Tanei Takafumi, Nishimura Yusuke, Nagashima Yoshitaka, Ishii Motonori, Nishii Tomoya, Fukaya Nobuhisa, Abe Takashi, Kato Hiroyuki, Maesawa Satoshi, Saito Ryuta
Department of Neurosurgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
NMC Case Rep J. 2023 Jul 13;10:203-208. doi: 10.2176/jns-nmc.2023-0023. eCollection 2023.
Hereditary neuropathy with liability to pressure palsies is an extremely rare genetic disorder; it is an autosomal dominant disorder with a high incidence of neuropathic and/or musculoskeletal pain. A case of achieving pain relief by spinal cord stimulation using differential target multiplexed stimulation for a 44-year-old female patient with hereditary neuropathy with liability to pressure palsies who was experiencing severe pain in her back, face, and all four limbs is presented. In her early teens, the initial symptoms were numbness and weakness of a limb after movement, which improved spontaneously. Transient pain in her back followed by systemic and persistent muscle weakness and pain developed. Deletion of the gene for peripheral myelin protein 22 was detected by peripheral nerve biopsy. The diagnosis of hereditary neuropathy with liability to pressure palsies was made in her early thirties. A spinal cord stimulation trial was performed because her severe pain continued despite administering many medications. Therefore, two spinal cord stimulation systems were implanted at the C3-5 and Th8-9 levels by two procedures. Pain in her back, arms, and legs decreased from 8 to 1, 5 to 1, and 6 to 2 on the numerical rating scale, respectively. Furthermore, opioid usage was tapered. The pain of hereditary neuropathy with liability to pressure palsies has a complicated pathogenesis and is resistant to pharmacological treatment. Spinal cord stimulation using differential target multiplexed stimulation may be a viable treatment option.
遗传性压力易感性周围神经病是一种极其罕见的遗传性疾病；它是一种常染色体显性疾病，神经病变和/或肌肉骨骼疼痛的发病率很高。本文介绍了一例44岁患有遗传性压力易感性周围神经病的女性患者，该患者背部、面部和四肢均遭受剧痛，通过使用差分目标多重刺激的脊髓刺激实现疼痛缓解的病例。在她十几岁时，最初症状是运动后肢体麻木和无力，症状会自行缓解。随后出现背部短暂疼痛，接着发展为全身性和持续性肌肉无力及疼痛。通过周围神经活检检测到外周髓鞘蛋白22基因缺失。她在三十出头时被诊断为遗传性压力易感性周围神经病。尽管服用了多种药物，但其剧痛仍持续，因此进行了脊髓刺激试验。因此，通过两次手术在C3 - 5和Th8 - 9水平植入了两个脊髓刺激系统。她背部、手臂和腿部的疼痛在数字评分量表上分别从8分降至1分、5分降至1分和6分降至2分。此外，阿片类药物的用量也逐渐减少。遗传性压力易感性周围神经病的疼痛发病机制复杂，对药物治疗有抗性。使用差分目标多重刺激的脊髓刺激可能是一种可行的治疗选择。
