A case showing multiple lesions that make it very illustrative is reported. Differential diagnosis is made with some other diseases that are similar in some isolated facts. Mention is also made on the pathophysiology of the disease as well as on the necessity of the intercourse of several medicosurgical specialties in the management of these patients.
View Article and Find Full Text PDFA case is reported with a syndrome characterized by mental retardation, choreoathetosis, high levels of uric acid and aggressive, selfmutilation behavior, diagnosed as Lesch-Nyhan's syndrome. The most important features are, its appearance confined only to males, the absence of abnormalities along the prenatal and newborn periods, as well as the progressive impairment in the clinical course of the patient. The presence of high blood levels of uric acid which was controlled with the administration of allopurinol, the anemia, treated with ferrous sulfate and the complete absence of the AGPRT enzyme, were the laboratory findings.
View Article and Find Full Text PDFThese 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.
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