Author:
Paoletti Matteo,Pichiecchio Anna,Colafati Giovanna Stefania,Conte Giorgio,Deodato Federica,Gasperini Serena,Menni Francesca,Furlan Francesca,Rubert Laura,Triulzi Fabio Maria,Cinnante Claudia
Abstract
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 (n = 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.
Subject
Neurology (clinical),Neurology
Cited by
6 articles.
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