Multiple neural tube defects may not be very rare

Abstract

Background

Multiple neural tube defects (MNTDs) are a rare occurrence. Although the clinical incidence is small, MNTDs raise some interesting embryological queries.

Aim

This study aims to investigate the morphological and clinical variations observed in neonates presenting with multiple neural tube defects and associated central nervous system anomalies.

Materials and methods

This is a prospective study carried out at our institute to assess clinical and morphological variation in patients presenting with multiple neural tube defects.

Results

Among the 263 patients with a neural tube defect, who presented to our outpatient department and emergency departments, only 10 cases of MNTDs were identified. Thus, incidence of MNTDs in the cohort of patients affected with NTD was 0.038 %. Among the 10 patients, 9 had double neural tube defects and 1 patient had three neural tube defects.

Conclusions

Multiple neural tube defects may not be very rare in the general population, especially the populations with high incidence of neural tube defects. Multisite closure theory has the versatility to explain various combinations of neural tube defects, but better insights into the molecular pathways governing this tightly regulated process can provide us the missing link in establishing the pathogenesis of multiple NTDs. It can also provide us with an opportunity to prevent NTDs or treat them in utero by pharmacological modulation of these signaling pathways.