From the ALS Resource and Competence Center (F.C., J.S., A.P., E.B.), Pierre Wertheimer Hospital, Hospices Civils de Lyon; Electroneuromyography and Neuromuscular Diseases Unit (F.C.), Pierre Wertheimer Hospital, Hospices Civils de Lyon; Department of Neuroradiology (M.H.), Pierre Wertheimer Hospital, Hospices Civils de Lyon; Neurophysiology & Epilepsy Unit (G.D.), Neurological Hospital P. Wertheimer, Hospices Civils de Lyon; Reference Centre for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis (V.R., J.H.), Hospices Civils de Lyon, Neurological Hospital, Bron; and Centre de Compétences des Maladies Neuro Musculaires (M.M.), CHU Grenoble Alpes, Grenoble, France.
Neurol Neuroimmunol Neuroinflamm. 2023 Aug 22;10(6). doi: 10.1212/NXI.0000000000200153. Print 2023 Nov.
Anti-IgLON5 disease (IgLON5-D) may present with a bulbar-onset motor neuron disease-like phenotype, mimicking bulbar-onset amyotrophic lateral sclerosis. Recognition of their distinctive clinical and paraclinical features may help for differential diagnosis. We report 2 cases of atypical trigeminal neuropathy in bulbar-onset IgLON5-D.
Trigeminal nerve involvement was assessed using comprehensive clinical, laboratory, electrophysiologic, and MRI workup.
Both patients were referred for progressive dysphagia, sialorrhea, and hoarseness. They were treated with bilevel positive airway pressure for nocturnal hypoventilation. Patient 1 complained of continuous facial burning pain with allodynia, exacerbated by mastication and prolonged speech. Patient 2 reported no facial pain. Anti-IgLON5 autoantibodies (IgLON5-Abs) were positive in serum for both patients and CSF for patient 1. Cerebral MRI revealed bilateral T2 fluid-attenuated inversion recovery (FLAIR) hyperintensity and enlargement of trigeminal nerves without gadolinium enhancement in both patients. Needle myography showed fasciculations in masseter muscles. Blink-reflex study confirmed bilateral trigeminal neuropathy only in patient 2. Cortical laser-evoked potentials showed a bilateral small-fiber dysfunction in the trigeminal nerve ophthalmic branch in patient 1.
In case of progressive atypical bulbar symptoms, the presence of a trigeminal neuropathy or trigeminal nerve abnormalities on MRI should encourage the testing of IgLON5-Abs in serum and CSF.
抗 IgLON5 病（IgLON5-D）可能表现为球部起病的运动神经元病样表型，类似于球部起病的肌萎缩侧索硬化症。识别其独特的临床和辅助检查特征有助于鉴别诊断。我们报告了 2 例球部起病 IgLON5-D 伴发不典型三叉神经病变。
通过全面的临床、实验室、电生理和 MRI 检查评估三叉神经受累情况。
两名患者均因进行性吞咽困难、流涎和声音嘶哑而就诊。他们因夜间通气不足而接受双水平气道正压通气治疗。患者 1 主诉持续性面部烧灼感伴感觉异常，咀嚼和长时间讲话可加重；患者 2 无面部疼痛。两名患者的血清和患者 1 的脑脊液中均检测到抗 IgLON5 自身抗体（IgLON5-Abs）阳性。头颅 MRI 显示两名患者双侧三叉神经 T2 液体衰减反转恢复（FLAIR）高信号和增粗，但无钆增强。肌电图显示咬肌有肌束颤动。眨眼反射研究仅在患者 2 中证实双侧三叉神经病变。皮质激光诱发电位显示患者 1 的三叉神经眼支存在双侧小纤维功能障碍。
在出现进行性不典型球部症状时，如果存在三叉神经病变或 MRI 上的三叉神经异常，应鼓励检测血清和脑脊液中的 IgLON5-Abs。
