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Maroteaux-Lamy syndrome: a case report |
Annales de Biologie Clinique. Volume 69, Number 6, 693-7, Novembre-Décembre 2011, Biologie au quotidien
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 Résumé
Texte intégral
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Author(s) : Aida Mtar, Bassem Charfeddine, Imen Braham, Jihene ben Abdallah, Souhir Neffati, Mohamed Ali Smach, Zouhaier Bourfifa, Monia Ksouri, Hedi Dridi, Khalifa Limem |
Summary : The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected. |
Keywords : metabolic diseases, mucopolysaccharidosis type VI, dermatane sulfate, arylsulfatase B |
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