Schmitt H P
Neuropediatrics. 1981 Feb;12(1):83-91. doi: 10.1055/s-2008-1059642.
Skeletal muscles and peripheral nerves obtained at autopsy from a fifteen-year-old boy who had mucopolysaccharidosis type II (Hunter) were examined. The muscles showed severe neurogenic atrophy, chiefly from a distal motor neuropathy due to damage of the intramuscular nerve terminals. There was only a very slight loss of motor neurons in the spinal cord, which itself could not explain the severe atrophy of the muscles. Contrary to former observations in Tay-Sachs disease, in which the telodendra of peripheral nerves had exhibited abundant intraaxonal storage phenomena, similar axonal distensions were not found in the present case.
对一名患有II型粘多糖贮积症（亨特氏病）的15岁男孩尸检时获取的骨骼肌和周围神经进行了检查。肌肉显示出严重的神经源性萎缩，主要是由于肌内神经末梢受损导致的远端运动神经病所致。脊髓中的运动神经元仅有非常轻微的损失，这本身无法解释肌肉的严重萎缩。与之前在泰-萨克斯病中的观察结果相反，在泰-萨克斯病中周围神经的终树突表现出丰富的轴突内储存现象，而在本病例中未发现类似的轴突扩张。
