title: Case of Aicardi-Goutières syndrome with long-lasting increase of cerebrospinal interferon-alpha.
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.
authors.affiliation: Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.
authors.forename: Petia S
authors.initials: PS
authors.lastname: Dimova
authors.forename: Olya A
authors.initials: OA
authors.lastname: Mikova
mesh_terms: D001284:Atrophy; D001479:Basal Ganglia / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology; D002648:Child; D005260:Female; D006801:Humans; D016898:Interferon-alpha / Q000134:cerebrospinal fluid*; D008218:Lymphocytosis / Q000209:etiology; D013577:Syndrome; D013997:Time Factors; D014057:Tomography, X-Ray Computed
chemical_list: D016898:Interferon-alpha