Hobson-Webb Lisa D, Austin Stephanie L, Jain Sneha, Case Laura E, Greene Karla, Kishnani Priya S
Department of Neurology, Division of Neuromuscular Medicine, Duke University Medical Center, Durham, NC, USA.
Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Am J Case Rep. 2015 Apr 3;16:196-201. doi: 10.12659/AJCR.893309.
Prior autopsy reports demonstrate glycogen deposition in Schwann cells of the peripheral nerves in patients with infantile and late-onset Pompe disease (LOPD), but little is known about associated clinical features.
Here, we report the first confirmed cases of small-fiber neuropathy (SFN) in LOPD and present the results of a first attempt at screening for SFN in this patient population. After confirming small-fiber neuropathy in 2 LOPD patients, 44 consecutive Pompe patients (iOPD=7, LOPD n=37) presenting to the Duke University Glycogen Storage Disease Program between September 2013 and November 2014 were asked to complete the 21-item Small-Fiber Neuropathy Screening List (SFNSL), where a score of ≥11 is considered to be a positive screen. Fifty percent of patients had a positive SFN screen (mean score 11.6, 95% CI 9.0-14.2). A modest correlation between the SFNSL score and current age was seen (r=0.38, p=0.01), along with a correlation with duration of ERT (r=0.31, p=0.0495). Trends toward correlation with forced vital capacity and age at diagnosis were also present. Women had a higher mean SFNSL score (14.2) than men (8.2, p=0.017).
SFN may occur in association with Pompe disease and precede the diagnosis. Further studies are needed to determine its true prevalence and impact.
既往尸检报告显示，婴儿型和晚发型庞贝病（LOPD）患者的周围神经施万细胞中有糖原沉积，但相关临床特征鲜为人知。
在此，我们报告LOPD中首例确诊的小纤维神经病变（SFN）病例，并展示了在该患者群体中首次进行SFN筛查的结果。在确诊2例LOPD患者存在小纤维神经病变后，2013年9月至2014年11月期间到杜克大学糖原贮积病项目就诊的44例连续庞贝病患者（婴儿型庞贝病[iOPD]=7例，LOPD=37例）被要求完成21项小纤维神经病变筛查清单（SFNSL），其中得分≥11分被视为筛查阳性。50%的患者SFN筛查呈阳性（平均得分11.6，95%置信区间9.0 - 14.2）。观察到SFNSL得分与当前年龄之间存在适度相关性（r = 0.38，p = 0.01），同时与酶替代疗法（ERT）持续时间也存在相关性（r = 0.31，p = 0.0495）。与用力肺活量和诊断时年龄的相关性趋势也存在。女性的平均SFNSL得分（14.2）高于男性（8.2，p = 0.017）。
SFN可能与庞贝病相关且先于诊断出现。需要进一步研究以确定其真实患病率和影响。
