伴强直及肌阵挛的进行性脑脊髓炎1例

Progressive encephalomyelitis with rigidity and myoclonus:a case report

伴强直及肌阵挛的进行性脑脊髓炎(PERM)是僵人综合征的特殊亚型,临床罕见且诊断困难。本文报道1例PERM病例,患者为66岁女性,病程波动进展,以面部肌张力增高、头颈部瘙痒、延髓受累症候群及双下肢僵直为主要临床表现,血清及脑脊液抗谷氨酸脱羧酶抗体阳性,肌电图见安静状态躯干及四肢近端肌大量运动单位电位持续发放,痉挛发作时明显增强,符合僵人综合征的肌电表现。本例患者最终诊断为PERM,经丙种球蛋白及激素冲击等免疫治疗效果良好。PERM是临床罕见的神经系统自身免疫病,早期症状不典型,易漏诊误诊,需提高认识以免延误诊断。

Progressive encephalomyelitis with rigidity and myoclonus(PERM)is a specific subtype of the stiff-person syndrome,which is rare and difficult to diagnose clinically.A case of PERM in a 66-year-old female with a fluctuating progressive course was reported in this article.She had increased facial muscle tone,pruritus and sensory hypersensitivity mainly in the head and neck,medullary involvement syndrome and bilateral lower limb rigidity as the main clinical manifestations,and a previous history of pulmonary malignancy,thymoma,typeⅠdiabetes and Hashimoto′s thyroiditis.The patient′s serum and cerebrospinal fluid were positive for anti-glutamic acid decarboxylase antibody.The electromyogram showed a large number of motor unit potentials in the trunk and proximal extremities in the quiet state,which were significantly enhanced during spastic episodes,consistent with the electromyographic manifestations of stiff-person syndrome.The final diagnosis was PERM,and immunotherapy including gamma globulin and hormone responded well.PERM is a rare neurological autoimmune disease with atypical early symptoms,which can be easily misdiagnosed,and it requires attention to avoid delaying the diagnosis.