Longitudinal transvaginal neurosonographic evaluation of intracranial lesions in a fetus with tuberous sclerosis complex.

Abstract

Purpose: Tuberous sclerosis complex is often suspected prenatally when multiple cardiac rhabdomyomas are detected; however, fetal intracranial lesions may be difficult to identify. The purpose of this case report is to demonstrate the importance and utility of serial transvaginal neurosonography in fetuses with suspected tuberous sclerosis complex.

Methods: We reviewed the prenatal and postnatal imaging findings and clinical course of this case.

Results: The fetus was referred at 31 weeks' gestation because of multiple cardiac tumors and a paternal history of tuberous sclerosis complex. Transabdominal ultrasound showed no definite brain abnormality, whereas transvaginal neurosonography revealed multiple hyperechogenic cortical/subcortical lesions in the bilateral parietal lobes and subependymal nodules along the lateral ventricular walls. The largest suspected cortical/subcortical tuber was serially measured using transvaginal neurosonography and showed no apparent interval growth. Fetal magnetic resonance imaging (MRI) at 34 weeks did not clearly demonstrate the cortical/subcortical lesions, although subependymal nodules were suspected. Postnatal MRI confirmed multiple cortical/subcortical tubers, subependymal nodules, and radial migration lines, and genetic testing identified a known TSC2 missense variant. This case suggests that transvaginal neurosonography may complement fetal MRI in the prenatal assessment of intracranial lesions associated with tuberous sclerosis complex.

Conclusion: This case highlights the usefulness of serial transvaginal neurosonography in fetuses with suspected tuberous sclerosis complex for detection and perinatal management.