孪生兄弟患肾上腺脑白质营养不良的临床、影像学和病理特征

Clinical,imaging and pathological characteristics of twin brothers with adrenoleukodystrophy

目的探讨孪生兄弟患肾上腺脑白质营养不良(ALD)的临床、影像学及病理特征。方法回顾性分析2例同患ALD孪生兄弟的临床资料及1例(兄)脑病理检查资料。结果1例(兄)临床表现为脑型ALD,其头部MRI示枕顶叶白质及胼胝体后部广泛性T1WI低信号,而T2WI为高信号;病理改变为顶枕叶白质弥散性脱髓鞘病变,但皮质下U形纤维完整。而另1例(弟)则表现为以脊髓损害为主,头部MRI未见异常;脊髓MRI示脊髓变细,周边见线条状等信号;为青少年肾上腺脊髓神经病变型。结论即使孪生兄弟同患ALD,其临床表现与影像学所见及病理改变也可完全不同。

Objective To explore clinic, imageology and pathological characteristics of twin brothers with adrenoleukodystrophy（ADL）. Methods Clinical data of twin brothers with ALD and pathological data of one case were analyzed retrospectively. Results Clinical manitestation of elder brother was cerebral ADL T1 -weighted of MRI with low intensity lesion and T2-weighted with high intensity lesion were shown widely in the parietooccipital and pestero-corpus callosum white matter. The pathological changes were myelinopethy diffused in the parietooccipital white matter, but U fibber was maintained in the subcortex. Clinical manitestation of the young brother was shown spinal damage. His cerebral MRI was normal. Spinal MRI had shown spinal cord thinning, line-like equal signal was found in the periphery of the lesion. He might be juvenile adrenomyeloneuropathy. Conclusions Although the twin brothers are both suffer from adrenoleukodystrophy, their clinical manifestation, MRI and pathological changes are different.