Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis

Abstract

Background and purpose: Strong emphasis has been placed recently on early (4 postnatal months) detection of tuberous sclerosis complex and the introduction of antiepileptic treatment before seizure onset. This objective can be achieved prenatally: Cardiac rhabdomyomas and the major diagnostic tuberous sclerosis complex sign are detected during fetal ultrasound, and prenatal MR imaging allows detection of cerebral major manifestations: cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas.

Materials and methods: We retrospectively reviewed 50 fetuses with ultrasound-detected cardiac tumors at 19-36 gestational weeks (median, 31 weeks). MR imaging with the use of 1.5T scanners was performed at 24-37 gestational weeks (median, 34 weeks).

Results: In 11 fetuses (22%), cardiac tumors remained the only criterion. In remaining 39 fetuses (78%), MR imaging revealed a prenatal diagnosis of tuberous sclerosis complex, having shown an additional 1-3 major criteria: subependymal nodules in all cases (39/39 = 100.0%), subependymal giant cell astrocytomas in 6 (6/39 = 15.4%), and cortical tubers in 24 (24/39 = 61.5%). Radial migration lines and cerebellar tuber, not published so far, were shown in 1 case each.

Conclusions: A schedule of proper care of children with tuberous sclerosis complex can be established during the perinatal period due to education of women to report for mandatory ultrasound examinations during pregnancy, the good quality of ultrasound, and referral to MR imaging if a cardiac tumor is depicted on ultrasound. Gynecologists and pediatric cardiologists performing fetal ultrasound and radiologists performing prenatal MR imaging are a key to early diagnosis of tuberous sclerosis complex in many cases.

FIG 1.

Typical echocardiographic images of multiple cardiac tumors (rhabdomyomas) in 3 different fetuses (fetus 1, 38 GWs (A); fetus 2 (B), 35 GWs; fetus 3 (C and D). A and B, Tumors are located in both ventricles and attached to the ventricular walls and interventricular septum and do not disturb blood flow. C and D, A huge cardiac tumor located in the RV, compressing the LV, and disturbing blood flow through both ventricles (C, 2D view; D, 3D view). E, MR imaging at 30 GWs. SSFSE/T2-weighted image, coronal plane: hypointense cardiac tumor (arrow) against the background of the “black hole” of a heart. RV, right ventricle; LV, left ventricle; Ao, aorta; T and/or * tumor.

FIG 2.

T2-hypointense subependymal nodules on the axial (A), coronal (B), and sagittal (C) planes.

FIG 3.

MR imaging at 32 GWs. SSFSE/T2-weighted images in the axial (A and C) and sagittal (D) planes and an axial T1-weighted image (B). A fetus with 4 major criteria: cardiac tumors (not shown here), 2 SEGAs (measured), SENs (curved arrow), and cortical tubers (straight arrows).

FIG 4.

MR imaging of 2 different fetuses: at 35 GWs (A and B) and at 29 GWs (C and D). SSFSE/T2-weighted images. A and B, T2-hypointense radial migration lines. C and D, T2-hypointense tuber in the right cerebellar hemisphere.

FIG 5.

MR imaging at 34 GWs. SSFSE/T2-weighted images (A and B) and FIESTA (C). Dichorionic diamniotic pregnancy of a mother with TSC, with angiomyolipomas in the kidney (C, Thick arrow). Note the fetus on the left side of the images with a cortical tuber (A, Thin arrow) and SENs (B, Curved arrow).