CEREBRAL MRI IN 2 BROTHERS WITH MUCOPOLYSACCHARIDOSIS TYPE-I AND DIFFERENT CLINICAL PHENOTYPES

被引:14
作者
GABRIELLI, O
SALVOLINI, U
MARICOTTI, M
MARIANI, MG
COPPA, GV
GIORGI, PL
机构
[1] UNIV ANCONA,DEPT NEURORADIOL,I-60123 ANCONA,ITALY
[2] UNIV ANCONA,DEPT NEUROL,I-60123 ANCONA,ITALY
关键词
CEREBRAL MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; MUCOPOLYSACCHARIDOSES; ALPHA-L-IDURONIDASE DEFICIENCY;
D O I
10.1007/BF00588189
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We describe a cerebral MRI study of two brothers with mucopolysaccharidosis type I. They are of similar physical appearance, but the younger is severely mentally retarded while the elder is of normal intelligence. MRI shows characteristic abnormalities in the CNS, but it is not yet possible to establish a correlation between them and the mental retardation.
引用
收藏
页码:313 / 315
页数:3
相关论文
共 17 条
[1]  
CROME L, 1972, PATHOLOGY MENTAL RET, P320
[2]   MUCOPOLYSACCHARIDOSIS TYPES-1, TYPE-2, TYPE-3A AND TYPE-5 - PATHOLOGICAL AND BIOCHEMICAL ABNORMALITIES IN NEURAL AND MESENCHYMAL ELEMENTS OF BRAIN [J].
DEKABAN, AS ;
CONSTANTOPOULOS, G .
ACTA NEUROPATHOLOGICA, 1977, 39 (01) :1-7
[3]  
JOHNSON MA, 1984, AM J NEURORADIOL, V5, P816
[4]  
KURKANI MV, 1987, MAGN RESON IMAGING, V5, P317
[5]  
LUDWIGK B, 1987, AJNR, V4, P431
[6]  
MCKUSICK VA, 1972, LANCET, V1, P993
[7]  
MURATA R, 1989, AM J NEURORADIOL, V10, P1165
[8]   THE VALUE OF COMPUTED-TOMOGRAPHY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS [J].
NELSON, J ;
GREBBELL, FS .
NEURORADIOLOGY, 1987, 29 (06) :544-549
[9]  
Neufeld EF, 1989, METABOLIC BASIS INHE, P1565
[10]   DISTORTION OF NEURONAL GEOMETRY AND FORMATION OF ABERRANT SYNAPSES IN NEURONAL STORAGE DISEASE [J].
PURPURA, DP ;
SUZUKI, K .
BRAIN RESEARCH, 1976, 116 (01) :1-21