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Titolo:
RECOGNIZABLE INHERITED SYNDROME OF PROGRESSIVE CENTRAL-NERVOUS-SYSTEMDEGENERATION AND GENERALIZED INTRACRANIAL CALCIFICATION WITH OVERLAPPING PHENOTYPE OF THE SYNDROME OF AICARDI AND GOUTIERES
Autore:
KUMAR D; RITTEY C; CAMERON AH; VARIEND S;
Indirizzi:
CTR HUMAN GENET,CLIN GENET UNIT,117 MANCHESTER RD SHEFFIELD S10 5DN SYORKSHIRE ENGLAND SHEFFIELD CHILDRENS HOSP,CLIN GENET UNIT SHEFFIELD S YORKSHIRE ENGLAND SHEFFIELD CHILDRENS HOSP,PAEDIAT NEUROL UNIT SHEFFIELD S YORKSHIRE ENGLAND SHEFFIELD CHILDRENS HOSP,DEPT HISTOPATHOL SHEFFIELD S YORKSHIRE ENGLAND BIRMINGHAM CHILDRENS HOSP,DEPT HISTOPATHOL BIRMINGHAM W MIDLANDS ENGLAND
Titolo Testata:
American journal of medical genetics
fascicolo: 5, volume: 75, anno: 1998,
pagine: 508 - 515
SICI:
0148-7299(1998)75:5<508:RISOPC>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL ENCEPHALOPATHY; CEREBRAL CALCIFICATIONS; INTRAUTERINE INFECTION; BASAL GANGLIA; ALPHA;
Keywords:
INTRACRANIAL CALCIFICATION; CEREBRAL CALCINOSIS, FAMILIAL ENCEPHALOPATHY, AUTOSOMAL RECESSIVE; POSTNATAL MICROCEPHALY, SPASTIC PARAPARESIS; SEIZURES, BASAL GANGLIA CALCIFICATION; CEREBROSPINAL FLUID (CSF) PLEOCYTOSIS; INTERFERON-ALPHA (IFN-ALPHA);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
17
Recensione:
Indirizzi per estratti:
Citazione:
D. Kumar et al., "RECOGNIZABLE INHERITED SYNDROME OF PROGRESSIVE CENTRAL-NERVOUS-SYSTEMDEGENERATION AND GENERALIZED INTRACRANIAL CALCIFICATION WITH OVERLAPPING PHENOTYPE OF THE SYNDROME OF AICARDI AND GOUTIERES", American journal of medical genetics, 75(5), 1998, pp. 508-515

Abstract

Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handicap. Cerebrospinal fluid (CSF) pleocytosis was presentin three children. Neuroimaging with computerized tomography on threeboys and a girl showed generalized cortical atrophy, dilatation of the lateral, third, and fourth ventricles, widening of the surface CSF spaces, hypoplasia of the posterior fossa structures, and multiple and solitary calcifications in the cerebral cortex and punctate calcifications involving basal ganglia, cerebellum, and the Sylvian fissure. Histopathological examination of the brain from three boys and one girl confirmed generalized cortical and cerebellar atrophy with widespread calcifications within the cortical grey and white matter, the basal ganglia, the cerebellum, and in some areas along the capillaries. Investigations excluded a possible nongenetic cause. Parental consanguinity favor autosomal recessive inheritance. This appears to be a recognizable syndrome overlapping the syndrome of Aicardi and Goutieres (MIM 225750).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 09:29:12