Yamamoto T, Ohnishi A, Miyoshi T, Hashimoto T, Murai Y
Department of Neurology, University of Occupational & Environmental Health.
Rinsho Shinkeigaku. 1994 Jul;34(7):712-6.
A 27-year-old man noticed a tingling sensation in his fingers and toes in early 1982, at the age of 18 years, and his symptom gradually progressed in the following several months. In December 1982, based on neurological and laboratory examinations including the first sural nerve biopsy on the right side, a diagnosis of axonal sensory neuropathy of unknown etiology was made. During the following years, muscle weakness in the distal limbs and hoarseness developed and progressed, and the sensory impairments became gradually evident. On the second neurological examination in July 1991, he showed soft palate palsy and bilateral recurrent nerve palsy. The intrinsic muscles of hands and feet were atrophic, and pes cavus was noted bilaterally. There was mild to moderate weakness in the distal muscles of both limbs. Ankle jerk was absent and other tendon reflexes were decreased in both limbs. A mild to moderate decrease of both superficial and deep sensations with mild paresthesia was noted in both hands and feet. Routine laboratory findings were unremarkable. In blood gas analysis, hypercapnea and respiratory acidosis were found. Spirometry showed an increase of residual volume, and alveolar CO2-pulmonary ventilation response test suggested the presence of primary alveolar hypoventilation caused by hypofunction of the medullary respiratory center. In nerve conduction studies, motor nerve conduction velocities were moderately reduced in bilateral median and ulnar nerves. Distal latencies of M-waves were prolonged in bilateral median nerves. Temporal dispersion of M-wave was found in the left tibial nerve. The amplitudes of sensory action potentials were moderately reduced in bilateral median and sural nerves.(ABSTRACT TRUNCATED AT 250 WORDS)
一名27岁男性于1982年初(18岁时)注意到手指和脚趾有刺痛感,随后数月症状逐渐进展。1982年12月,基于包括右侧首次腓肠神经活检在内的神经学和实验室检查,诊断为病因不明的轴索性感觉神经病。在接下来的几年里,远端肢体肌肉无力和声音嘶哑出现并进展,感觉障碍也逐渐明显。1991年7月的第二次神经学检查显示,他存在软腭麻痹和双侧喉返神经麻痹。手足内在肌萎缩,双侧可见高弓足。双下肢远端肌肉有轻度至中度无力。双侧跟腱反射消失,其他腱反射减弱。双手和双足均有轻度至中度的浅感觉和深感觉减退,并伴有轻度感觉异常。常规实验室检查结果无异常。血气分析发现有高碳酸血症和呼吸性酸中毒。肺功能测定显示残气量增加,肺泡二氧化碳 - 肺通气反应试验提示存在由延髓呼吸中枢功能减退引起的原发性肺泡通气不足。神经传导研究显示,双侧正中神经和尺神经的运动神经传导速度中度降低。双侧正中神经M波的远端潜伏期延长。左侧胫神经发现M波的时限离散。双侧正中神经和腓肠神经的感觉动作电位幅度中度降低。(摘要截断于250字)