以神经系统损伤为首发症状的2例原发性干燥综合征报道

doi:10.3969/j.issn.1674-8115.2024.06.016

上海交通大学学报（医学版） ›› 2024, Vol. 44 ›› Issue (6): 795-800.doi: 10.3969/j.issn.1674-8115.2024.06.016

• 短篇论著 • 上一篇

以神经系统损伤为首发症状的2例原发性干燥综合征报道

姚莉¹^,²(), 田沃土²^,³, 曹立¹^,²^,³()

^1.安徽医科大学附属宿州医院神经内科，宿州 234000
^2.上海交通大学医学院附属第六人民医院神经内科，上海 200233
^3.上海市神经系统罕见疾病生物样本库和精准诊断专业技术服务平台，上海 200233

收稿日期:2023-12-15 接受日期:2024-03-05 出版日期:2024-06-28 发布日期:2024-06-28
通讯作者: 曹立 E-mail:yaoli@rjlab.cn;caoli2000@yeah.net
作者简介:姚莉（1996—），女，硕士生；电子信箱：yaoli@rjlab.cn。
基金资助:
国家自然科学基金(82201398);中国博士后科学基金(2022M712117);上海市浦江人才计划(22PJD052);上海交通大学医学院附属第六人民医院基础科学研究青年学者培养项目(YNQN202224)

Two cases of primary Sjögren's syndrome with neurological impairment as initial symptom

YAO Li¹^,²(), TIAN Wotu²^,³, CAO Li¹^,²^,³()

^1.Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou 234000, China
^2.Department of Neurology, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China
^3.Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai 200233, China

Received:2023-12-15 Accepted:2024-03-05 Online:2024-06-28 Published:2024-06-28
Contact: CAO Li E-mail:yaoli@rjlab.cn;caoli2000@yeah.net
Supported by:
National Natural Science Foundation of China(82201398);China Postdoctoral Science Foundation Project(2022M712117);Shanghai Pujiang Program(22PJD052);Young Scholar Cultivation Project of Basic Scientific Research in Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine(YNQN202224)

摘要/Abstract

摘要：

目的·总结以神经系统损伤为首发症状的2例原发性干燥综合征（primary Sj?gren's syndrome，pSS）患者的临床特点并复习相关文献。方法·对以神经系统受累为首发症状的2例pSS患者的临床表现、实验室检查结果、影像学检查结果、唇腺活检结果、治疗效果等进行总结和分析。结果·病例1，女性，自50岁起出现进行性行走不稳伴下肢远端感觉障碍，表现为痉挛步态、感觉性共济失调、传导束性感觉障碍和二便障碍；58岁起无法独立行走。实验室检查提示抗核抗体阳性（1∶1 000着丝点型），抗干燥综合征抗原A（SSA）/Ro-52抗体、抗SSA/Ro-60抗体、抗着丝点抗体阳性；唇腺活检可见唾液腺组织、导管间及小叶内淋巴细胞浸润灶2个/4 mm²（淋巴细胞>50个）。头颅磁共振成像可见“蛇眼征”；肌电图显示右侧腓神经运动纤维轴索损伤。在院期间予以大剂量糖皮质激素冲击、联合免疫抑制剂治疗后明显好转。3个月后可推助行器行走，日常生活基本自理。病例2，女性，自81岁起出现颈部不自主右斜，既往有轻度口干、眼干、伴膝关节疼痛1年。实验室检查提示抗SSA/Ro-52抗体、抗SSA/Ro-60抗体阳性，血红蛋白86 g/L；唇腺活检可见小唾液腺组织部分腺泡萎缩，间质内见淋巴细胞、浆细胞浸润灶2个/4 mm²（淋巴细胞>50个）。周围神经电生理检查结果提示右侧正中神经传导速度减慢。经免疫抑制剂、解痉、肌松药物治疗后症状较前好转。结论·以复杂型痉挛性截瘫样表现、颈部肌张力障碍为首发症状的病例拓展了pSS的临床表型谱；临床上应注意鉴别继发于pSS的神经系统损伤与其他原发神经系统疾病；对于具有无明显原因的神经系统损伤症状的患者，应当筛查相关自身免疫抗体。

关键词: 原发性干燥综合征, 神经系统受累, 痉挛性截瘫, 痉挛性斜颈

Abstract:

