Vital A, Barat M, Lagueny A, Latour P, Vital C
Department of Neuropathology, Victor Segalen University, Bordeaux II, France.
Muscle Nerve. 1999 Aug;22(8):1139-45. doi: 10.1002/(sici)1097-4598(199908)22:8<1139::aid-mus22>3.0.co;2-x.
A female patient was 12 years old when she presented with hemiatrophy and muscle weakness on the right side of her body. Then a stepwise worsening occurred, and at 19 years of age sensory symptoms were also noticed, as well as a mild involvement of the left part of her body. The cerebrospinal fluid (CSF) protein level was elevated without cells. The main electrophysiological abnormality was a marked temporal dispersion of the compound muscle action potentials (CMAPs). Motor nerve conduction velocities were moderately reduced. A superficial peroneal nerve biopsy revealed well-demarcated areas of demyelination with prominent Schwann cell hyperplasia. Neither deletion nor duplication of the PMP22 gene nor mutation of the P0 or connexin 32 genes was found by molecular genetic investigations. Immunotherapy was administered, and over the next 6 years the symptomatology fluctuated. This unusual disorder seems to be a variant of chronic acquired demyelinating polyneuropathy and may be immunologically mediated.
一名女性患者12岁时出现身体右侧半身萎缩和肌肉无力。随后病情逐步恶化，19岁时出现感觉症状，左侧身体也有轻度受累。脑脊液（CSF）蛋白水平升高但无细胞。主要的电生理异常是复合肌肉动作电位（CMAP）明显的时间离散。运动神经传导速度中度降低。腓浅神经活检显示有界限清楚的脱髓鞘区域，伴有明显的施万细胞增生。分子遗传学研究未发现PMP22基因的缺失或重复，也未发现P0或连接蛋白32基因的突变。给予免疫治疗，在接下来的6年里症状波动。这种不寻常的疾病似乎是慢性获得性脱髓鞘性多发性神经病的一种变异型，可能由免疫介导。
