Cameron Schmidt1, Vlad Voin2, Joe Iwanaga2, Fernando Alonso3, Rod J Oskouian3, Nitsa Topale4, R Shane Tubbs2, W Jerry Oakes5. 1. Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA. Cameronkurtschmidt@gmail.com. 2. Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA. 3. Swedish Neuroscience Institute, Swedish Medical Center, 550 17th Ave, Seattle, WA, 98122, USA. 4. Department of Anatomical Sciences, St. George's University School of Medicine, True Blue, Grenada. 5. Pediatric Neurosurgery, Children's of Alabama, Birmingham, AL, USA.
Abstract
INTRODUCTION: A discontinuous, functionally disconnected spinal cord is an extremely rare finding, with only three known reports in the literature. Titled junctional neural tube defect (JNTD), this newly reported dysraphism is believed to arise from a developmental error occurring during junctional neurulation, a transitory stage of development marked by the end of primary neurulation and the beginning of secondary neurulation. Herein, we report a newborn case of JNTD. CASE REPORT: We report a newborn boy born with anorectal atresia. Physical examination revealed normal movement in the upper and lower extremities. Imaging revealed distal sacral agenesis and a spinal cord that was discontinuous at the thoracolumbar junction. Three vertebral segments inferiorly, at the L2 vertebral level, the distal end of the spinal cord (i.e., conus medullaris) were visualized. No signs of a tethered cord were identified. CONCLUSIONS: Characterized by an error in junctional neurulation in which the primary and secondary NT fail to integrate appropriately, JNTD has been recently classified. We believe the current patient to represent only the fourth reported case of JNTD in the literature.
INTRODUCTION: A discontinuous, functionally disconnected spinal cord is an extremely rare finding, with only three known reports in the literature. Titled junctional neural tube defect (JNTD), this newly reported dysraphism is believed to arise from a developmental error occurring during junctional neurulation, a transitory stage of development marked by the end of primary neurulation and the beginning of secondary neurulation. Herein, we report a newborn case of JNTD. CASE REPORT: We report a newborn boy born with anorectal atresia. Physical examination revealed normal movement in the upper and lower extremities. Imaging revealed distal sacral agenesis and a spinal cord that was discontinuous at the thoracolumbar junction. Three vertebral segments inferiorly, at the L2 vertebral level, the distal end of the spinal cord (i.e., conus medullaris) were visualized. No signs of a tethered cord were identified. CONCLUSIONS: Characterized by an error in junctional neurulation in which the primary and secondary NT fail to integrate appropriately, JNTD has been recently classified. We believe the current patient to represent only the fourth reported case of JNTD in the literature.