Linked Life Data

18069026

Source:http://linkedlifedata.com/resource/pubmed/id/18069026

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-8-11
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1090-3798
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
408-11
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.
pubmed:affiliation
Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology Foundation, Pavia, Italy. simona.orcesi@mondino.it
pubmed:publicationType
Journal Article, Case Reports