Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
EARLY-INFANTILE GALACTOSIALIDOSIS WITH MULTIPLE BRAIN INFARCTIONS - MORPHOLOGICAL, NEUROPATHOLOGICAL AND NEUROCHEMICAL FINDINGS
Autore:
NORDBORG C; KYLLERMAN M; CONRADI N; MANSSON JE;
Indirizzi:
SAHLGRENS UNIV HOSP,DEPT PATHOL S-41345 GOTHENBURG SWEDEN OSTRA HOSP,DEPT PAEDIAT GOTHENBURG SWEDEN CENT HOSP MOLNDAL,INST CLIN NEUROSCI,DEPT PSYCHIAT & NEUROCHEM MOLNDAL SWEDEN
Titolo Testata:
Acta Neuropathologica
fascicolo: 1, volume: 93, anno: 1997,
pagine: 24 - 33
SICI:
0001-6322(1997)93:1<24:EGWMBI>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-NEURAMINIDASE DEFICIENCY; BETA-GALACTOSIDASE; STRUCTURAL CHARACTERIZATION; MEMBRANE-LIPIDS; NERVOUS-SYSTEM; SIALIDOSIS; SIALYLOLIGOSACCHARIDES; FIBROBLASTS; GANGLIOSIDE; STORAGE;
Keywords:
BRAIN INFARCTION; EARLY INFANCY; GALACTOSIALIDOSIS; NEUROCHEMISTRY; NEUROPATHOLOGY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
37
Recensione:
Indirizzi per estratti:
Citazione:
C. Nordborg et al., "EARLY-INFANTILE GALACTOSIALIDOSIS WITH MULTIPLE BRAIN INFARCTIONS - MORPHOLOGICAL, NEUROPATHOLOGICAL AND NEUROCHEMICAL FINDINGS", Acta Neuropathologica, 93(1), 1997, pp. 24-33

Abstract

Post-mortem morphological, neuropathological and neurochemical findings are described in a girl, aged 14 months, with the early-infantile form of galactosialidosis. An elevation in non-lipid sialic acid was noted in both the grey and white matter of the brain, whereas the white matter displayed a clear reduction in all the major lipids. Multiple cortical-subcortical infarctions were found in the brain, most probablycaused by compromised circulation due to endothelial luminal encroachment. Electron microscopy of cerebral blood vessels revealed major swelling of the endothelium due to prominent cytoplasmic vacuolisation. Multiple cytoplasmic vacuoles containing sparse granular or membranous matter were also seen in neurons and glial cells of the brain and spinal cord. Zebra bodies were found in the Purkinje cells, as well as in the spinal anterior horn cells. Prominent endothelial vacuolisation was noted in the liver and kidneys. The renal vascular encroachment was probably the cause of the arterial hypertension with elevated plasma renin activity in the present case. There were innumerable fine vacuoles in the renal epithelium and in the Kupffer cells of the liver, whereas coarser vacuoles were observed in the hepatocytes. The neuronal ultrastructural findings in the present case bear some resemblance to thefew reported cases of late-infantile and adult cases of galactosialidosis. The prominent endothelial vacuolisation and focal cerebrovascular lesions, that have not previously been described in galactosialidosis, may be features specific to the rapidly progressive early-infantileform.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 03:33:34