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Titolo:
CLINICAL AND NEURORADIOLOGICAL FINDINGS IN CLASSIC INFANTILE AND LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE)
Autore:
BARONE R; BRUHL K; STOETER P; FIUMARA A; PAVONE L; BECK M;
Indirizzi:
UNIV MAINZ,KINDERKLIN,LANGENBECKSTR 1 D-55101 MAINZ GERMANY UNIV MAINZ,KINDERKLIN D-55101 MAINZ GERMANY UNIV MAINZ,INST NEURORADIOL D-55101 MAINZ GERMANY UNIV CATANIA,PEDIAT CLIN CATANIA ITALY
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 63, anno: 1996,
pagine: 209 - 217
SICI:
0148-7299(1996)63:1<209:CANFIC>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
CT FINDINGS; MR FINDINGS; LIPIDOSIS; FEATURES;
Keywords:
KRABBE DISEASE; GALACTOSYL CERAMIDE BETA-GALACTOSIDASE DEFICIENCY; MAGNETIC RESONANCE IMAGING; COMPUTED TOMOGRAPHY; GLOBOID-CELL LEUKODYSTROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
R. Barone et al., "CLINICAL AND NEURORADIOLOGICAL FINDINGS IN CLASSIC INFANTILE AND LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE)", American journal of medical genetics, 63(1), 1996, pp. 209-217

Abstract

In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patientswith a biochemical diagnosis of galactosyl ceramide beta-galactoside deficiency. Two presented as the classic infantile form and died within the second year of life, In 9 children the first clinical signs, such as gait difficulties and visual failure, started after age 2 years. All these patients developed slow regression of motor and mental capacities, and most of them died within their first decade, In patients ofboth groups computed tomography (CT) and magnetic resonance imaging (MRI) were performed, In the late-onset form, hypodensities of the central white matter and pyramidal tracts were the leading radiological signs, whereas in the early-onset form, hyperdensities and cerebellar white matter lesions were also detected, From our results it becomes clear that variability of Krabbe disease refers not only to clinical manifestation but also to CT and MRI findings. Better knowledge of phenotypic and radiological diversity will help to understand the pathogenesis of the disease. (C) 1996 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 15:15:02