Yamamoto Daisuke, Yamada Minoru, Cao Bo, Suzuki Syuuichirou, Hisahara Shin, Shimohama Shun
Department of Neurology, Sapporo Medical University School of Medicine.
Rinsho Shinkeigaku. 2021 Feb 23;61(2):115-119. doi: 10.5692/clinicalneurol.cn-001508. Epub 2021 Jan 26.
A 59-year-old woman presented with a 7-year history of facial numbness on the left side, and gradual worsening of symptoms. Over several years, facial muscle weakness, dysarthria, tongue atrophy and fasciculation had progressed. Then, she developed cerebellar ataxia affecting the left extremities, in addition to earlier symptoms. Brain MRI revealed cerebellar atrophy, and Tc-SPECT depicted cerebellar hypoperfusion. A repetitive nerve stimulation test (RNS) indicated abnormal decrement in the nasalis and trapezius muscles on the left side. Facial-onset sensory and motor neuronopathy (FOSMN) was diagnosed. Administration of intravenous immunoglobulin resulted in improvement of some symptoms. Although cerebellar ataxia is not a common symptom of FOSMN, a case showing TDP-43-positive glial cytoplasmic inclusions in cerebellar white matter has been reported. Therefore, it is possible that FOSMN may cause cerebellum impairment in some patients. Furthermore, RNS positive rate in the trapezius muscle is known to be high in amyotrophic lateral sclerosis (ALS) patients. It is speculated that RNS of the affected muscles in FOSMN may show abnormal decrement by the same mechanisms as ALS.
一名59岁女性，有7年左侧面部麻木病史，症状逐渐加重。数年来，面部肌肉无力、构音障碍、舌萎缩和肌束震颤不断进展。随后，除早期症状外，她出现了影响左侧肢体的小脑共济失调。脑部MRI显示小脑萎缩，Tc-SPECT显示小脑灌注不足。重复神经电刺激试验（RNS）表明左侧鼻肌和斜方肌出现异常递减。诊断为面肌起病的感觉和运动神经元病（FOSMN）。静脉注射免疫球蛋白治疗后部分症状有所改善。虽然小脑共济失调并非FOSMN的常见症状，但已有报道1例在小脑白质中出现TDP-43阳性神经胶质细胞质包涵体的病例。因此，FOSMN在某些患者中可能会导致小脑损害。此外，已知肌萎缩侧索硬化症（ALS）患者斜方肌的RNS阳性率较高。推测FOSMN中受累肌肉的RNS可能通过与ALS相同的机制显示异常递减。
