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Archives de pédiatrie
Volume 18, n° 9
pages 979-982 (septembre 2011)
Doi : 10.1016/j.arcped.2011.06.021
Received : 6 July 2010 ;  accepted : 27 June 2011
Forme atténuée du syndrome de Morquio : une cause méconnue de retard statural (à propos de trois cas)
Moderated form of Morquio syndrome: An unknown cause of short stature (three case reports)
 

A. Oulahiane a, , N. Elhaddad a, H. Ouleghzal b, A. Gaouzi c
a Service d’endocrinologie, diabétologie et nutrition, CHU Ibn Sina, Rabat, Maroc 
b Service d’endocrinologie, diabétologie, hôpital militaire d’instruction Mohamed V, Rabat, Maroc 
c Service de pédiatrie II, hôpital d’Enfants Rabat, Rabat, Maroc 

Auteur correspondant.
Résumé

La maladie de Morquio est une affection génétique rare caractérisée par l’accumulation de kératane-sulfate au niveau des tissus. On en distingue deux formes selon l’enzyme déficiente : le type A, de pronostic péjoratif, et le type B. Sa prise en charge est essentiellement symptomatique. L’enzymothérapie substitutive et la thérapie génique sont toujours en cours d’évaluation. Nous rapportons les observations de trois patients présentant une maladie de Morquio de type A dans sa forme atténuée. L’intérêt de cet article est de rapporter les actualités en matière de prise en charge diagnostique et thérapeutique et surtout de mettre l’accent sur les formes mineures devant faire évoquer ce diagnostic devant tout retard statural.

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Summary

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder.

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