A case of Sjogren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

被引:8
作者
Tachibana, Yasuhiko [1 ]
Aida, Noriko [1 ]
Enomoto, Keisuke [2 ]
Iai, Mizue [3 ]
Kurosawa, Kenji [2 ]
机构
[1] Kanagawa Childrens Med Ctr, Dept Radiol, Minami Ku, Yokohama, Kanagawa 2328555, Japan
[2] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
[3] Kanagawa Childrens Med Ctr, Dept Neurol, Yokohama, Kanagawa, Japan
关键词
Sjogren-Larsson syndrome; MR spectroscopy; Lipids; Molecular study;
D O I
10.1007/s00247-011-2156-6
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We present a 5-year-old girl who was ultimately diagnosed with Sjogren-Larsson syndrome (SLS). Although her MRI findings were minimal compared to previously published cases, prominent and characteristic abnormal lipid peaks on single-voxel proton MR spectroscopy (H-1-MRS) facilitated the diagnosis. This case emphasizes the importance and usefulness of H-1-MRS in diagnosing SLS.
引用
收藏
页码:380 / 382
页数:3
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