Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart . Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence suggests anti-epileptic treatment before the onset of seizures reduces epilepsy severity and risk of cognitive impairment in TSC however identifying these children prior to the onset of seizures is challenging. Our case shows retrospectively reviewed antenatal ultrasounds of a male child diagnosed postnatally at 12 days of life with TSC. Analysis found a soft tissue mass in the right ventricle on antenatal ultrasound which was not captured in the initial ultrasound report. Though there are no reports of sensitivity of neurosonography for the antenatal detection of intracranial abnormalities associated with TSC, our case suggests that antenatal ultrasound could be used as a screening modality for antenatal diagnosis of TSC.
Investigator, CHEO Research Institute