Case of Aicardi-Goutières syndrome with long-lasting increase of cerebrospinal interferon-alpha

J Child Neurol. 2005 Nov;20(11):915-9. doi: 10.1177/08830738050200111101.

Abstract

Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by a typical clinical picture, bilateral basal ganglia calcifications, leukodystrophy and brain atrophy, lymphocytosis, and elevated interferon-alpha in the cerebrospinal fluid. Among the cases described to date, variability in the clinical expression or in the cerebrospinal fluid abnormalities has been reported. We present a case with a delayed diagnosis at the age of 8 years, when brain computed tomography was done because there was no first image from the age of 8 months, when the disease started. Symmetric basal ganglia calcifications were visualized and led to purposeful investigation of the cerebrospinal fluid. It revealed an interferon-alpha titer of 103 IU/mL, which, together with the progressive brain damage and disease course, was crucial for the diagnosis. This rare finding of long-term highly elevated interferon-alpha in the cerebrospinal fluid is discussed with respect to the clinical course.

MeSH terms

  • Atrophy
  • Basal Ganglia / pathology
  • Brain Diseases / pathology*
  • Calcinosis / etiology
  • Child
  • Female
  • Humans
  • Interferon-alpha / cerebrospinal fluid*
  • Lymphocytosis / etiology
  • Syndrome
  • Time Factors
  • Tomography, X-Ray Computed

Substances

  • Interferon-alpha