Frontiers in Neurology (Nov 2020)

Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement

  • Matteo Paoletti,
  • Anna Pichiecchio,
  • Anna Pichiecchio,
  • Giovanna Stefania Colafati,
  • Giorgio Conte,
  • Federica Deodato,
  • Serena Gasperini,
  • Francesca Menni,
  • Francesca Furlan,
  • Laura Rubert,
  • Fabio Maria Triulzi,
  • Fabio Maria Triulzi,
  • Claudia Cinnante

DOI
https://doi.org/10.3389/fneur.2020.569153
Journal volume & issue
Vol. 11

Abstract

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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.

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