Paoletti Matteo, Pichiecchio Anna, Colafati Giovanna Stefania, Conte Giorgio, Deodato Federica, Gasperini Serena, Menni Francesca, Furlan Francesca, Rubert Laura, Triulzi Fabio Maria, Cinnante Claudia
Advanced Imaging and Radiomics Center, Neuroradiology Department, Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia, Italy.
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Front Neurol. 2020 Nov 25;11:569153. doi: 10.3389/fneur.2020.569153. eCollection 2020.
White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatment ( = 5, median age at MRI = 7.4 years, median period of treatment = 85 months) that showed the classic features of extensive supratentorial WM abnormalities but also unusual findings such as early infratentorial WM abnormalities and late supratentorial U-fiber involvement. Given the recent implementation of ERT and the rarity of the disease, a complete spectrum of presentation and understanding of progressive pathology in the brain of IOPD subjects in treatment remains underacknowledged. The availability of long-term follow-up of IOPD subjects under ERT treatment allows a better insight into the evolution of brain abnormalities in such disease.
在酶替代疗法（ERT）时代，脑磁共振成像（MRI）中的白质（WM）异常和脑室扩大是婴儿型庞贝病（IOPD）的已知特征。在这项多中心观察性回顾性研究中，我们报告了一小群接受ERT治疗的IOPD受试者（n = 5，MRI检查时的中位年龄 = 7.4岁，中位治疗时间 = 85个月），他们表现出广泛幕上WM异常的典型特征，但也有一些不寻常的发现，如早期幕下WM异常和晚期幕上U纤维受累。鉴于ERT的近期应用以及该疾病的罕见性，IOPD受试者在治疗过程中完整的表现谱以及对其脑部进行性病理的理解仍未得到充分认识。对接受ERT治疗的IOPD受试者进行长期随访，有助于更好地了解此类疾病中脑异常的演变情况。
