Progressive encephalomyelitis with rigidity and myoclonus: a case report
10.3760/cma.j.cn113694-20230111-00021
- VernacularTitle:伴强直及肌阵挛的进行性脑脊髓炎1例
- Author:
Yanan ZHAO
1
;
Weiwen WU
;
Guodong FENG
;
Shuai WU
;
Lirong JIN
;
Xin WANG
Author Information
1. 复旦大学附属中山医院神经内科，上海200032
- Keywords:
Encephalomyelitis;
Stiff-person syndrome;
Autoimmune diseases of the nervous system;
Glutamate decarboxylase;
Electromyography
- From:
Chinese Journal of Neurology
2023;56(9):1051-1054
- CountryChina
- Language:Chinese
-
Abstract:
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, typeⅠ diabetes 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.
