[Mucopolysaccharidosis. Radiological and clinical aspects].
These are congenital diseases that may be seen occasionally, both in males as in females with the exception of Hunter's syndrome which is exclusive of the male sex. This possibility should be suspected before a patient with or without mental retardation and bony malformations. It must be kept in mind there is no medical treatment for their relief. However, recent studies have established a cause of effect relationship of metabolic disturbances of cycopolysaccharides and their accumulation in different tissues of the body, amongst them cartilages (chondrocytes), which would be responsible for the corresponding disturbances seen. Bony age was always found to be less than the chronological. Bony malformations may be corrected if disableness is prevented. Mental retardation was not present in every case and heart disease was diagnosed in only one case, although heart catheterism was practiced in 50% of all cases. Since heart lesion is the main cause of death, it should always be investigated. Clinics, x-rays and laboratory should always be the basis of the diagnosis.
D000293:Adolescent; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography
Mycopolisacaridósis. Aspectos clínicos y radiológicos