LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL ABNORMALITIES IN CHILDREN WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

被引:21
作者
HOLZBACH, U
HANEFELD, F
HELMS, G
HANICKE, W
FRAHM, J
机构
[1] UNIV GOTTINGEN,KINDERKLIN,SCHWERPUNKT NEUROPADIAT,D-37075 GOTTINGEN,GERMANY
[2] MAX PLANCK INST BIOPHYS CHEM,BIOMED NMR FORSCH GMBH,GOTTINGEN,GERMANY
关键词
CDG SYNDROME; CEREBELLAR ATROPHY; MAGNETIC RESONANCE IMAGING; PROTON MAGNETIC RESONANCE SPECTROSCOPY;
D O I
10.1111/j.1651-2227.1995.tb13756.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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 metabolic abnormality 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 patient with type III CDG syndrome showed the most severe alterations of metabolite concentrations.
引用
收藏
页码:781 / 786
页数:6
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