School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Department of Neurology, Longyou People's Hospital, Quzhou, Zhejiang, China.
BMC Neurol. 2024 Nov 9;24(1):435. doi: 10.1186/s12883-024-03909-4.
Stiff person syndrome (SPS) is a rare disease characterized by axial and lower-extremity muscle rigidity, muscle spasm, and pain. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS. This case is particularly notable for its uncommon initial symptom: orthostatic hypotension, coupled with the presence of multiple antibodies. Such a presentation is a rarity in the context of PERM, thus providing a fresh and unique angle for both diagnosis and treatment.
This case presents a 71-year-old man who was ultimately diagnosed with progressive encephalomyelitis with rigidity and myoclonus (PERM). His initial symptom was orthostatic hypotension, and we detected multiple antibodies such as GlyR antibody, GAD antibody, GM1-IgG and GQ1b-IgG in his serum. The patient showed partial response to glucocorticoid and immunoglobulin therapies, but as the disease recurred and progressed, plasma exchange, rituximab, and cyclophosphamide immunosuppressive therapy was administered, the prognosis remained poor. During follow-up after treatment, the patient developed pulmonary embolism and cardiac arrest, and died.
PERM exhibits diverse manifestation and pathogenic mechanisms. Immune heterogeneity affects clinical symptoms and prognosis. Cases of PERM combined with orthostatic hypotension and various antibodies have rarely been reported, the incidence and the specific mechanism is unknown, underscoring the need for further research. This case report underscores the importance of recognizing the diverse clinical presentations of PERM and the challenges in its diagnosis and management. It highlights autonomic dysfunction may be as the initial symptom of PERM. Moreover, it emphasizes the limitations of current treatment modalities and the necessity for further research to elucidate the underlying mechanisms and optimize therapeutic approaches for this debilitating autoimmune condition.
僵人综合征（SPS）是一种罕见疾病，其特征为轴性和下肢肌肉僵硬、肌肉痉挛和疼痛。进行性脑脊髓炎伴僵硬和肌阵挛（PERM）是 SPS 的一种变体。本病例的特别之处在于其罕见的初始症状：直立性低血压，同时存在多种抗体。在 PERM 的背景下，这种表现非常罕见，为诊断和治疗提供了一个新颖而独特的角度。
本病例报告了一位 71 岁男性，最终被诊断为进行性脑脊髓炎伴僵硬和肌阵挛（PERM）。他的初始症状是直立性低血压，我们在他的血清中检测到多种抗体，如 GlyR 抗体、GAD 抗体、GM1-IgG 和 GQ1b-IgG。该患者对糖皮质激素和免疫球蛋白治疗有部分反应，但随着疾病复发和进展，给予了血浆置换、利妥昔单抗和环磷酰胺免疫抑制治疗，但预后仍较差。治疗后随访期间，患者发生肺栓塞和心脏骤停，最终死亡。
PERM 表现出多样化的表现和发病机制。免疫异质性影响临床症状和预后。PERM 合并直立性低血压和多种抗体的病例很少见，其发病率和具体机制尚不清楚，需要进一步研究。本病例报告强调了认识 PERM 多样化临床表现以及在诊断和管理方面面临的挑战的重要性。它强调自主神经功能障碍可能是 PERM 的初始症状。此外，它还强调了目前治疗方法的局限性，需要进一步研究阐明潜在机制，并优化这种使人衰弱的自身免疫疾病的治疗方法。
