Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System

J Pediatr. 2022 Jan:240:297-301.e5. doi: 10.1016/j.jpeds.2021.09.020. Epub 2021 Sep 20.

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.

Keywords: ERT and MPS; HSCT; MPSI; MPSI-H; haematopoietic stem cell transplantation; magnetic resonance; neuroradiology and MPS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Brain / diagnostic imaging*
  • Brain / pathology
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mucopolysaccharidosis I / diagnostic imaging*
  • Mucopolysaccharidosis I / pathology
  • Mucopolysaccharidosis I / surgery
  • Neuroimaging
  • Retrospective Studies
  • Spinal Cord / diagnostic imaging*
  • Spinal Cord / pathology