伴有肌纤蛋白缺乏的先天性肌营养不良：1H磁共振波谱成像和扩散加权磁共振成像
Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging.
作者信息
Leite Claudia C, Reed Umbertina C, Otaduy Maria C G, Lacerda Maria T C, Costa Maria O R, Ferreira Lúcio G, Carvalho Mary S, Resende Maria B D, Marie Suely K N, Cerri Giovanni G
机构信息
Clinics Hospital of the University of São Paulo, Rua Mário Amaral 81, São Paulo, SP 040020-020, Brazil.
出版信息
Radiology. 2005 Apr;235(1):190-6. doi: 10.1148/radiol.2351031963. Epub 2005 Feb 9.
PURPOSE
To prospectively use hydrogen 1 ((1)H) magnetic resonance (MR) spectroscopy and apparent diffusion coefficient (ADC) maps to try to explain the discrepancy between the extensive white matter (WM) abnormalities observed at MR imaging and the relatively mild neurocognitive decline in patients with merosin-deficient congenital muscular dystrophy (CMD).
MATERIALS AND METHODS
The hospital ethics committee approved this study, and informed consent was obtained. Nine patients (five boys, four girls; age range, 3-9 years; mean, 6 years +/- 2 [standard deviation]) with merosin-deficient CMD underwent T1-weighted, T2-weighted, fluid-attenuated inversion recovery, and diffusion-weighted MR imaging and (1)H MR spectroscopy, which was performed in the parieto-occipital WM (POWM) and frontal WM (FWM) by using stimulated-echo acquisition mode. Metabolite (N-acetylaspartate [NAA], choline-containing compounds [Cho], and myo-inositol [mI]) ratios were calculated in relation to creatine/phosphocreatine (Cr) and water (H(2)O). NAA/Cho was also calculated. ADCs were calculated in approximately the same locations that were studied with spectroscopy. For comparison, (1)H MR spectroscopy (n = 10) and ADC mapping (n = 7) were also performed in 10 healthy age- and sex-matched control subjects (three boys, seven girls; age range, 4-9 years; mean, 6 years +/- 1). Statistical analysis involved the t test for comparison between different groups; correlation between ADC and spectroscopy results was studied with the Pearson test.
RESULTS
MR imaging revealed evidence of bilateral WM involvement in all patients. Whereas their NAA/Cr and Cho/Cr were normal, their mI/Cr was slightly increased compared with that in control subjects (P = .03 in FWM and P = .07 in POWM), and their NAA/Cho was decreased in POWM (P = .03). NAA/H(2)O, Cr/H(2)O, Cho/H(2)O, and mI/H(2)O were considerably decreased (P < .05 for all) and ADC values were increased (P < .001) in WM in all patients versus these values in WM in control subjects. There was significant correlation between ADC values and metabolite/water ratios (r = -0.777 to -0.967, P < .05).
CONCLUSION
ADC mapping and (1)H MR spectroscopy reveal abnormally high free-water concentrations in the WM of patients with merosin-deficient CMD.
目的
前瞻性地使用氢1（（1）H）磁共振（MR）波谱和表观扩散系数（ADC）图，以试图解释在肌膜蛋白缺陷型先天性肌营养不良（CMD）患者中，MR成像观察到的广泛白质（WM）异常与相对较轻的神经认知功能下降之间的差异。
材料与方法
医院伦理委员会批准了本研究，并获得了知情同意。9例肌膜蛋白缺陷型CMD患者（5例男孩，4例女孩；年龄范围3 - 9岁；平均6岁±2[标准差]）接受了T1加权、T2加权、液体衰减反转恢复和扩散加权MR成像以及（1）H MR波谱检查，采用刺激回波采集模式在顶枕白质（POWM）和额叶白质（FWM）进行。计算代谢物（N - 乙酰天门冬氨酸[NAA]、含胆碱化合物[Cho]和肌醇[mI]）与肌酸/磷酸肌酸（Cr）和水（H₂O）的比值。还计算了NAA/Cho。在与波谱检查大致相同的位置计算ADC值。为作比较，还对10名年龄和性别匹配的健康对照者（3例男孩，7例女孩；年龄范围4 - 9岁；平均6岁±1）进行了（1）H MR波谱检查（n = 10）和ADC图绘制（n = 7）。统计分析采用t检验比较不同组之间的差异；用Pearson检验研究ADC与波谱结果之间的相关性。
结果
MR成像显示所有患者均有双侧WM受累的证据。虽然他们的NAA/Cr和Cho/Cr正常，但与对照者相比，他们的mI/Cr略有升高（FWM中P = 0.03，POWM中P = 0.07），且POWM中的NAA/Cho降低（P = 0.03）。与对照者WM中的这些值相比，所有患者WM中的NAA/H₂O、Cr/H₂O、Cho/H₂O和mI/H₂O均显著降低（均P < 0.05），ADC值升高（P < 0.001）。ADC值与代谢物/水比值之间存在显著相关性（r = -0.777至 -0.967，P < 0.05）。
结论
ADC图绘制和（1）H MR波谱显示肌膜蛋白缺陷型CMD患者WM中存在异常高的自由水浓度。
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