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Evidence of Treatment Benefits in Patients With Mucopolysaccharidosis Type I-Hurler in Long-Term Follow-Up Using a New Magnetic Resonance Imaging Scoring System
source: The Journal of pediatrics
year: 2022
authors: Pontesilli S,Baldoli C,Rosa PAD,Cattoni A,Bernardo ME,Meregalli P,Gasperini S,Motta S,Fumagalli F,Tucci F,Baciga F,Consiglieri G,Canonico F,De Lorenzo P,Chiapparini L,Gentner B,Aiuti A,Biondi A,Rovelli A,Parini R
summary/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.
organization: Department of Neuroradiology, IRCCS San Raffaele Scientific Institute, Milano, Italy.DOI: 10.1016/j.jpeds.2021.09.020
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