Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis

Abstract

Tuberous sclerosis (TS) is an autosomal dominant phakomatosis. A high percentage of spontaneous mutations leads to the diagnosis of new cases in normal families. This diagnosis is suspected at antenatal ultrasound on the discovery of multiple cardiac tumors. Antenatal cerebral ultrasound shows a normal appearance in affected fetuses. Eight fetuses with multiple cardiac tumors were studied with antenatal MRI with, in five cases, an abnormal appearance showing hyperintense subependymal and cortical nodules on T1-weighted images. Among the three remaining patients MRI was non-contributive in one due to movement artefact, one had abnormal postnatal MRI consistent with TS and one had a normal postnatal and clinical examination. We conclude that MRI is a valuable tool in making the diagnosis of TS in fetuses with multiple cardiac tumors.