Departamento de Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile, Avda Infante 553, Providencia, Santiago, Chile; Servicio de Neurología, Hospital del Salvador, Santiago, Chile.
Departamento de Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile, Avda Infante 553, Providencia, Santiago, Chile.
Neuromuscul Disord. 2019 May;29(5):398-400. doi: 10.1016/j.nmd.2019.02.005. Epub 2019 Feb 19.
Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs. This mechanism has not been reported as a cause of neuropathic damage. An underlying neuropathy was suspected, and most acquired causes of neuropathy were excluded. A sequence analysis showed a novel point mutation in NM_000304.3(PMP22):c.83G>A (p.Trp28Ter), an heterozygous pathogenic variant. Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disorder characterized by recurrent painless entrapment neuropathies; no case of bilateral simultaneous radial paralysis has been reported previously.
双侧同时性桡神经麻痹并不常见,文献中报道的少数病例是由于压迫性损伤引起的,例如在使用腋杖或分娩杆时。我们介绍了一位患者,他在玩跳舞模拟器后出现严重的双侧麻痹。患者在游戏中的姿势是手腕伸展、肘部弯曲、手臂后旋和上肢轻度扭转。这种机制尚未被报道为神经病变损伤的原因。怀疑存在潜在的神经病变,并且排除了大多数获得性神经病变的原因。序列分析显示 NM_000304.3(PMP22)中的一个新的点突变:c.83G>A(p.Trp28Ter),这是一种杂合致病性变异。易患压力性神经病的遗传性神经病是一种常染色体显性疾病,其特征是反复出现无痛性嵌压性神经病;以前没有报告过双侧同时性桡神经麻痹的病例。