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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1987-1-27
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pubmed:abstractText |
Norman & Tingey (1966) reported a new syndrome of micrencephaly, strio-cerebellar calcifications and leucodystrophy and in 1968, Lyon & col. reported the same syndrome plus dwarfism. These authors did not describe cerebrospinal fluid (CSF) alterations. In 1984, Aicardi & Goutièrres described 8 children from 5 different families with a syndrome like above referred to but with chronic CSF lymphocytosis; all patients had a progressive evolution, with familial character, with probable autosomic recessive heritage. It is the purpose of this report to relate a case similar to Aicardi & Goutièrres' cases in a male caucasian patient of jewish ashkenazim origin with 6 and a half month of age, but with a study of CSF lymphocytes T and B. Diminished T-subpopulations of active and avid-T were found suggesting local signalization of antibodies in the central nervous system. The differential diagnosis and that strange combination of a probable genetic etiology and an immunitary process revealing a local inflammatory process are discussed.
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pubmed:language |
por
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0004-282X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
44
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
185-90
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pubmed:dateRevised |
2009-11-11
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pubmed:meshHeading |
pubmed-meshheading:3800692-Basal Ganglia Diseases,
pubmed-meshheading:3800692-Calcinosis,
pubmed-meshheading:3800692-Diffuse Cerebral Sclerosis of Schilder,
pubmed-meshheading:3800692-Humans,
pubmed-meshheading:3800692-Infant,
pubmed-meshheading:3800692-Lymphocytosis,
pubmed-meshheading:3800692-Male,
pubmed-meshheading:3800692-Syndrome
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pubmed:year |
1986
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pubmed:articleTitle |
[Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case].
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
|