Faculty of Medicine, Dentistry and Health, Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK.
Department of Acute Medicine, St Thomas' Hospital, London, UK.
BMJ Case Rep. 2022 Jul 11;15(7):e247441. doi: 10.1136/bcr-2021-247441.
In the majority of cases of motor neuron disease (MND), diagnosis is clinical and unambiguous. However, given the gravity of the diagnosis, it is crucial that treatable mimics are differentiated accurately. We present three cases referred to our clinic with possible MND with unusual features that led to an alternative diagnosis. (1) A middle-aged man with swallowing, then speech problems and foot drop. Tongue movements were slow and electromyography (EMG) showed fibrillations/positive sharp waves. Following investigation, a tonsillar tumour involving the tongue root was identified, and the foot drop improved, suggesting unrelated common peroneal nerve palsy (related to weight loss) or lumbar radiculopathy. (2) An elderly man presenting with progressive unilateral leg weakness and localised fasciculations on EMG. Following investigation, a high-grade brain glioma was diagnosed. (3) An elderly woman presenting with progressive quadriparesis over 18 months with fibrillations and chronic denervation on EMG. Symmetrical weakness and short duration response to immunotherapy led to further serological investigation and a diagnosis of anti-GD1a motor neuropathy. She was treated successfully with intravenous immunoglobulin, cyclophosphamide and rituximab and is now in remission.
在大多数运动神经元病(MND)病例中,诊断是临床明确的。然而,鉴于诊断的严重性,准确地区分可治疗的类似疾病至关重要。我们介绍了三个在我们诊所就诊的可能患有不寻常特征的 MND 的病例,这些特征导致了其他诊断。(1)一名中年男子出现吞咽困难,然后出现言语问题和足下垂。舌运动缓慢,肌电图(EMG)显示纤颤/正锐波。经进一步检查,发现扁桃体肿瘤累及舌根,足下垂改善,提示与体重减轻相关的无关性常见腓总神经麻痹或腰椎神经根病。(2)一名老年男子出现进行性单侧腿部无力和 EMG 上的局部束颤。经进一步检查,诊断为高级别脑胶质瘤。(3)一名老年妇女在 18 个月内出现进行性四肢无力,肌电图显示纤颤和慢性去神经支配。对称性无力和对免疫治疗的短时间反应导致进一步的血清学检查和抗 GD1a 运动神经病的诊断。她成功接受了静脉注射免疫球蛋白、环磷酰胺和利妥昔单抗治疗,现已缓解。