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ISSN 2007-3194 (Print)
Órgano de difusión oficial del Instituto Materno Infantil del Estado de México

2013, Number 1

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Arch Inv Mat Inf 2013; 5 (1)

Rabdomiomas cardiacos, presentación de esclerosis tuberosa. Reporte de un caso

Hernández CEN, Ostía GJP, Pérez CM, Hernández JAA, Rodríguez BI, Rodríguez BR, Sánchez CG

Language: Spanish
References: 8
Page: 30-33
PDF size: 458.05 Kb.


ABSTRACT

Tuberous sclerosis is an autosomal recessive disease, with 100% penetrance, variable expressivity, and 60-75% of new mutations, abnormalities on chromosomes 9 and 16. The characteristic clinical and laboratory studies make a diagnosis. Evolution is very varied, like survival. Medical care and rehabilitation should be aimed at early detection of complications, studies for the timely management of the same. There is no way to prevent it, but with the new advances in genetics see the possibility of having an opportunity for a more targeted treatment to the pathogenesis. Genetic counseling is the only way to prevent new cases at the moment. We report the case of a patient born at the Hospital «Dr. José Eleuterio González» de Monterrey, which presented clinical and radiological features compatible with this disease.


REFERENCES

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