Leigh综合征的氢质子磁共振波谱研究

The Study of^1H-MRS Features of Leigh Syndrome

目的探讨线粒体脑肌病Leigh综合征的氢质子磁共振波谱(1H-MRS)表现及其临床意义,为临床早期诊断和治疗提供帮助。资料与方法对32例Leigh综合征患者和38名正常对照者行2D-MRS检查和常规MRI检查,比较病例组中苍白球、丘脑区域的MRI阳性、MRI阳性病例及正常对照组相应区域代谢物胆碱/肌酸(Cho/Cr)、N-乙酰天门冬氨酸/肌酸(NAA/Cr)、乳酸/肌酸(Lac/Cr)、肌醇/肌酸(mI/Cr)比值的差异。结果24例(75%)患儿脑内出现异常信号,其中15例深部灰质核团受累,13例累及白质,8例有不同程度的脑萎缩。苍白球、丘脑区域MRI阳性组NAA/Cr比值明显低于MRI阴性组(P<0.01)及对照组(P<0.01);而MRI阳性组Lac/Cr比值较MRI阴性组和对照组明显升高(P<0.01);MRI阴性组的苍白球区可探及Cho/Cr明显升高(P=0.019)和丘脑区的NAA/Cr减低(P=0.044)。丘脑区域mI/Cr比值MRI阳性组较正常对照组明显升高(P=0.002)。结论Leigh综合征典型的MRI改变对临床诊断和鉴别具有重要辅助作用。1H-MRS显示MRI异常组较MRI阴性组的NAA/Cr下降和Lac/Cr升高更明显,提示神经损害更严重,有助于监测病情发展。1H-MRS可先于MRI发现脑内病变,为家系性病例的临床监控和早期干预提供帮助。

Objective To explore the imaging features and clinical application of ^1 H-MRS in Leigh syndrome. Materials and Methods i H-MRS and conventional MRI were performed in 32 patients with Leigh syndrome and 38 normal controls. The images were reviewed to detect the abnormalities in the brain. The ratios of Cho/Cr,NAA/Cr,Lac/Cr,and MI/Cr were measured for comparison among the patients with MR abnormalities, patients without MR abnormalities and controls. Results 24 patients with Leigh syndrome presented abnormal signal in the brain on conventional MRI. The deep nuclei were involved in 15 patients and the white matter was involved in 13 patients. Significant increase of Lac/Cr and decrease of NAA/Cr were found in the ROIs of pallidus globi and thalami of patients with Leigh syndrome. The ratio of NAA/Cr is less in patients than in controls （ P 〈 0.01 ）, the ratio of Lac/Cr is higher in patients than in controls （ P 〈 0.01 ）, and the ratios of mI/Cr are also higher in patients than in controls （P 〈 0.01 ）. These ratios were also different between the patients with detectable lesions and the patients without detectable lesions. Conclusion The typical findings on MRI can provide diagnostic information of Leigh syndrome. The metabolic ratios can be the indications of impaired mitochondrial function in the brain.