Prenatal diagnosis of tuberous sclerosis in association with rhabdomyomas: case report and discussion of the importance of molecular diagnosis

Vallenas Campos R.E.; Eustaquio Briceño L.A.; Tacchino E.H.; Rodriguez C.I.; Paucar H.S.; Urquiaga W.C.; Torres Sotomayor K.C. · Revista Peruana de Ginecologia y Obstetricia (2024) · DOI: 10.31403/rpgo.v70i2610

Resumen

Tuberous sclerosis complex (TSC) is characterized by the development of hamartomas in various tissues. We present the case of a 39-year-old female patient with a 24-week-old fetus with multiple rhabdomyomas in whom a prenatal molecular diagnosis of TSC was made. With the diagnosis confirmed, postnatal evaluation was extended, finding hypopigmented macules in the skin and multiple cortical and subependymal tubercles. In the family evaluation, the father presented cutaneous lesions and is under study to confirm TSC. At 6 months of age, the infant remains asymptomatic. The diagnosis of prenatal TSC has an impact on the prognosis of the patient and family. It improves the postnatal neurological prognosis, allows extending the search for the disease to parents and siblings, and provides tools for more accurate pregnancy counseling and family planning.