Ortíz Juan Fernando, Solís María Belén, Ali Syed Saad, Khurana Mahika, Moncayo Juan Andrés, Kothari Nishel Yogesh, Alzamora Mateo, Eissa-Garces Ahmed, Patel Ghanshyam, Monteros Gustavo Andrés, Sen Meghdeep, Quiñonez Jonathan
Department of Neurology, California Institute of Behavioral Neurosciences & Psychology, Fairfield, CA 94534, USA.
School of Medicine, Colegio de Ciencias de la Salud, Pontificia Universidad Católica del Ecuador, Quito 170083, Ecuador.
Neurol Int. 2022 Jun 1;14(2):497-505. doi: 10.3390/neurolint14020041.
Background: Fabry disease (FD) is the second most common lysosomal storage disorder. This disorder affects multiple systems that include the cardiac, renal, and nervous system. The pulvinar sign (PS) is a relatively common sign seen in patients with FD. The PS is a bilateral, symmetrical pulvinar high signal relative to the signal intensity seen on unenhanced T1-weighted brain MR imaging. Methods: We conducted a systematic review with metanalysis to analyze the pool prevalence of the disorder. We used the Moose Guidelines and PRISMA Protocol for this systematic review and Robins 1 to access the BIAS of the study. To analyze the pool prevalence, we used “Open Meta-Analysis” software for analyzing the study. We used “Review Manager 5.4” to analyze the odds ratio between patients with and without the PS and patients with and without stroke among patients with FD. Results: We gather 12 studies from 2003 to 2021 for the analysis of this study. The pool prevalence of the study was 0.146 (0.076−0.217) (62/385 cases) with a 95% CI (0.0945−0.415) (p < 0.01). The prevalence was much higher in men (59 cases) than in women (3 cases). There was no relationship between the pulvinar sign and patients with stroke among patients with Fabry disease. Odds ratio 1.97 95% CI (0.35−11.21), p = 0.44; Tau2 = 0.77. There seems to be a correlation with renal failure (RF), but there were very few studies to conduct a metanalysis with RF. Conclusions: The prevalence of the PS among all studies was 23.9%; the prevalence of this sign is higher among males. We found that FD patients who had strokes did not have higher odds of presenting with the Pulvinar Sign than the FD patients who did not suffer a stroke. Patients with renal failure and FD seem to have a higher tendency to have the PS, but there were not enough studies to analyze that theory. Overall, we think the pulvinar sign has a poor prognostic value in patients with Fabry’s disease.
法布里病（FD）是第二常见的溶酶体贮积症。这种疾病会影响多个系统，包括心脏、肾脏和神经系统。丘脑枕征（PS）是FD患者中相对常见的体征。PS是在未增强的T1加权脑磁共振成像上相对于信号强度而言的双侧对称丘脑枕高信号。方法：我们进行了一项荟萃分析的系统评价，以分析该疾病的合并患病率。我们使用MOOSE指南和PRISMA方案进行这项系统评价，并使用Robins 1来评估研究的偏倚。为了分析合并患病率，我们使用“开放荟萃分析”软件来分析研究。我们使用“Review Manager 5.4”来分析FD患者中有和没有PS的患者之间以及有和没有中风的患者之间的比值比。结果：我们收集了2003年至2021年的12项研究用于本研究分析。该研究的合并患病率为0.146（0.076 - 0.217）（62/385例），95%置信区间为（0.0945 - 0.415）（p < 0.01）。男性（59例）的患病率远高于女性（3例）。在法布里病患者中，丘脑枕征与中风患者之间没有关联。比值比为1.97，95%置信区间为（0.35 - 11.21），p = 0.44；Tau2 = 0.77。似乎与肾衰竭（RF）存在相关性，但关于RF进行荟萃分析的研究很少。结论：所有研究中PS的患病率为23.9%；该体征在男性中的患病率更高。我们发现，与未发生中风的FD患者相比，发生中风的FD患者出现丘脑枕征的几率并不更高。肾衰竭和FD患者似乎更倾向于出现PS，但没有足够的研究来分析这一理论。总体而言，我们认为丘脑枕征在法布里病患者中的预后价值较差。
