Do junctional neural tube defect and segmental spinal dysgenesis have the same pathoembryological background?

Junctional neural tube defect (JNTD) is a recently introduced form of congenital spinal dysraphism that is characterized by functional disconnection between the primary and secondary neural tubes. The upper and lower cords appeared to be connected by a non-functioning band-like structure. JNTD is suspected to arise from a developmental error not corresponding to either primary or secondary neurulation, but rather between the two neurulation processes. On the other hand, segmental spinal dysgenesis (SSD) is an older entity of spinal anomalies in which a segment of the spine and spinal cord does not develop properly. The anomaly had been noted for the bony abnormality, as it is the most prominent feature. Based on the recent encounter of two cases resembling both entities, we sought the possibility that the two diseases may have the same pathoembryogenesis.

Based on the impression that the two entities share important features, we compared the details of the two anomalies. First, our two recently encountered cases of JNTD were described. Second, previous reports of SSD were comprehensively reviewed. The two cases had the essential anomaly of the neural structures satisfying the definition of JNTD, as well as the elaborate spinal deformity as seen in SSD. In the previous literature on SSD, it was recognized that in addition to the bone anomaly, disconnected spinal cord was present. Hence, the two entities seem to have many similar clinical and neuroimaging features. The dysgenic spinal level is similar, and the disconnection between the primary and secondary neural tubes is found in the two diseases. The two neural tubes are connected by a band-like structure, with severe stenosis of the spinal canal at the level of the band. Both entities show segmental anomalies of the vertebrae in the thoracolumbar region, especially in the posterior element. Although the extent of shared features seems high, the previously suggested hypothetical pathoembryogenesis of SSD did not involve the process of junctional neurulation. We suggest that SSD shares the same origin as JNTD, and the bony abnormality may be a secondary phenomenon to the core error during neural tube development.

We propose that JNTD and SSD may be the same entity, originating from an error during junctional neurulation. As there is controversy regarding the treatment strategy for both entities, unified accumulation of clinical experience and analysis may help improve the management of patients.