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

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 onse...

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Bibliographic Details
Published in:European journal of paediatric neurology 2008-09, Vol.12 (5), p.408-411
Main Authors: Orcesi, S, Pessagno, A, Biancheri, R, La Piana, R, Mascaretti, M, Rossi, A, Rice, G.I, Crow, Y.J, Fazzi, E, Veneselli, E
Format: Article
Language:English
Subjects:
Aicardi–Goutières syndrome
Atrophy - diagnosis
Atrophy - etiology
Atrophy - physiopathology
Basal ganglia calcifications
Basal Ganglia Diseases - diagnosis
Basal Ganglia Diseases - etiology
Basal Ganglia Diseases - physiopathology
Brain - diagnostic imaging
Brain - pathology
Calcinosis - diagnosis
Calcinosis - etiology
Calcinosis - physiopathology
Dementia, Vascular - diagnosis
Dementia, Vascular - physiopathology
Developmental Disabilities - diagnosis
Developmental Disabilities - etiology
Developmental Disabilities - physiopathology
Female
Genetic Predisposition to Disease - genetics
Humans
Infant
Interferon-alpha - cerebrospinal fluid
Leukodystrophy
Lymphocytosis - etiology
Microcephaly - diagnosis
Microcephaly - etiology
Microcephaly - physiopathology
Mutation - genetics
Neurology
Pediatrics
Syndrome
Tomography, X-Ray Computed
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Description
Summary: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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2007.10.005