Lee S, Park Y D, Yen S H, Ksiezak-Reding H, Goldman J E, Dickson D W
Department of Pathology (Neuropathology), Albert Einstein College of Medicine, Bronx, New York 10461.
Neuropediatrics. 1989 May;20(2):107-11. doi: 10.1055/s-2008-1071275.
We report a patient with infantile motor neuron disease who had pathologic findings consistent with multisystem degeneration. Although the muscle showed denervation atrophy and spinal anterior horn cells showed either atrophy or ballooning degeneration consistent with lower motor neuron disease, the infant was hypertonic and spastic. Degenerative changes were also detected in the dorsal root ganglia, cerebellum, and thalamus. Immunohistochemical studies showed a paucity of neurofilament (NF) staining in the corticospinal tract and accumulation of phosphorylated NF in ballooned neurons. Antibodies to ubiquitin immunostained ballooned neurons in the dorsal root ganglia, anterior horns, and thalamus. Accumulation of ubiquitinated and phosphorylated NF epitopes in degenerating neurons suggest that basic abnormalities in the neuronal cytoskeleton may be instrumental in the pathogenesis of this disorder.
我们报告了一名患有婴儿型运动神经元病的患者，其病理结果与多系统变性一致。尽管肌肉表现为失神经萎缩，脊髓前角细胞表现出与下运动神经元病相符的萎缩或气球样变性，但该婴儿肌张力亢进且痉挛。在背根神经节、小脑和丘脑也检测到了退行性改变。免疫组织化学研究显示皮质脊髓束中神经丝（NF）染色稀少，气球样神经元中有磷酸化NF积聚。泛素抗体对背根神经节、前角和丘脑中的气球样神经元进行免疫染色。在退化神经元中泛素化和磷酸化NF表位的积聚表明，神经元细胞骨架的基本异常可能在该疾病的发病机制中起作用。
