Resumo

MAITA Q., Freddy et al. Tuberous sclerosis complex: diagnosis, pre and postnatal management: report of a clinical case. Gac Med Bol [online]. 2017, vol.40, n.1, pp.41-45. ISSN 1012-2966.

The Tuberous Sclerosis Complex is a multisystem neurocutaneous syndrome produced by a hereditary genetic disease of an autosomal dominant gene with high penetrance and variable expressiveness. It affects many organs mainly to the skin, brain, nervous system, kidneys and heart. The cause is a mutation in one of the genes TSC1 or TSC2; it has been considered that its incidence is 1 in 5.000 to 10.000 born alive. The clinical case of a pregnant woman was reported and referred to the Gynecology and Obstetrics service of the Obrero Hospital No 2 of the Caja Nacional de Salud due to an abnormal cardiac ultrasound finding. The morphological study in the service concluded that it was about a probable tuberous sclerosis; at the end of the pregnancy, a cesarean surgery was performed for obstetrical reasons. The postnatal studies confirmed the discoveries.

Palavras-chave : ETC (Tuberous Sclerosis Complex).

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