[Mucopolysaccharidosis. A case report of Morquio's type-A disease (MPS IV-A)].
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.(ABSTRACT TRUNCATED AT 250 WORDS)
Pagni
L
L
Facoltà di Medicina e Chirurgia, Istituto di Odonto-Gnato-Stomatologia, Università degli Studi di Firenze.
Bartolozzi
L
L
Giacchetti
D
D
D001132:Arm / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006801:Humans; D003765:Models, Dental; D009059:Mouth Diseases / Q000175:diagnosis* / Q000209:etiology; D009085:Mucopolysaccharidosis IV / Q000150:complications / Q000175:diagnosis*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011862:Radiography, Panoramic; D013131:Spine / Q000000981:diagnostic imaging; D014076:Tooth Diseases / Q000175:diagnosis* / Q000209:etiology
Mucopolisaccaridosi. Descrizione di un caso di Morquio di tipo A (MPS IV-A).