title: Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant.
abstract: The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development.
authors.affiliation: Pediatrics Department, Donostia Universitary Hospital, San Sebastian, Spain; Pediatrics Department, Faculty of Medicine, Basque Country University (UPV/EHU), San Sebastian, Spain.
authors.forename: Leonor
authors.initials: L
authors.lastname: Arranz
authors.affiliation: Pediatrics Department, Faculty of Medicine, Basque Country University (UPV/EHU), San Sebastian, Spain; Metabolism Unit, Cruces Universitary Hospital, Bilbao, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Aldamiz-Echevarria
keywords: 6MWT, 6-minute walk test; Anti-laronidase antibodies; ERT, Enzyme replacement therapy; Enzyme replacement therapy; FEV0.5, forced expiratory volume in 0.5 s; FVC, forced vital capacity; GAGs, glycosaminoglycans; HSCT, hematopoietic stem cell transplantation; Hematopoietic transplant; Hurler syndrome; IV, intravenous; Laronidase; MMEF, maximum midexpiratory flow; MPS-I, mucopolysaccharidosis type I; MRI, magnetic Resonance Imaging; MSCA, McCarthy Scales of Children's Abilities; Mucopolysaccharosidosis type I; ORL, otorhinolaryngology; OSAHS, Obstructive Sleep Apnea–Hypopnea Syndrome; TMT (A), Trail Making Test Part A; WISC-IV, Wechsler Intelligence Scale for Children — IV; X-ray, radiograph