Mizutani T, Aki M, Shiozawa R, Unakami M, Nozawa T, Yajima K, Tanabe H, Hara M
Department of Neurology, Toranomon Hospital, Tokyo, Japan.
J Neurol Sci. 1990 Nov;99(2-3):311-9. doi: 10.1016/0022-510x(90)90165-j.
Patients with amyotrophic lateral sclerosis (ALS), who survive longer on a life-support system, exceeding the natural course of this disease, show new features of ALS. We report here a clinico-pathologic study of a 51-year-old patient with sporadic ALS who developed progressive external ophthalmoplegia 3 years after he remained on a respirator and died 5 years later, 13 years after the onset of his illness. The external ophthalmoplegia was initially accompanied by preserved doll's eye phenomenon, which later became absent. Autopsy revealed not only degeneration of the upper and lower motor neuron systems typical of ALS, but also degeneration of the Clarke's dorsal nuclei, spinocerebellar tracts, substantia nigra and inferior olives in addition to intracytoplasmic neuronal inclusion bodies in various areas. The oculomotor and abducens nuclei were variably involved, accompanied by neurogenic atrophy of the extraocular muscles. Our case report is consistent with the idea that ALS comprises a heterogeneous group of disorders, and also indicates that long-term use of respirators may make some patients with this illness prone to developing atypical clinical and neuropathologic features which are not observed during the natural course of ALS.
肌萎缩侧索硬化症（ALS）患者若依靠生命维持系统存活更长时间，超过了该疾病的自然病程，会呈现出ALS的新特征。我们在此报告一项对一名51岁散发性ALS患者的临床病理研究。该患者在使用呼吸机3年后出现进行性眼外肌麻痹，并于发病13年后、使用呼吸机5年后死亡。眼外肌麻痹最初伴有保留的玩偶眼现象，该现象后来消失。尸检不仅发现了ALS典型的上下运动神经元系统变性，还发现了克拉克背核、脊髓小脑束、黑质和下橄榄核的变性，以及各个区域的胞质内神经元包涵体。动眼神经核和展神经核不同程度受累，伴有眼外肌神经源性萎缩。我们的病例报告支持ALS是一组异质性疾病的观点，同时也表明长期使用呼吸机可能使一些ALS患者易于出现ALS自然病程中未观察到的非典型临床和神经病理特征。