Objective ·To study the clinical features of two primary Sj?gren's syndrome (pSS) patients with neurological symptoms as initial manifestations and review the related literature. Methods ·The clinical data, response to treatment as well as prognosis of 2 cases were analyzed and followed up. Results ·Case 1, female, initially presented progressive gait instability and distal sensory impairment at the age of 50. Clinical manifestations included spastic gait, sensory ataxia, conduction fascicular sensory impairment, as well as urination and defecation dysfunction. At the age of 58, this patient was unable to walk independently. The laboratory findings revealed a positive result for anti-nuclear antibody with a titer of 1∶1 000, anti-Sj?gren's syndrome A (SSA)/Ro-52, anti-SSA/Ro-60, and anti-centromere antibodies. Labial salivary gland biopsy showed lymphocytes and plasma cells infiltration into the glandular tissues, interstitium, and lobules, with 2 foci/4 mm² (lymphocytes >50). The cranial magnetic resonance imaging exhibited bilateral symmetric hyperintensity in the brainstem, characterized by the "snake-eye sign". Electromyography examination revealed axonal impairment of the right peroneal nerve. The patient was treated with high-dose corticosteroid therapy in combination with immunosuppressants. She experienced remarkable improvement. After three months, she was able to walk with aids and take care of herself in daily life. Case 2, female, presented spasmodic torticollis since the age of 81 with unknown reason. She had a history of mild mucosal dryness of mouth and eyes, and painful knee for one year. Laboratory findings revealed positive results for anti-SSA/Ro-52 and anti-SSA/Ro-60 antibodies, as well as hemoglobin of 86 g/L. Labial salivary gland biopsy demonstrated partial atrophy of the acini and the presence of 2 foci/4 mm²of lymphocytes and plasma cells infiltration into the stroma (lymphocytes>50). Electromyography examination showed reduced conduction velocity in the right median nerve. She got a significant relief after the treatment of immunosuppressants, antispasmodics, and muscle relaxants. Conclusion ·Patients presenting initial symptoms such as complex forms of spastic paraplegia and cervical dystonia expand the clinical spectrum of pSS. In clinical practice, it is important to distinguish neurological involvement secondary to pSS from other primary neurological disorders. For patients with neurological impairments but without apparent etiology, it is crucial to screen relevant series of autoimmune antibodies.

Key words: primary Sj?gren's syndrome (pSS), neurological involvement, spastic paraplegia, spasmodic torticollis

中图分类号:

R593.2

姚莉, 田沃土, 曹立. 以神经系统损伤为首发症状的2例原发性干燥综合征报道[J]. 上海交通大学学报（医学版）, 2024, 44(6): 795-800.

YAO Li, TIAN Wotu, CAO Li. Two cases of primary Sjögren's syndrome with neurological impairment as initial symptom[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2024, 44(6): 795-800.

