. In two patients, CT showed no calcifications, whereas their sibs had calcifications of the basal nuclei. In two patients calcium depositions were not only seen in the basal nuclei, but punctate calcifications were also present in the white matter alongside the ventricle wall.


White Matter Globus Pallidus Calcium Deposit Basal Nucleus White Matter Abnormality 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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