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Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Orcesi, S, Pessagno, A, Biancheri, R, La Piana, R, Mascaretti, M, Rossi, A, Rice, G, Crow, YJ, Fazzi, E, Veneselli, E

Eur J Paediatr Neurol. 2008;12( 5):408-11.

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Abstract

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 a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
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Published date:
Journal title:
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Place of publication:
England
Volume:
12( 5)
Start page:
408
End page:
11
Pagination:
408-11
Digital Object Identifier:
10.1016/j.ejpn.2007.10.005
Access state:
Active

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Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d18557
Created:
30th August, 2009, 14:54:22
Last modified:
19th August, 2010, 12:32:00

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