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[Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case].
- Source :
-
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 1986 Jun; Vol. 44 (2), pp. 185-90. - Publication Year :
- 1986
-
Abstract
- 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.
- Subjects :
- Basal Ganglia Diseases diagnosis
Calcinosis diagnosis
Diffuse Cerebral Sclerosis of Schilder diagnosis
Humans
Infant
Lymphocytosis diagnosis
Lymphocytosis genetics
Male
Syndrome
Basal Ganglia Diseases genetics
Calcinosis genetics
Diffuse Cerebral Sclerosis of Schilder genetics
Lymphocytosis cerebrospinal fluid
Subjects
Details
- Language :
- Portuguese
- ISSN :
- 0004-282X
- Volume :
- 44
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Arquivos de neuro-psiquiatria
- Publication Type :
- Academic Journal
- Accession number :
- 3800692
- Full Text :
- https://doi.org/10.1590/s0004-282x1986000200011