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

Abstract

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.