Mackay M T, Kornberg A J, Shield L, Phelan E, Kean M J, Coleman L T, Dennett X
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.
J Child Neurol. 1998 Oct;13(10):481-7. doi: 10.1177/088307389801301003.
The congenital muscular dystrophies are a heterogeneous, recessively inherited group of disorders that have been subclassified on the basis of clinical central nervous system involvement. We report two children with "pure" congenital muscular dystrophy, one merosin negative and one merosin positive with extensive white matter and occipital cortical neuromigration abnormalities on magnetic resonance imaging (MRI). The first patient (merosin-negative congenital muscular dystrophy) presented with hypotonia and weakness in the neonatal period and subsequently was found to have a leukoencephalopathy and occipital cortical dysplasia on magnetic resonance imaging. The second patient presented with developmental delay without definite weakness. Initial investigations revealed a leukoencephalopathy and cortical dysplasia, but the patient subsequently was shown to have merosin-positive congenital muscular dystrophy. These patients illustrate that white-matter changes are not specific for merosin-negative congenital muscular dystrophy alone and that extensive cortical abnormality can be found in both groups of patients. In addition, our second patient illustrates a nonmuscular mode of congenital muscular dystrophy presentation that should be considered in patients with a "nonprogressive leukodystrophy."
先天性肌营养不良是一组异质性、隐性遗传的疾病，已根据临床中枢神经系统受累情况进行了亚分类。我们报告了两名患有“单纯性”先天性肌营养不良的儿童，一名为抗肌萎缩蛋白聚糖阴性，另一名为抗肌萎缩蛋白聚糖阳性，磁共振成像（MRI）显示有广泛的白质和枕叶皮质神经移行异常。第一名患者（抗肌萎缩蛋白聚糖阴性先天性肌营养不良）在新生儿期出现肌张力低下和肌无力，随后磁共振成像发现患有白质脑病和枕叶皮质发育异常。第二名患者表现为发育迟缓但无明确的肌无力。初步检查发现有白质脑病和皮质发育异常，但该患者随后被证实患有抗肌萎缩蛋白聚糖阳性先天性肌营养不良。这些患者表明，白质改变并非仅抗肌萎缩蛋白聚糖阴性先天性肌营养不良所特有，两组患者均可发现广泛的皮质异常。此外，我们的第二名患者说明了先天性肌营养不良的一种非肌肉表现模式，对于患有“非进行性白质营养不良”的患者应予以考虑。
