| Title | [Hurler syndrome: Early diagnosis and successful enzyme replacement therapy: A new therapeutic approach. Case report.] | | Author(s) | Dupont C, Hachem CE, Harchaoui S, Ribault V, Amiour M, Guillot M, Maire I, Froissart R, Guffon-Fouilhoux N | | Institution | Service de pédiatrie, hôpital de Lisieux, rue Roger-Aini, 14100 Lisieux, France; Service de pédiatrie, CHR Clémenceau, boulevard Clémenceau, B.P. 95182, 14033 Caen, cedex 5, France. | | Source | Arch Pediatr 2007 Dec 24. | | Abstract | Mucopolysaccharidosis typeI (MPSI) 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 19months of age with Hurler's disease, the most severe form of MPSI, 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. | | Language | FRE | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18162380 |
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