Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Medical Genetics, National Taiwan University Hospital, Room 19005, 19F, Children's Hospital Building, 8 Chung-Shan South Road, Taipei 10041, Taiwan; Department of Pediatrics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Neuromuscul Disord. 2019 Nov;29(11):903-906. doi: 10.1016/j.nmd.2019.09.011. Epub 2019 Sep 25.
Pathological studies on rodent models and patients with Pompe disease have demonstrated the accumulation of glycogen in spinal motor neurons; however, this finding has rarely been evaluated clinically in patients with Pompe disease. In this study, we analyzed seven patients (age, 7-11 years) with Pompe disease who received long-term enzyme replacement therapy. In addition to traditional myopathy-related clinical and electrophysiological features, these patients often developed bilateral foot drop, distal predominant weakness of four limbs, and hypo- or areflexia with preserved sensory function. Electrophysiological studies showed not only reduced amplitudes of compound muscle action potential, but also absent or impersistent F waves and mixed small and large/giant polyphasic motor unit action potentials with normal sensory study. Muscle biopsy usually showed the existence of angular fingers, fiber type grouping or group atrophy. Taken together, these features support the co-existence of motor neuronopathy additionally to myopathy.
对庞贝病啮齿动物模型和患者的病理学研究表明，糖原在脊髓运动神经元中积累；然而，这一发现很少在庞贝病患者的临床中得到评估。在这项研究中，我们分析了 7 名（年龄 7-11 岁）接受长期酶替代治疗的庞贝病患者。除了传统的肌病相关的临床和电生理特征外，这些患者还经常出现双侧足下垂、四肢远端为主的无力以及感觉功能正常的低反射或无反射。电生理研究显示，不仅复合肌肉动作电位的幅度降低，而且 F 波缺失或不持久，混合小和大/巨大多相运动单位动作电位正常。肌肉活检通常显示存在角状纤维、纤维类型分组或组萎缩。综上所述，这些特征支持运动神经元病与肌病同时存在。
