DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY

被引:130
作者
HANEFELD, F [1 ]
HOLZBACH, U [1 ]
KRUSE, B [1 ]
WILICHOWSKI, E [1 ]
CHRISTEN, HJ [1 ]
FRAHM, J [1 ]
机构
[1] MAX PLANCK INST BIOPHYS CHEM,BIOMED NMR GMBH,W-3400 GOTTINGEN,GERMANY
关键词
PROGRESSIVE LEUKOENCEPHALOPATHY; AUTOSOMAL RECESSIVE; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY;
D O I
10.1055/s-2008-1071551
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Amongst 21 children with unclassified white matter diseases three patients could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) findings as a probably distinct entity. Following a normal early development they later showed rapidly progressive motor symptoms (ataxia, spasticity) leading to severe handicap within one or two years after onset. Later on bulbar symptoms, optic atrophy and epileptic seizures occurred. The MRI showed a diffuse homogenous hypodensity of the white matter almost identical to the signal of the ventricles. MRS revealed a near total absence of N-acetylaspartate, choline and creatine and an increase of lactate and glucose. One girl and one boy were siblings, indicating an autosomal recessive trait.
引用
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页码:244 / 248
页数:5
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