图/表 1

参考文献 44

1	CARVAJAL ALEGRIA G, GUELLEC D, DEVAUCHELLE-PENSEC V, et al. Is there specific neurological disorders of primary Sjögren's syndrome?[J]. Joint Bone Spine, 2015, 82(2): 86-89.
2	HE S W, ZHEN X F, HU Y. Juvenile primary Sjogren's syndrome with cutaneous involvement[J]. Clin Rheumatol, 2021, 40(9): 3687-3694.
3	WU W, WANG L, DONG N, et al. Primary Sjögren's syndrome-related choroiditis in a newly diagnosed older adult[J]. Ocul Immunol Inflamm, 2023, 31(9): 1772-1776.
4	QIN B, WANG J, YANG Z, et al. Epidemiology of primary Sjögren's syndrome: a systematic review and meta-analysis[J]. Ann Rheum Dis, 2015, 74(11): 1983-1989.
5	RAMOS-CASALS M, SOLANS R, ROSAS J, et al. Primary Sjögren syndrome in Spain: clinical and immunologic expression in 1 010 patients[J]. Medicine (Baltimore), 2008, 87(4): 210-219.
6	MAVRAGANI C P, MOUTSOPOULOS H M. The geoepidemiology of Sjögren's syndrome[J]. Autoimmun Rev, 2010, 9(5): A305-A310.
7	CHEVET B, CHICHE L Y, DEVAUCHELLE-PENSEC V, et al. How rare is primary Sjögren's syndrome?[J]. Joint Bone Spine, 2023, 90(1): 105480.
8	MARIETTE X, CRISWELL L A. Primary Sjögren's syndrome[J]. N Engl J Med, 2018, 378(10): 931-939.
9	ALEXANDER E L, PROVOST T T, STEVENS M B, et al. Neurologic complications of primary Sjögren's syndrome[J]. Medicine (Baltimore), 1982, 61(4): 247-257.
10	BAKCHINE S, DUYCKAERTS C, HASSINE L, et al. Central and peripheral neurologic lesions in primary Gougerot-Sjögren syndrome. Clinicopathological study of a case[J]. Rev Neurol (Paris), 1991, 147(5): 368-375.
11	CARVAJAL ALEGRIA G, GUELLEC D, MARIETTE X, et al. Epidemiology of neurological manifestations in Sjögren's syndrome: data from the French ASSESS Cohort[J]. RMD Open, 2016, 2(1): e000179.
12	PERZYŃSKA-MAZAN J, MAŚLIŃSKA M, GASIK R. Neurological manifestations of primary Sjögren's syndrome[J]. Reumatologia, 2018, 56(2): 99-105.
13	FAN G, DAI F, CHEN S, et al. Neurological involvement in patients with primary sjögren's syndrome[J]. J Clin Rheumatol, 2021, 27(2): 50-55.
14	GONO T, KAWAGUCHI Y, KATSUMATA Y, et al. Clinical manifestations of neurological involvement in primary Sjögren's syndrome[J]. Clin Rheumatol, 2011, 30(4): 485-490.
15	DELALANDE S, DE SEZE J, FAUCHAIS A L, et al. Neurologic manifestations in primary Sjögren syndrome: a study of 82 patients[J]. Medicine (Baltimore), 2004, 83(5): 280-291.
16	SHIBOSKI C H, SHIBOSKI S C, SEROR R, et al. 2016 American College of Rheumatology/European League Against Rheumatism classification criteria for primary Sjögren's syndrome: a consensus and data-driven methodology involving three international patient cohorts[J]. Ann Rheum Dis, 2017, 76(1): 9-16.
17	CAFARO G, CROIA C, ARGYROPOULOU O D, et al. One year in review 2019: Sjögren's syndrome[J]. Clin Exp Rheumatol, 2019, 37 Suppl 118(3): 3-15.
18	RITTER J, CHEN Y, STEFANSKI A L, et al. Current and future treatment in primary Sjögren's syndrome:a still challenging development[J]. Joint Bone Spine, 2022, 89(6):105406.
19	FAUCHAIS A L, MAGY L, VIDAL E. Central and peripheral neurological complications of primary Sjögren's syndrome[J]. Presse Med, 2012, 41(9 pt 2): e485-e493.
20	LIAMPAS A, NTEVEROS A, PARPERIS K, et al. Primary Sjögren's syndrome (pSS)-related cerebellar ataxia: a systematic review and meta-analysis[J]. Acta Neurol Belg, 2022, 122(2): 457-463.
21	ALEXANDER E L, MALINOW K, LEJEWSKI J E, et al. Primary Sjögren's syndrome with central nervous system disease mimicking multiple sclerosis[J]. Ann Intern Med, 1986, 104(3): 323-330.
22	XU Y, LI K, YAO X, et al. Perioperative bilateral medial medullary infarction with "snake eyes appearance": a case report[J]. Front Med (Lausanne), 2021, 8: 559381.
23	HU B, WU P, ZHOU Y, et al. A case of neuropsychiatric lupus erythematosus characterized by the owl's eye sign: a case report[J]. BMC Neurol, 2017, 17(1): 123.
