title: [Maroteaux-Lamy syndrome: a case report].
abstract: 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.
authors: Faculté de médecine, département de biochimie, Sousse, Tunisie. docteuraida@yahoo.fr
authors: Aida
authors: A
authors: Mtar
authors: Bassem
authors: B
authors: Charfeddine
authors: Imen
authors: I
authors: Braham
authors: Jihene
authors: J
authors: Ben Abdallah
authors: Souhir
authors: S
authors: Neffati
authors: Mohamed Ali
authors: MA
authors: Smach
authors: Zouhaier
authors: Z
authors: Bourfifa
authors: Monia
authors: M
authors: Ksouri
authors: Hedi
authors: H
authors: Dridi
authors: Khalifa
authors: K
authors: Limem
mesh_terms: D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000097:blood / Q000175:diagnosis; D006130:Growth Disorders / Q000097:blood / Q000175:diagnosis; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000032:analysis / Q000097:blood / Q000378:metabolism
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase