Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA.
Neurology, VA Connecticut Health System, West Haven, Connecticut, USA.
BMJ Case Rep. 2020 May 27;13(5):e234316. doi: 10.1136/bcr-2020-234316.
A 71-year-old man developed dysphagia, bilateral lower extremity muscle weakness and weight loss. He was admitted to the hospital after a failed formal swallow evaluation, nearly 3 weeks after symptom onset. In addition to dysphagia and weakness, physical examination was notable for hypophonia, dysarthria, diplopia, horizontal ophthalmoparesis, ptosis, ataxia and hyporeflexia. Cerebrospinal fluid was notable for albuminocytological dissociation and serum anti-GQ1b antibody titre was elevated (1:200). A diagnosis of Miller-Fisher syndrome (MFS) was made, and the patient was treated with intravenous immunoglobulin (0.4 g/kg/day) for 5 days, which resulted in resolution of symptoms. This is an atypical case of MFS, in that the presenting symptom was progressive dysphagia rather than the ophthalmoplegia and ataxia that are normally seen in MFS. Patients who present with dysphagia should receive a thorough neurological examination, with particular attention to extraocular movements, reflexes and gait stability, to rule out MFS as a potential cause.
一位 71 岁男性出现吞咽困难、双侧下肢肌无力和体重减轻。在出现症状近 3 周后,由于正式吞咽评估失败,他被收入医院。除了吞咽困难和无力,体格检查还发现声音低微、构音障碍、复视、水平性眼肌麻痹、上睑下垂、共济失调和反射减弱。脑脊液表现为蛋白细胞分离,血清抗 GQ1b 抗体滴度升高(1:200)。诊断为米勒-费舍尔综合征(MFS),患者接受了 5 天的静脉注射免疫球蛋白(0.4 g/kg/天)治疗,症状得到缓解。这是一例不典型的 MFS,因为首发症状是进行性吞咽困难,而不是 MFS 中常见的眼肌麻痹和共济失调。出现吞咽困难的患者应接受全面的神经系统检查,特别注意眼球运动、反射和步态稳定性,以排除 MFS 作为潜在病因的可能。