The mucopolysaccharidosis represent a broad spectrum of disorders due to the deficiency of one of a group of enzymes which degrade three classes of mucopolysaccharides: heparan sulfate, dermatan-sulfate and keratan sulfate. The general phenotype includes coarse facies, corneal clouding, hepatosplenomegaly, joint stiffness, hernias, dysostosis multiplex, mucopolysaccharides excretion in the urine and metachromatic staining in peripheral leukocytes and bone marrow. Various components of the MPS phenotype are also found in the mucolipidoses, glycoprotein storage diseases. Detailed clinical and radiologic evaluation and identification of the type of MPS excreted in the urine help to narrow the diagnosis possibilities. Definitive diagnosis requires assay of specific enzymes in various tissues such as cultured skin fibroblasts. For the moment there are 14 types of known mucopolysaccharidoses, including several subtypes. They are classified into Hurler's syndrome (MPS I-H); Scheie's syndrome (MPS I-S); Hurler-Scheie's syndrome (MPS I-H/S); Hunter's syndrome A, B (MPS II-A, B); Sanfilippo's syndrome A,B,C,D (MPS II-A,B,C,D); Morquio's syndrome A,B,C (MSP IV-A,B,C); Maroteaux-Lamy's syndrome (MPS VI) and Sly's syndrome MPS VII). The mucopolysaccharidosis incidence is around 0.04-0.3% of the newborn and they are 1.5% of all congenital disorders. All mucopolysaccharidosis are autosomal recessive disorders, except for Hunter's syndrome that is X-linked and recessive. Patient suffering of MPS, usually, don't show clinical sign from their birth in fact they develop later their characteristics. The average surviving of this patients is around 20-30 years old, and the exitus is due to cardiac failure or to infections to the gastrointestinal tract or to instability of atlantoaxial joint.

The mucopolysaccharidosis (MPS) diseases lead to the accumulation of glycosaminoglycan in many tissues. In this study 19 MPS I, one MPS II, five MPS III, and two MPS VI patients underwent liver biopsy for light and electron microscopic examination. Electron microscopy was performed for all 27 specimens. Twenty-six specimens were studied by light microscopy, and the slides were stained with colloidal iron and alcian blue in 26 and six biopsy specimens, respectively. By hematoxylin-eosin stain 20 of 26 cases showed hepatocellular dilatation with rarefaction of the cytoplasm; the Kupffer cells were unremarkable. Twenty-four and 25 of the 26 biopsy specimens showed substantial colloidal iron staining of hepatocytes and Kupffer cells, respectively. The six biopsy specimens prepared with alcian blue stain showed no reactivity of any cell type. Electron microscopy revealed characteristic membrane-bound inclusions within the hepatocytes and Kupffer cells of all 27 biopsy specimens. Of 19 cases in which Ito cells were identified, 18 included cells containing similar inclusions. Twenty of 27 biopsy specimens also demonstrated the hepatocellular accumulation of lipid droplets. Although there were no absolute distinguishing features among the various MPS diseases, the two MPS VI cases showed glycosaminoglycan inclusions that were fewer in number, smaller, and contained more abundant lipofusion than those associated with the other MPS types.

The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler - MPS I (1 case); Hunter - MPS II (2 cases); Sanfilippo - MPS III (2 cases); Morquio - MPS IV (4 cases); Maroteaux-Lamy - MPS VI (9 cases); and Sly - MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

In general, all forms are progressive disorders characterized by one or more of the following:

Coarse facial features ; Hepatosplenomegaly ; Corneal clouding ; Lesions of cardiac valves ; Narrowing of coronary arteries ; Joint stiffness ; Mental retardation.

Mucopolysaccharidoses are a family of metabolic disorders characterized by a deficiency in the catabolic lysosomal pathways. They are rare, inherited diseases which lead to progressive cellular, tissue and organ damage across a broad spectrum of phenotypes. To prevent irreversible damage early diagnosis is essential. Typical signs and symptoms are the thoracolumbar gibbus, shortened and plumped metacarpal bones, hip dysplasia, deformed ribs and ovoid vertebral bodies. Due to the typical deformation of the pelvis hip dislocation occurs often in childhood. Bilateral carpal tunnel syndrome is frequent. Bone marrow transplantation and enzyme replacement therapy are available. Orthopaedic interventions are based on individual therapeutic decisions and indications.

Cardiac structural involvement in mucopolysaccharidoses. Cardiology. 2002;98(1-2):18-20.

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4-22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

Ophthalmologic signs in mucopolysaccharidoses: two case reports. J Fr Ophtalmol. 2007 Feb;30(2):165-9.

BACKGROUND: The mucopolysaccharidoses (MPS) form a group of heterogeneous hereditary lysosomal storage diseases, distinguished by facial dysmorphy in gargoyle-like facies. The enzymatic deficiency involves the degradation of glycosaminoglycans, whose accumulation manifests in severe general and ophthalmologic problems. CASES REPORT: We report the cases of two 18-month-old girls consulting for corneal clouding and photophobia. The diagnosis was made based on the facial dysmorphy, then biologically corroborated: Scheie's syndrome (MPS type I-S) and Hurler's syndrome (MPS type I-H). The corneal clouding was isolated or associated with bilateral disc swelling. Enzyme replacement therapy was instituted in both cases while waiting for bone marrow transplantation, with a better prognosis in the first case because of the type of MPS and the less severe neurological involvement. DISCUSSION: The accumulation of glycosaminoglycans in ocular tissues can involve stromal opacities, glaucoma, retinopathy, and optic nerve swelling. Whereas the ophthalmological involvement is often secondary, it can lead the ophthalmologist to the diagnosis of MPS. The early diagnosis of MPS, before the onset of neurological signs, is vital, since treatment can stop disease progression. CONCLUSION: Better knowledge of the clinical signs of MPS on the part of the ophthalmologists could improve the prognosis of these patients.

Overview of enzyme replacement therapy in mucopoly- saccharidosis. Presse Med. 2007 Mar;36 Spec No 1:1S96-9.

Mucopolysaccharidosis are rare, multisystemic and progressive diseases with an extremely various clinical spectrum. For the type I, II and VI mucopolysaccharidosis, enzyme replacement therapy is available. In these three diseases, enzyme replacement therapy induces a reduction in urinary glycosaminoglycanes excretion and on improvement in functional tests, 6 minutes walk test, pulmonary function test and range of motion.