Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System - 21/12/21
Doi : 10.1016/j.jpeds.2021.09.020
Silvia Pontesilli, MD 1, Cristina Baldoli, MD 1, Pasquale Anthony Della Rosa, MA, PhD 1, Alessandro Cattoni, MD, PhD 2, Maria Ester Bernardo, MD, PhD 3, 4, Pamela Meregalli, MA 2, Serena Gasperini, MD 2, Serena Motta, MD 2, Francesca Fumagalli, MD 3, Francesca Tucci, MD 3, Federica Baciga, MD 3, Giulia Consiglieri, MD 3, Francesco Canonico, MD 5, Paola De Lorenzo, MSc 6, Luisa Chiapparini, MD 7, Bernhard Gentner, MD 3, 4, Alessandro Aiuti, MD, PhD 3, 4, Andrea Biondi, MD, PhD 2, Attilio Rovelli, MD 2, Rossella Parini, MD 2, 3, ⁎ 
1 Department of Neuroradiology, IRCCS San Raffaele Scientific Institute, Milano, Italy
2 Pediatric Department, Fondazione MBBM, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy
3 San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milano, Italy
4 Vita-Salute San Raffaele University of Milano, Milano, Italy
5 Department of Radiology, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy
6 Centro Operativo di Ricerca Statistica, Fondazione Tettamanti, University of Milano-Bicocca, Monza, Italy
7 Neuroradiology Unit, IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
∗Reprint requests: Rossella Parini, MD, Clinica Pediatrica, Fondazione MBBM, Ospedale San Gerardo via Pergolesi 33, 20900 Monza, ItalyClinica PediatricaFondazione MBBMOspedale San Gerardo via Pergolesi 33Monza20900Italy
Abstract |
We developed a brain and spine magnetic resonance scoring system based on a magnetic resonance assessment of 9 patients with mucopolysaccharidosis type I-Hurler who underwent hematopoietic stem-cell transplantation. The score is reliable and correlates with long-term clinical and cognitive outcome in patients with mucopolysaccharidosis type I-Hurler.
Le texte complet de cet article est disponible en PDF.Keywords : ERT and MPS, haematopoietic stem cell transplantation, HSCT, magnetic resonance, MPSI, MPSI-H, neuroradiology and MPS
Abbreviations : DQ, ERT, HSCT, hsds, IDUA, MPS, MPSI-H, MR, WM
Plan
| A.R., S.G., S.M., A.B., and R.P. declare travel grants and consulting fees from Genzyme Sanofi. The other authors declare no conflicts of interest. Data and materials are available at Metabolic Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy; Department of Radiology, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Copies of the radiologic images are also available at the Department of Neuroradiology, IRCCS San Raffaele Scientific Institute, Milano, Italy. |
© 2021
Elsevier Inc. Tous droits réservés.
Vol 240
P. 297 - janvier 2022 Retour au numéro
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