The Aircardi-Goutières syndrome: variable clinical expression in two siblings.
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.
Verrips
A
A
Department of Pediatric Neurology, University Hospital Nijmegen, The Netherlands.
Hiel
J A
JA
Gabreëls
F J
FJ
Wesseling
P
P
Rotteveel
J J
JJ
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