Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) leads to various neurologic symptoms, such as intractable epilepsy and neurodevelopmental disorders, including learning problems and autism spectrum disorder (ASD), which form the significant burden of the disease. Early treatment of seizures can improve developmental outcomes. Additionally, early diagnosis of TSC, before epilepsy onset, allows physicians to closely monitor the development of epilepsy with serial electroencephalograms and initiate preventive treatment. 

Fetal imaging, through ultrasonography or magnetic resonance imaging (MRI), are crucial for the diagnosis of TSC. 

A recent study correlated fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children with tuberous sclerosis complex (TSC) to improve prenatal counseling.

Children with definite TSC, fetal MRIs, and available follow-up data at 2 years of age were enrolled in the study. A blinded- pediatric neuroradiologist evaluated all fetal MRIs and categorized each of the 10 brain lobes as score 0: no (sub)cortical lesions or doubt; score 1: a single small lesion; score 2: >1 small lesion or at least 1 large lesion (>5 mm). Neurologic manifestations were then linked to lesion sum scores.

The results were as follows-

• The study included 41 children. 
• The median gestational age at MRI was 33.3 weeks.
• (sub)cortical lesions were found in 97.6% of MRIs. 
• The mean lesion sum score was 4.5. 
• At 2 years, 58.5% and 22% of patients had epilepsy and drug-resistant epilepsy, respectively. 
• 38%, 81%, and 50% of patients showed a delay in Cognitive, language and motor development, respectively. 
• 20.5% of the patients were diagnosed with Autism spectrum disorder (ASD). 
• Fetal MRI lesion sum scores showed a significant association with cognitive and motor development, and ASD diagnosis, but epilepsy characteristics.

Thus, the association of Fetal cerebral lesion with neurodevelopment and ASD at 2 years, in children with TSC, was proved in this study.

Hulshof HM, Slot EMH, Lequin M, Jansen FE, Nabbout R. Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex. The Journal of Pediatrics. 2021;233:156-162. DOI:https://doi.org/10.1016/j.jpeds.2021.02.060