Babaee Marzieh, Rahmati Mahdieh, Dehdahsi Shima, Lochmuller Hanns, Bahrami Mohamad Hassan, Zeinali Vahide, Rayegani S Mansoor
Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
BMC Musculoskelet Disord. 2024 Dec 27;25(1):1078. doi: 10.1186/s12891-024-08220-4.
Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
In this case series study, nine patients with Pompe disease without complaints of neuropathy were evaluated. Small fiber neuropathy was assessed using the Small Fiber Neuropathy Screening List (SFNSL) and SUDOSCAN, while the sympathetic system was evaluated through Sympathetic Skin Response (SSR), and large fiber neuropathy was assessed through electrodiagnostic findings.
Small fiber neuropathy was detected in seven patients (77.8%) according to the SFNSL. Three patients (3/9, approximately 30%) exhibited positive electrophysiological tests, including SSR, SUDOSCAN, and nerve conduction studies for neuropathy. They also had positive SFNSL results.
This study indicates that neuropathy can be a comorbid condition in Pompe disease, emphasizing the importance of screening for this disabling condition.
庞贝病是一种主要影响横纹肌的糖原贮积病。尽管其主要表现在肌肉方面，但庞贝病患者可能会出现非肌肉症状，如听力丧失，这表明由于糖原积累，感觉器官或神经系统可能受到潜在影响。
本研究旨在评估庞贝病患者是否存在伴发的小纤维和大纤维神经病变。
在这个病例系列研究中，对9例无神经病变主诉的庞贝病患者进行了评估。使用小纤维神经病变筛查清单（SFNSL）和SUDOSCAN评估小纤维神经病变，通过交感皮肤反应（SSR）评估交感神经系统，通过电诊断结果评估大纤维神经病变。
根据SFNSL，7例患者（77.8%）检测出小纤维神经病变。3例患者（3/9，约30%）的电生理检查结果呈阳性，包括SSR、SUDOSCAN以及神经病变的神经传导研究。他们的SFNSL结果也呈阳性。
本研究表明神经病变可能是庞贝病的一种合并症，强调了筛查这种致残性疾病的重要性。
