Prenatal MRI and correlation with outcome at two years in children with tuberous sclerosis complex

Abstract

Purpose: The diagnosis of tuberous sclerosis complex (TSC) is increasingly made prenatally. Because the clinical manifestations are extremely variable prenatal counselling is challenging. To explore the value of prenatal MRI findings, we performed a retrospective study in the participating centres of the EPISTOP consortium. In these preliminary data we assessed the correlation between prenatal MRI findings and neurodevelopmental outcome and refractory epilepsy at the age of 2 years. Method: Children with definite TSC and follow-up until the age of two years whose prenatal MRI scan was available were included. MRI scans and clinical datasheets were collected. All prenatal MRIs were reviewed with a paediatric neuroradiologist, blinded for clinical outcome. The MRIs were scored according to number of lesions per lobe 0 indicated no lesions or doubt, 1 indicated 1 small lesion and 2 indicated > 1 small lesion or ≥ 1 big lesion. A low lesion sum score per child was defined as a score < the mean of sum scores in the total cohort and a high score as ≥ mean. Clinical characteristics were related to lesion score. Results: 18 patients were included. Mean age at MRI was 32.7 weeks; TSC lesions were present in 94.4%. The mean sum score of lesions was 4. At 2 years, 38.9% of patients had refractory epilepsy and 50% developmental delay. Both refractory epilepsy and intellectual disability were significantly more frequent in patients with a high sum score vs. patients with a low sum score, respectively 63.3% vs. 0% (p = 0.013), and 60% vs. 0% (p = 0.026). Conclusion: This study shows that children with TSC and a low lesion sum score on prenatal MRI have a better clinical outcome at two years. These findings may assist prenatal counselling in patients with TSC.L6256230202018-12-28 <br />