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Titolo:
A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome
Autore:
Ostergaard, JR; Christensen, T; Nehen, AM;
Indirizzi:
Skejby Sygehus, Aarhus Univ Hosp, Dept Pediat A, DK-8200 Aarhus N, DenmarkSkejby Sygehus Aarhus Denmark N Dept Pediat A, DK-8200 Aarhus N, Denmark Skejby Sygehus, Aarhus Univ Hosp, MR Res Ctr, DK-8200 Aarhus, Denmark Skejby Sygehus Aarhus Denmark DK-8200 R Res Ctr, DK-8200 Aarhus, Denmark
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 1, volume: 30, anno: 1999,
pagine: 38 - 41
SICI:
0174-304X(199902)30:1<38:ADDICE>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; BASAL GANGLIA; INTRACEREBRAL CALCIFICATION; INTRACRANIAL CALCIFICATION; INTRAUTERINE INFECTION; 2 SIBS; INFANCY; LEUKODYSTROPHY;
Keywords:
congenital familial encephalopathy; chronic spinal fluid lymphocytosis; intracranial calcification; Aicardi-Goutieres syndrome; white matter disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Ostergaard, JR Skejby Sygehus, Aarhus Univ Hosp, Dept Pediat A, DK-8200 Aarhus N, Denmark Skejby Sygehus Aarhus Denmark N DK-8200 Aarhus N, Denmark
Citazione:
J.R. Ostergaard et al., "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome", NEUROPEDIAT, 30(1), 1999, pp. 38-41

Abstract

Two sibs with an encephalopathy, including intracerebral calcification anda white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutieres syndrome. Both sisters were affected by aspastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological findings were milder in the older sister and she showed no cerebrospinal fluid pleocytosis. The present cases and recent reports of intrafamilial variability of Aicardi-Goutieres syndrome may raise interesting aspects as to the limits and criteria of this syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 17:52:56