Lack of progression of brain atrophy in Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome is a severe and progressive familial encephalopa thy that is characterized by acquired microcephaly, intracranial calcificat ion (mainly of the basal ganglia), signs of white matter disease, and chron ic lymphocytosis with elevated levels of interferon-alpha in the cerebrospi nal fluid in the absence of other evidence of infection. Although the degre e of calcification and the severity of brain atrophy are variable, typicall y the brain lesions appear to progress on successive examinations. In this article a 4-year-old male patient with Aicardi-Goutieres syndrome who manif ested the typical neurologic signs of the disease was re-evaluated. The eva luation revealed, on successive cranial computed tomography and magnetic re sonance imaging scans, increasing calcification with remarkable reduction o f brain atrophy. To the best of our knowledge, there is only one previously mentioned study of a 4-year-old female patient with progressive features o f Aicardi-Goutieres syndrome, including intracranial calcification, who dis played a lack of progression of brain atrophy at MRI scan. (C) 2001 by Else vier Science Inc. All rights reserved.