Guasp Mar, Köhler Alejandro A, Campolo Michela, Casanova-Molla Jordi, Valls-Sole Josep
EMG and Motor Control Section, Neurology Department, Hospital Clinic, University of Barcelona, Barcelona, Spain.
Servicio de Neurología, FLENI, Buenos Aires, Argentina.
Clin Neurophysiol Pract. 2018 Feb 17;3:40-44. doi: 10.1016/j.cnp.2018.01.002. eCollection 2018.
Small fiber polyneuropathy (SFP) is a common heralding clinical manifestation of damage to the nervous system in patients with familial amyloidosis. The diagnosis of SFP is a significant factor in the decision to treat a previously asymptomatic gene carrier, as treatment would prevent irreversible nerve damage. This requires detection of the earliest but unequivocal signs of peripheral nerve involvement.
We present the case of a young female who was diagnosed of SFP, supported by data from quantitative sensory testing. She had preserved sensory nerve action potentials in the distalmost nerves of her feet and recordable nociceptive evoked potentials. She was successfully transplanted the liver from a previously healthy donor, and recovered fully of her symptoms and signs. Improvement was documented with repeated psychophysical and electrodiagnostic testing in the course of 4 years after transplantation.
This case illustrates the utility of psychophysical testing to support the diagnosis of SFP.
小纤维多发性神经病（SFP）是家族性淀粉样变性患者神经系统损伤常见的先兆临床表现。SFP的诊断是决定治疗既往无症状基因携带者的一个重要因素，因为治疗可预防不可逆的神经损伤。这需要检测外周神经受累的最早但明确的体征。
我们报告一例年轻女性，经定量感觉测试数据支持诊断为SFP。她足部最远端神经的感觉神经动作电位保留，且可记录到伤害性诱发电位。她成功接受了来自一名既往健康供体的肝脏移植，症状和体征完全恢复。移植后4年期间，通过重复的心理物理学和电诊断测试记录到了改善情况。
该病例说明了心理物理学测试对支持SFP诊断的作用。
