title: The Aircardi-Goutières syndrome: variable clinical expression in two siblings.
abstract: We report 2 siblings with the Aicardi-Goutières syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.
authors.affiliation: Department of Pediatric Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Verrips
authors.forename: J A
authors.initials: JA
authors.lastname: Hiel
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: P
authors.initials: P
authors.lastname: Wesseling
authors.forename: J J
authors.initials: JJ
authors.lastname: Rotteveel
mesh_terms: D001480:Basal Ganglia Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D001927:Brain Diseases / Q000134:cerebrospinal fluid / Q000235:genetics*; D002114:Calcinosis / Q000134:cerebrospinal fluid / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D008297:Male; D013577:Syndrome