Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement
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 treatme...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-11-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2020.569153/full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Matteo Paoletti |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T11:21:36Z |
| format | Article |
| id | doaj.art-29bd8cd004034c99adb89be849f766b3 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-13T11:21:36Z |
| publishDate | 2020-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-29bd8cd004034c99adb89be849f766b32022-12-21T23:48:27ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-11-011110.3389/fneur.2020.569153569153Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial InvolvementMatteo Paoletti0Anna Pichiecchio1Anna Pichiecchio2Giovanna Stefania Colafati3Giorgio Conte4Federica Deodato5Serena Gasperini6Francesca Menni7Francesca Furlan8Laura Rubert9Fabio Maria Triulzi10Fabio Maria Triulzi11Claudia Cinnante12Advanced Imaging and Radiomics Center, Neuroradiology Department, Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia, ItalyAdvanced Imaging and Radiomics Center, Neuroradiology Department, Istituto di Ricovero e Cura a Carattere Scientifico Mondino Foundation, Pavia, ItalyDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyOncological Neuroradiology Unit, Imaging Department, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù, Rome, ItalyFondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, ItalyUnit of Metabolic Disease, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù, Rome, ItalyPediatric Rare Diseases Unit, Department of Pediatrics, Fondazione Monza e Brianza per il Bambino e la sua Mamma, San Gerardo Hospital, Monza, ItalyPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Milan, ItalyPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Milan, ItalyDivision of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, Padua, ItalyFondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, ItalyDepartment of Pathophysiology and Transplantation, University of Milan, Milan, ItalyFondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, ItalyWhite 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.https://www.frontiersin.org/articles/10.3389/fneur.2020.569153/fullPompe diseaseIOPDinfantile-onset Pompe diseasebrain MRIERT (enzyme replacement therapy)white matter (WM) |
| spellingShingle | 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 Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement Frontiers in Neurology Pompe disease IOPD infantile-onset Pompe disease brain MRI ERT (enzyme replacement therapy) white matter (WM) |
| title | Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement |
| title_full | Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement |
| title_fullStr | Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement |
| title_full_unstemmed | Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement |
| title_short | Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement |
| title_sort | multicentric retrospective evaluation of five classic infantile pompe disease subjects under enzyme replacement therapy with early infratentorial involvement |
| topic | Pompe disease IOPD infantile-onset Pompe disease brain MRI ERT (enzyme replacement therapy) white matter (WM) |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2020.569153/full |
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