Diggikar Pradnya M, Pancholi Tushar, Yammanuru Bhavya, Mundada Mayank, R Janani
Internal Medicine, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND.
Cureus. 2024 Jul 28;16(7):e65561. doi: 10.7759/cureus.65561. eCollection 2024 Jul.
The symptoms of Miller-Fisher syndrome (MFS) are a triad of areflexia, ataxia, and ophthalmoplegia. The condition is a rare variant of Guillain-Barré syndrome (GBS), an acute immune-mediated nerve disorder. Both conditions involve abnormal autoimmune responses that may often be triggered by infections such as , human immunodeficiency virus, Epstein-Barr virus, and Zika virus, among others. As a result, the immune system mistakenly attacks the body's own nerve tissues. MFS is characterised by ophthalmoparesis, which can progress to complete external ophthalmoplegia and may include ptosis, facial nerve paralysis, sensory impairments, and muscle weakness. Diagnosis is supported by lumbar puncture, revealing albumin-cytologic dissociation, although initial tests may not always be indicative. A diagnostic marker for MFS is the presence of anti-GQ1b antibodies, which target the GQ1b ganglioside in nerves and affect oculomotor function in particular. Electrodiagnostic studies often show absent or reduced sensory responses without reduced conduction velocity. Treatment options include intravenous immunoglobulin therapy and plasmapheresis, which are both equally effective. This case study demonstrated significant clinical improvement in a patient undergoing plasmapheresis due to financial constraints, highlighting the efficacy of this treatment approach. A 50-year-old female presented with limb paraesthesia, progressive ptosis, imbalance, and transient diplopia following a recent fever. Examination revealed stable vitals, decreased deep tendon reflexes, reduced vibratory sensation, cerebellar ataxia, and cranial nerve abnormalities. Cerebrospinal fluid analysis showed elevated protein, suggesting MFS. Normal magnetic resonance imaging and nerve conduction studies indicated GBS, with positive anti-GQ1b antibodies. After five plasma exchange cycles, the patient improved substantially and was discharged with no residual symptoms after one month.
米勒-费希尔综合征(MFS)的症状为无反射、共济失调和眼肌麻痹三联征。该病症是吉兰-巴雷综合征(GBS)的一种罕见变体,GBS是一种急性免疫介导的神经疾病。这两种病症都涉及异常的自身免疫反应,这些反应通常可能由感染引发,如人类免疫缺陷病毒、爱泼斯坦-巴尔病毒和寨卡病毒等。结果,免疫系统错误地攻击身体自身的神经组织。MFS的特征是眼肌麻痹,可进展为完全性眼外肌麻痹,可能包括上睑下垂、面神经麻痹、感觉障碍和肌肉无力。腰椎穿刺显示蛋白细胞分离有助于诊断,尽管最初的检查可能并不总是具有指示性。MFS的一个诊断标志物是抗GQ1b抗体的存在,该抗体靶向神经中的GQ1b神经节苷脂,尤其影响动眼神经功能。电诊断研究通常显示感觉反应缺失或减弱,而传导速度未降低。治疗选择包括静脉注射免疫球蛋白疗法和血浆置换,两者同样有效。本病例研究表明,一名因经济限制接受血浆置换的患者临床症状有显著改善,突出了这种治疗方法的疗效。一名50岁女性近期发热后出现肢体感觉异常、进行性上睑下垂、平衡失调和短暂性复视。检查发现生命体征稳定、深腱反射减弱、振动觉减退、小脑性共济失调和颅神经异常。脑脊液分析显示蛋白升高,提示MFS。正常的磁共振成像和神经传导研究表明为GBS,抗GQ1b抗体呈阳性。经过五个血浆置换周期后,患者明显好转,一个月后出院,无残留症状。