Definition for Maroteaux-Lamy Syndrome

The clinical characteristics of the Maroteaux-Lamy syndrome are striking osseous and corneal changes (like those of MPS I) without intellectual impairment until late, if at all. more

The clinical characteristics of the Maroteaux-Lamy syndrome are striking osseous and corneal changes (like those of MPS I) without intellectual impairment until late, if at all. Only (or predominantly) chondroitin sulfate B is excreted in the urine. Of all the mucopolysaccharidoses, MPS VI usually shows the most striking inclusions in circulating white blood cells. As in other mucopolysaccharidoses, as well as in other lysosomal diseases, mild and severe forms are observed. The classic form has severe physical changes, including hydrocephalus due to meningeal involvement, leading to death in the teens as a rule. The mildest form of the disease is characterized by short stature, corneal clouding, Legg-Perthes-like disease of the hips, and aortic stenosis. Cases of intermediate severity, possibly confused clinically with mucolipidosis III (252600), have also been observed. In all forms of the disease striking leukocyte inclusions and deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) are found. Azurophilic cytoplasmic inclusions in the polymorphonuclear leukocytes, so-called Alder granules (103800), are more striking in MPS VI than in any of the other mucopolysaccharidoses, with the possible exception of MPS VII. Indeed, Gitzelmann (1990) restudied Alder's original family (Alder, 1939) and discovered that the affected individuals, in fact, had MPS VI in mild form. Levy et al. (1980) showed that platelets as well as leukocytes show Reilly granules. less