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Titolo:
LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL ABNORMALITIES IN CHILDREN WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Autore:
HOLZBACH U; HANEFELD F; HELMS G; HANICKE W; FRAHM J;
Indirizzi:
UNIV GOTTINGEN,KINDERKLIN,SCHWERPUNKT NEUROPADIAT,ROBERT KOCH STR 40 D-37075 GOTTINGEN GERMANY UNIV GOTTINGEN,KINDERKLIN,SCHWERPUNKT NEUROPADIAT D-37075 GOTTINGEN GERMANY MAX PLANCK INST BIOPHYS CHEM,BIOMED NMR FORSCH GMBH GOTTINGEN GERMANY
Titolo Testata:
Acta paediatrica
fascicolo: 7, volume: 84, anno: 1995,
pagine: 781 - 786
SICI:
0803-5253(1995)84:7<781:LPMSOC>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN BRAIN; OLIVOPONTOCEREBELLAR ATROPHY; METABOLIC ALTERATIONS; NMR-SPECTROSCOPY; NEONATAL ONSET; IN-VIVO; DISORDERS; VARIANT; SPECTRA; INVIVO;
Keywords:
CDG SYNDROME; CEREBELLAR ATROPHY; MAGNETIC RESONANCE IMAGING; PROTON MAGNETIC RESONANCE SPECTROSCOPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
U. Holzbach et al., "LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL ABNORMALITIES IN CHILDREN WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME", Acta paediatrica, 84(7), 1995, pp. 781-786

Abstract

Morphologic and metabolic abnormalities in six children aged 2-9 years with carbohydrate-deficient glycoprotein (CDG) syndrome were assessed by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). In all patients, MRI revealed pronounced cerebellar atrophy. Follow-up examinations in two patients suggested early onset and rapid progression in the first years of life. Further pathologies comprised Dandy-Walker malformation, atrophy of the pens, brain stem and olives, supratentorial frontotemporal cortical atrophy, slightly dilated ventricles and a small corpus callosum. Two patients presented with small cysts in the white matter. The prominent metabolicabnormality detected by proton MRS in five patients was a reduction in N-acetylaspartate in white matter by more than 20%, indicating loss of vital neuroaxonal tissue. Further findings in white matter were glutamine and gamma-aminobutyrate increases by a factor of 2. One patientwith type III CDG syndrome showed the most severe alterations of metabolite concentrations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 10:34:02