Akoto Atteh, Sain Elizabeth
Emergency Medicine, Summa Health, Akron, USA.
Internal Medicine, Summa Health, Akron, USA.
Cureus. 2024 Nov 22;16(11):e74212. doi: 10.7759/cureus.74212. eCollection 2024 Nov.
Miller Fisher syndrome (MFS) is a rare variant of Guillain-Barré syndrome (GBS) characterized by a classic triad of external ophthalmoplegia, ataxia, and areflexia, often following a recent infection. Understanding atypical presentations of MFS is crucial for timely diagnosis and management, as the syndrome may be mistaken for other neurological disorders. This report aims to highlight the clinical journey of the patient, including symptom onset, diagnostic challenges, and therapeutic interventions, with a discussion of the broader implications of such atypical cases in the context of MFS. In this case, a 28-year-old male presented with binocular diplopia and numbness. The patient had recently returned from Europe, where he experienced a viral diarrheal infection. He presented to the emergency department with diplopia and numbness throughout his entire body and complained of difficulty ambulating because of the loss of sensation in his feet. The examination was significant for binocular diplopia, bilateral disconjugate gaze with esotropia, diminished sensations, and absent deep tendon reflexes in all four extremities, but no ataxia or weakness was elicited. His case was discussed with neurology with concern for GBS or MFS, and he was hesitantly admitted to the floor with a negative inspiratory force (NIF) of -22 (normal < -60) under the resident admitting service. Lumbar puncture (LP) studies including meningitis/encephalitis pathogen panel, venereal disease research laboratory (VDRL), myelin basic protein, anti-GQ1b antibody, and bacterial cultures were initially unremarkable. Even despite suspicion of the diagnosis, no treatment was started until neurology started IV immunoglobulin (IVIG) the next day when his symptoms worsened with bilateral knee weakness. He received five days of 400 mg/kg of IVIG with an improvement of his distal weakness, numbness, and diplopia, as well as respiratory function with a NIF of -48. With an improved ability to ambulate, he was discharged without new medications with a presumed diagnosis of GBS as the gastrointestinal (GI) polymerase chain reaction (PCR) test showed and . Lumbar puncture studies were eventually positive for the anti-GQb1 antibody, which is consistent with the Miller Fisher variant of GBS. Ultimately, this case exemplifies the need for heightened awareness among healthcare professionals regarding the diverse manifestations of the MFS. As our understanding deepens, we can improve diagnostic accuracy and treatment outcomes for patients suffering from this rare and challenging condition.
米勒-费雪综合征（MFS）是吉兰-巴雷综合征（GBS）的一种罕见变异型，其特征为典型的三联征，即外展神经麻痹、共济失调和腱反射消失，常继发于近期感染。了解MFS的非典型表现对于及时诊断和治疗至关重要，因为该综合征可能被误诊为其他神经系统疾病。本报告旨在突出患者的临床病程，包括症状发作、诊断挑战和治疗干预，并讨论此类非典型病例在MFS背景下的更广泛影响。在本病例中，一名28岁男性出现双眼复视和麻木。该患者最近从欧洲返回，在那里他经历了病毒性腹泻感染。他因双眼复视和全身麻木就诊于急诊科，并抱怨由于脚部感觉丧失而行走困难。检查发现有双眼复视、双侧眼球分离性斜视伴内斜视、感觉减退以及四肢腱反射消失，但未引出共济失调或无力症状。他的病例在神经内科进行了讨论，考虑为GBS或MFS，在住院医师收治服务下，他因吸气负压（NIF）为-22（正常＜-60）而犹豫地被收入病房。腰椎穿刺（LP）检查包括脑膜炎/脑炎病原体检测、性病研究实验室（VDRL）、髓鞘碱性蛋白、抗GQ1b抗体和细菌培养，最初均无异常。尽管怀疑诊断，但直到第二天神经内科开始静脉注射免疫球蛋白（IVIG）时才开始治疗，当时他的症状因双侧膝关节无力而加重。他接受了5天400mg/kg的IVIG治疗，远端无力、麻木和复视以及呼吸功能均有改善，NIF为-48。随着行走能力的改善，他在未使用新药物的情况下出院，初步诊断为GBS，因为胃肠道（GI）聚合酶链反应（PCR）检测显示 和 。腰椎穿刺检查最终抗GQb1抗体呈阳性，这与GBS的米勒-费雪变异型一致。最终，本病例体现了医疗专业人员需要提高对MFS多种表现的认识。随着我们理解的加深，我们可以提高对患有这种罕见且具有挑战性疾病的患者的诊断准确性和治疗效果。
