Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?
复制标题
婴儿神经轴突营养不良和巨大轴突神经病——儿童时期神经元细胞骨架元件的重叠疾病？
作者：
A. Mahadevan;V. Santosh;N. Gayatri;E. Ratnavalli;R. Nandagopal;A. Vasanth;A. Roy;S. Shankar
巨大轴突神经病（GAN）和婴儿神经轴突营养不良（INAD）是两种儿童期进行性神经退行性疾病，具有相当大的临床和组织学重叠，但被认为在超微结构上是不同的。本文描述了3例INAD的临床病理和超微结构特征，其中2例为兄弟姐妹，1例为GAN。所有四例的腓肠神经活检在光镜上基本相似，显示巨大的轴突。在电子显微镜下，GAN的发现是典型的，在巨大的轴突内神经丝密集堆积。在三例INAD病例中，除了线粒体和具有囊管轮廓的细胞器的积累外，神经丝的类似增加也很明显。因此，我们认为这两种疾病可能代表了中间纤维病理进化的光谱，各种细胞器参与了疾病过程的时间进化。
Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.