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

Area of Science:

• Developmental biology
• Neuroscience
• Pediatric neurology

Background:

• Junctional neural tube defect (JNTD) is a congenital spinal dysraphism characterized by functional disconnection between primary and secondary neural tubes.
• Segmental spinal dysgenesis (SSD) is a spinal anomaly with improper development of a spinal segment, primarily noted for bony abnormalities.

Purpose of the Study:

• To investigate the potential shared pathoembryogenesis of JNTD and SSD.
• To compare clinical and neuroimaging features of JNTD and SSD based on recent cases and literature review.

Main Methods:

• Description of two recent cases of JNTD with features of SSD.
• Comprehensive review of previous literature on SSD.
• Comparative analysis of neural and bony anomalies in both conditions.

Main Results:

• Both JNTD and SSD exhibit a disconnected spinal cord with a non-functioning band-like structure.
• Similarities include a dysgenic spinal level, posterior vertebral element anomalies in the thoracolumbar region, and spinal canal stenosis.
• Previous SSD pathoembryogenesis theories did not include junctional neurulation, despite shared features.

Conclusions:

• JNTD and SSD may represent the same entity, stemming from errors during junctional neurulation.
• The bony abnormality in SSD might be secondary to the primary neural tube development error.
• Further unified clinical experience accumulation is needed to improve patient management.