Article
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2008
Orcesi S, Pessagno A, Biancheri R, La Piana R, Mascaretti M, Rossi A, Rice G I, Crow Y J, Fazzi E, Veneselli E
Abstract excerpt
Aicardi-Goutières syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Goutières syndrome presenting atypically as...
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