24	LEBOUTEUX M V, FRANQUES J, GUILLEVIN R, et al. Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging[J]. Eur J Neurol, 2014, 21(9): 1233-1241.
25	HENNEDIGE T, CHOW W, NG Y Y, et al. MRI in spinal cord decompression sickness[J]. J Med Imaging Radiat Oncol, 2012, 56(3): 282-288.
26	SCHREIBER A L, FORMAL C S. Spinal cord infarction secondary to cocaine use[J]. Am J Phys Med Rehabil, 2007, 86(2): 158-160.
27	BRIANI C, CACCIAVILLANI M, NICOLLI A, et al. 'Snake eyes' MRI sign: possible role of cobalt toxicity?[J]. J Neurol, 2015, 262(2): 471-472.
28	SASAKI S. Sporadic lower motor neuron disease with a snake eyes appearance on the cervical anterior horns by MRI[J]. Clin Neurol Neurosurg, 2015, 136: 122-131.
29	FUSHIMI S, NAGANO I, DEGUCHI K, et al. A case of subacute myelitis associated with primary Sjögren syndrome showing no MRI abnormality and diagnosed by somatosensory evoked potentials[J]. No To Shinkei, 2004, 56(12): 1029-1034.
30	MOREIRA I, TEIXEIRA F, MARTINS SILVA A, et al. Frequent involvement of central nervous system in primary Sjögren syndrome[J]. Rheumatol Int, 2015, 35(2): 289-294.
31	PENG X, XIAO Z, WANG L. Spastic paraplegia as the only manifestation in neuropsychiatric lupus: a case report[J]. Eur Rev Med Pharmacol Sci, 2021, 25(23): 7398-7401.
32	MANTERO V, BALGERA R, RIGAMONTI A, et al. Efficacy of high dose methylprednisolone in a patient with cervical dystonia and blepharospasm and Sjögren's syndrome[J]. Neurol Sci, 2015, 36(5): 803-804.
33	VAN DEN BERG J S, HORSTINK M W, VAN DEN HOOGEN F H, et al. Dystonia; a central nervous system presentation of Sjögren's syndrome[J]. Mov Disord, 1999, 14(2): 374-375.
34	JABBARI B, SALARDINI A. Painful tonic/dystonic spasms in Sjogren's syndrome[J]. Mov Disord, 1999, 14(5): 860-864.
35	PAPAGEORGIOU S G, KONTAXIS T, BONAKIS A, et al. Orofacial dystonia related to Sjogren's syndrome[J]. Clin Rheumatol, 2007, 26(10): 1779-1781.
36	ALONSO-NAVARRO H, ARROYO M, PARRA A, et al. Paroxysmal dystonia associated to primary Sjögren's syndrome[J]. Mov Disord, 2009, 24(5): 788-790.
37	RAMAKRISHNA R, CHAUDHURI K, STURGESS A, et al. Haematological manifestations of primary Sjögren's syndrome: a clinicopathological study[J]. QJM, 1992, 83(4): 547-554.
38	RAMOS-CASALS M, FONT J, GARCIA-CARRASCO M, et al. Primary Sjögren syndrome: hematologic patterns of disease expression[J]. Medicine (Baltimore), 2002, 81(4): 281-292.
39	IOANNIDIS J P, VASSILIOU V A, MOUTSOPOULOS H M. Long-term risk of mortality and lymphoproliferative disease and predictive classification of primary Sjögren's syndrome[J]. Arthritis Rheum, 2002, 46(3): 741-747.
40	ZHANG Y, CHEN J Q, YANG J Y, et al. Sex difference in primary Sjögren syndrome: a medical records review study[J]. J Clin Rheumatol, 2023, 29(5): e78-e85.
41	HANSEN A, LIPSKY P E, DÖRNER T. Immunopathogenesis of primary Sjögren's syndrome: implications for disease management and therapy[J]. Curr Opin Rheumatol, 2005, 17(5): 558-565.
42	IMGENBERG-KREUZ J, RASMUSSEN A, SIVILS K, et al. Genetics and epigenetics in primary Sjögren's syndrome[J]. Rheumatology (Oxford), 2021, 60(5): 2085-2098.
43	GRIFFIN J W, CORNBLATH D R, ALEXANDER E, et al. Ataxic sensory neuropathy and dorsal root ganglionitis associated with Sjögren's syndrome[J]. Ann Neurol, 1990, 27(3): 304-315.
44	CHAI J, LOGIGIAN E L. Neurological manifestations of primary Sjogren's syndrome[J]. Curr Opin Neurol, 2010, 23(5): 509-513.

[1]	王领1, 2，张娜1，王艳玲1 ，赵福涛1. 原发性干燥综合征患者唇腺组织水通道蛋白5的表达及意义[J]. 上海交通大学学报(医学版), 2020, 40(10): 1425-1429.
[2]	詹飞霞，曹立 . 遗传性痉挛性截瘫 4 型发病机制的研究进展[J]. 上海交通大学学报（医学版）, 2017, 37(9): 1282-.
[3]	詹飞霞，曹立. 常染色体显性遗传性痉挛性截瘫遗传学进展[J]. 上海交通大学学报（医学版）, 2017, 37(11): 1552-.

以神经系统损伤为首发症状的2例原发性干燥综合征报道

Two cases of primary Sjögren's syndrome with neurological impairment as initial symptom

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表 1

参考文献 44

相关文章 3

编辑推荐

Metrics