Clinical, MR imaging and MR spectroscopy findings in Cohen syndrome. A case report

被引：0
|
作者：
Bulakbasi, N [1 ]
Ilkbahar, S [1 ]
Kocaoglu, M [1 ]
机构：
[1] Gulhane Mil Med Acad, Dept Radiol, TR-06018 Ankara, Turkey
来源：
RIVISTA DI NEURORADIOLOGIA | 2005年 / 18卷 / 01期
关键词：
cohen syndrome; MR imaging; MR spectroscopy; diffusion weighted imaging;
D O I：
10.1177/197140090501800114
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
We describe a 20-year-old, non-Finnish man with Cohen syndrome (MIM: 216550). Besides the essential clinical and MR imaging findings including non-progressive psychomotor retardation, motor clumsiness, microcephaly, typical facial features, retinochoroidal dystrophy, myopia and thick corpus callosum, he also had infertility, pituitary hyperplasia and low-lying tentorium. No diffusion changes were recorded. MR spectroscopy (40 and 270 ins TE) revealed normal spectra.
引用
收藏
页码：82 / 86
页数：5
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