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Titolo:
AICARDI-GOUTIERES-SYNDROME - AN EXPANDING PHENOTYPE
Autore:
MCENTAGART M; KAMEL H; LEBON P; KING MD;
Indirizzi:
CHILDRENS HOSP,DEPT PAEDIAT NEUROL,TEMPLE ST DUBLIN 1 IRELAND CHILDRENS HOSP,DEPT NEUROL DUBLIN 1 IRELAND BEAUMONT HOSP,DEPT NEURORADIOL DUBLIN 9 IRELAND HOP ST VINCENT DE PAUL F-75674 PARIS FRANCE
Titolo Testata:
Neuropediatrics
fascicolo: 3, volume: 29, anno: 1998,
pagine: 163 - 167
SICI:
0174-304X(1998)29:3<163:A-AEP>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; INTRACEREBRAL CALCIFICATION; BASAL GANGLIA; INTERFERON; INFANCY; ALPHA;
Keywords:
AICARDI-GOUTIERES SYNDROME; INTERFERON ALPHA; BASAL GANGLIA CALCIFICATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
M. Mcentagart et al., "AICARDI-GOUTIERES-SYNDROME - AN EXPANDING PHENOTYPE", Neuropediatrics, 29(3), 1998, pp. 163-167

Abstract

The Aicardi-Goutieres syndrome (AGS) is an autosomal recessive progressive encephalopathy associated with basal ganglia calcification, white-matter abnormality, cerebro-spinal fluid (CSF) pleocytosis and elevated CSF interferon alpha (IFN alpha). Two brothers of consanguineous parents who presented in the first year with developmental delay are reported. The first boy is normocephalic with spastic diplegia and normal I.Q. Tests in the second year of life showed punctate calcification of the basal ganglia and subcortical white matter and CSF pleocytosis. At 9 years clinical and imaging features are unchanged and CSF including IFNa is normal. The second boy at 21 months has dystonic cerebral palsy, slight fall-off in head growth and cognitive delay. Imaging abnormalities are more severe than those in the brother, CSF examination reveals pleocytosis and marked increase in IFN alpha, Detailed metabolic and viral studies were negative in both cases. Although the clinical course is not progressive, it is suggested that the brothers have ACS and represent the mild end of the spectrum of the disorder. CSF examination (including IFN alpha), should be performed early in children with an apparently static encephalopathy and brain calcification, as typical abnormalities decrease or disappear with age.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:40:21