Objective To detect the cognitive phenotype and structural changes of cerebral gray and white matter in children with Turner syndrome (TS) of different chromosome karyotype by using Wechsler intelligence test and voxel-based morphometry (VBM). Methods Nine 45X karyotype and 11 non 45X karyotype TS girls and 20 age-matched control girls were recruited. Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ). High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data. The analysis of VBM was performed with SPM 8 to compare the volume of gray and white matter between the 45X karyotype and non 45X karyotype of TS children and normal controls by covariance analysis. Results Compared with normal controls, the statistical analysis revealed significant difference of IQ in TS group (P<0.05); significant difference was observed in 45X karyotype TS group in verbal comprehension, perceptual reasoning, working memory and processing speed; and there was significant difference in non 45X karyotype TS group in perceptual reasoning, processing speed (P<0.05). There was significant difference in verbal comprehension between TS groups (P<0.05). Compared with normal controls, 45X karyotype TS children showed significantly decreased volume (P<0.05) in the gray matter of the right superior parietal lobule, postcentral gyrus, precuneus lobule, calcarine, cuneus cortices, and the left middle and inferior occipital lobe. However, the volume of the bilateral supplemental motor area and the medial superior frontal lobes, the right middle cingulum, the left superior, middle, and inferior temporal gyri were increased in the TS children, compared to the controls. The left fusiform, the left parahippocampus, the left hippocampus and the left cerebellum were also significantly enlarged in TS children (P<0.05, FEW-corrected); non 45X karyotype TS children showed significantly decreased volume (P<0.05, FEW-corrected) in the gray matter of both parahip-pocampus, fusiform, insula, hippocampus, putamen, superior temporal gyrus, amygdala, caudate, thalamus , cerebellum and the left lingual. In the white matter regions there was significantly reduced volume in the left postcentral gyrus and inferior parietal lobule , in 45X karyotype TS children (P<0.05, FEW-corrected). In non 45X karyotype TS children, significantly decreased volume (P<0.05, FEW-corrected) was seen in the left superior parietal lobule and precuneus lobule and the superior occipital lobule. Conclusions The IQ of TS children is decreased and accompanied by non-verbal obstacles. There may be verbal obstacles with monosomy TS girls. Abnormal gray and white matter volumes in some brain regions may be involved in the neuropathology of Turner syndrome.%目的 探讨不同核型特纳综合征 (Turner syndrome,TS) 患儿的神经认知功能及脑灰白质体积的异常情况.方法 选择9例染色体核型为45X和11例其他核型的TS患儿及20例正常女童进行韦氏智力测试与3.0 T 磁共振 (MRI) 扫描.全脑高分辨率T1W图像采用SPM 8软件包进行基于体素的形态测量学 (VBM) 分析,以协方差分析比较TS患儿与正常女童之间全脑灰白质体积的差别.结果两组TS患儿的智商均低于正常女童 (P <0.05);45X患儿在言语理解、知觉推理、工作记忆和加工速度项目得分低于正常女童 (P <0.05);其他核型患儿仅知觉推理和加工速度2项得分低于正常女童 (P <0.05).两组TS患儿在言语理解项目得分差异有统计学意义 (P <0.05).MRI扫描发现,45X组患儿右侧顶上小叶、中央后回、楔叶、楔前叶、距状皮层、左侧枕叶中下部灰质体积减小;双侧辅助运动区,额上回内侧,右侧扣带回中部,左侧颞回、额回、小脑、海马、海马旁回、梭状回灰质体积增加;其他核型患儿在双侧海马旁回、梭状回、脑岛、海马、壳核、上颞、杏仁核、尾状核、丘脑、小脑及左侧舌回灰质体积增大.白质体积比较,45X患儿左侧中央后回及顶下小叶减小;其他核型患儿左侧顶上小叶、楔前叶、枕上小叶萎缩,较正常女童差异有统计学意义 (P <0.05).结论 TS患儿智力下降,并伴有非语言的认知障碍;45X患儿可能还伴有语言认知的障碍.脑灰白质发育异常可能是其神经病理学基础.
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