Dupont C, El Hachem C, Harchaoui S, Ribault V, Amiour M, Guillot M, Maire I, Froissart R, Guffon-Fouilhoux N
Service de pédiatrie, hôpital de Lisieux, rue Roger-Aini, 14100 Lisieux, France.
Arch Pediatr. 2008 Jan;15(1):45-9. doi: 10.1016/j.arcped.2007.08.026. Epub 2007 Dec 26.
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.
I型黏多糖贮积症（MPS I）是一种由于α-L-艾杜糖醛酸酶缺乏引起的溶酶体贮积病。使用重组人α-L-艾杜糖醛酸酶（拉罗尼酶）进行酶替代疗法已显著改善了其严重的预后。我们报告了一名19个月大时被诊断为胡尔勒氏病（MPS I最严重的形式）的男孩的病例，此后他接受了拉罗尼酶治疗，临床和生物学指标均得到改善。本病例报告的目的是引起医生对胡尔勒氏病表现体征的关注，以便能够更早诊断，增加治疗益处。
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