Abstract:

Objective  To observe the white matter and gray matter impairment of Duchenne muscular dstrophy (DMD) patients with diffusion tensor imaging (DTI).  Methods Forteen male patients with DMD (6-11 years old) and 10 age-matched healthy boys participated into this study. All patients' diagnosis was based on typical signs and symptoms, serum creatine kinase (CK), electromyography, multiplex ligation-dependent probe amplification (MLPA) for DMD gene test and muscle biopsy results. All participants were scanned by DTI. The fractional anisotropy (FA) values of regions of interest (ROIs), including bilateral parietal lobe white matter, bilateral frontal lobe white matter, genu of corpus callosum, splenium of corpus callosum, bilateral caput nuclei caudati, bilateral anterior cingulate gyrus, bilateral cingulate gyrus, bilateral posterior cingulate gyrus, bilateral lenticular nucleus, bilateral anterior limb of internal capsule, bilateral posterior limb of internal capsule, bilateral thalamus, bilateral occipital lobe white matter, bilateral temporal lobe white matter, bilateral hippocampus, bilateral superior cerebellar peduncle and bilateral middle cerebellar peduncle, were measured. The data was analyzed and compared between control group and DMD group.  Results  Compared with control group, the FA value of splenium of corpus callosum in DMD group was significantly reduced (t = -2.187, P = 0.045). No significant difference was found in FA values of other ROIs between 2 groups (P > 0.05, for all).  Conclusions  It is found in China for the first time that DMD patients had microstructural changes in splenium of corpus callosum. However, the correlation between this change and cognitive changes of DMD patients remains to be further studied.

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摘要：

目的 通过扩散张量成像（DTI）观察Duchenne 型肌营养不良症患儿脑结构和功能改变。方法 共14 例Duchenne 型肌营养不良症患儿均行DTI检查，以双侧顶叶白质、额叶白质、胼胝体膝部和压部、尾状核头、扣带前回、扣带中回、扣带后回、豆状核、内囊前肢和后肢、丘脑、枕叶白质、颞叶白质、海马、小脑上脚和小脑中脚等脑区为兴趣区，测定各兴趣区部分各向异性（FA）值。结果 与正常对照者相比，Duchenne 型肌营养不良症患儿仅胼胝体压部FA 值降低（t = -2.187，P = 0.045），其余脑区FA 值组间差异均无统计学意义（P > 0.05）。结论 Duchenne 型肌营养不良症患儿胼胝体压部存在微细结构改变，然而，其与Duchenne型肌营养不良症患儿认知功能改变之间的相关性尚待进一步研究。

关键词: 肌营养不良, 杜氏, 磁共振成像