title: [Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report].
abstract: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to alpha-L-iduronidase deficiency. Its severe prognosis has been significantly improved by enzyme replacement therapy using recombinant human alpha-L-iduronidase (laronidase). We report the case of a boy who was diagnosed at 19 months of age with Hurler's disease, the most severe form of MPS I, and received thereafter a treatment by laronidase, resulting in clinical and biological improvement. The aim of this case report is to draw physicians' attention on the presenting signs of Hurler's disease, in order to enable an earlier diagnosis, increasing the treatment's benefits.
authors.affiliation: Service de pédiatrie, hôpital de Lisieux, rue Roger-Aini, 14100 Lisieux, France. clairedupont500@hotmail.com
authors.forename: C
authors.initials: C
authors.lastname: Dupont
authors.forename: C
authors.initials: C
authors.lastname: El Hachem
authors.forename: S
authors.initials: S
authors.lastname: Harchaoui
authors.forename: V
authors.initials: V
authors.lastname: Ribault
authors.forename: M
authors.initials: M
authors.lastname: Amiour
authors.forename: M
authors.initials: M
authors.lastname: Guillot
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: N
authors.initials: N
authors.lastname: Guffon-Fouilhoux
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D007223:Infant; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D007068:Iduronidase