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2001, Number 3

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Rev Mex Med Fis Rehab 2001; 13 (3)

Tuberous sclerosis. A case report and literature review

Velasco MC, Chávez OJL

Language: Spanish
References: 52
Page: 89-98
PDF size: 120.21 Kb.


ABSTRACT

It’s presented a case of Tuberous sclerosis complex, which clinical picture has typical signs of the disease accordance with published literature. It’s a disease with dominant autosomic source, with alterations in 9 and 16 chromosomes. This disease has been studied in United States, United Kingdom and Holland, with great advances performed. The clinical picture is typical and laboratory and gabinet evaluations make a precised diagnosis. It’s not easy en cases of “forme frustré” or discrete neurodermic syndromes. Evolution is very varied, and surveillance. Medical care and rehabilitation must be oriented to detect complications early, and asses evaluations for opportune management of them. There is not prevention, although new advances in Genetics will become the possibility of having a change por leading ethiopatogenic treatment. Genetic counseling is only way for preventing new cases. General recommendations are noted for following cases according with age. Modern Medicine and Rehabilitation must offer all resources for getting optimal quality of life in spite of the limitations of natural course of this disorder.


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