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Pediatría (Asunción)

versão On-line ISSN 1683-9803


DESVARS, Patricia et al. Tuberous sclerosis complex: Report of a neonatal case. Pediatr. (Asunción) [online]. 2020, vol.47, n.3, pp.170-174. ISSN 1683-9803.

Tuberous sclerosis complex is a genetic condition caused by mutations in the tumor suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16 respectively. Approximately two-thirds of cases occur sporadically and the overall incidence has been estimated to be 1 in 5,800 live births. It is characterized by benign lesions and tumors (hamartomas) in multiple organ systems (brain, heart, skin, eyes, kidneys, lungs, liver). Accurate prenatal detection is important for prognosis, a decision about the pregnancy outcome, and counseling. We report the case of a healthy pregnant woman and her fetus with a presumptive diagnosis of tuberous sclerosis, due to the finding of intracardiac masses on prenatal ultrasound, confirmed after birth, with involvement of other organs, fulfilling the major diagnostic criteria. The case presented is the first recorded case at our Department of Neonatology and this report illustrates the prenatal and postnatal diagnostic approach of a relatively rare disease.

Palavras-chave : Tuberous Sclerosis; prenatal diagnosis; cardiac rhabdomyoma.

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