比较单体型特纳综合征与正常儿童全脑白质各向异性

Comparison on whole brain anisotropy of patients with Turner syndrome and normal children

目的 采用DTI观察特纳综合征（TS）患者脑白质异常，探讨TS白质异常与认知功能障碍的关系。方法 选择基因型为45，XO单体型TS的患者14例为TS组，另招募20名年龄为10~18岁的女性志愿者为对照组，进行韦氏智力检验。采用Siemens 3.0 T磁共振扫描仪及8通道头线圈，对两组行DTI扫描，并经后处理生成FA图，然后进行TS组和对照组的基于体素的FA比较。结果 TS组知觉推理智商值为84.4±15.1，低于对照组（103.4±13.4；t=3.8，P〈0.05）；在言语理解方面智商值为100.7±20.3，低于对照组（117.2±14.1；t=2.8，P〈0.05）；在加工速度方面智商值为83.6±12.1，低于对照组（103.8±16.1；t=4.0，P〈0.05）；在工作记忆方面智商值为87.2±16.9，低于对照组（101.7±15.7；t=2.6，P〈0.05）。PS组左侧额叶白质、右侧顶叶白质、胼胝体压部、双侧内囊、双侧大脑脚和双侧小脑FA值显著低于对照组。结论 TS患者左侧额叶纹状体通路、右侧上纵束通路及胼胝体圧部FA值减低可能与视觉空间感觉及相关执行能力减低有关；双侧内囊、大脑脚和小脑局部FA值减低可能与运动异常有关。

Objective To investigate the relation of abnormal white matter and the impaired cognitive ability in Turner syndrome （TS）. Methods Fourteen TS patients of 45,XO karyotype and 20 female healthy volunteers （aged 10—18 years） were enrolled. All imaging data were acquired on a Siemens 3.0 T whole-body MR system. Wechsler intelligence scale for children was used to obtain intelligence quotients. Whole brain DTI sequence was employed for each subject. FA map was generated on workstation, and the data were transferred to PC to be normalized using SPM 5. FA values voxel to voxel between the two groups were compared. Results The perceptual reasoning index of TS was 84.4±15.1, of the controls was 103.4±13.4 （t=3.8, P〈0.05）. The verbal comprehension index of TS was 100.7±20.3, of the controls was 117.2±14.1 （t=2.8, P〈0.05）.The processing speed index of TS was 83.6±12.1, of the controls was 103.8±16.1 （t=4.0, P〈0.05）. The working memory index of TS was 87.2±16.9, of the controls was 101.7±15.7 （t=2.6, P〈0.05）. Females with TS had lower FA values in the white matter of the left frontal lobe, right parietal lobe and splenium of callosum. In addition, decreased FA values located bilaterally in the internal capsule, cerebral peduncle and cerebellum. Conclusion TS patients were found with significantly decreased FA of multiple fiber tracts such as the left frontostriatal circuitry, the right superior longitudinal fasciculus and splenium of callosum, which may be relative to visuospatial abilities and executive functioning deficits. Decreased FA values in bilateral internal capsule, cerebral peduncle and cerebellum may have correlation with abnormality of motor functioning.