Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 12, Issue 5, Pages 408-411Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2007.10.005
Keywords
basal ganglia calcifications; leukodystrophy; Aicardi-Goutieres syndrome
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Aicarcli-Goutieres 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-Goutieres syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutieres syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease. (C) 2007 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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