Maroteaux-Lamy syndrome, mild form--MPS vi b.
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) form B is a rare disease occurring in siblings. It may present with radiological features like Perthes' disease or hypothyroidism. We report two such cases, and discuss the differential diagnosis of the spondylo-epiphyseal dysplasias. We stress the importance of final diagnosis by identifying a particular glycosaminoglycan excess in the urine and an enzyme deficiency in the fibroblasts aryl sulphatase B and N-acetylgalactosamine-4-sulphatase.
D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D007866:Leg / Q000000981:diagnostic imaging; D008297:Male; D009083:Mucopolysaccharidoses / Q000000981:diagnostic imaging*; D009087:Mucopolysaccharidosis VI / Q000000981:diagnostic imaging* / Q000235:genetics; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging