title: Junctional neural tube defect in a newborn: report of a fourth case.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors.affiliation: Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA. Cameronkurtschmidt@gmail.com.
authors.forename: Cameron
authors.identifier: http://orcid.org/0000-0003-2356-846X
authors.initials: C
authors.lastname: Schmidt
authors.affiliation: Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.
authors.forename: Vlad
authors.initials: V
authors.lastname: Voin
authors.affiliation: Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.
authors.forename: Joe
authors.initials: J
authors.lastname: Iwanaga
authors.affiliation: Swedish Neuroscience Institute, Swedish Medical Center, 550 17th Ave, Seattle, WA, 98122, USA.
authors.forename: Fernando
authors.initials: F
authors.lastname: Alonso
authors.affiliation: Swedish Neuroscience Institute, Swedish Medical Center, 550 17th Ave, Seattle, WA, 98122, USA.
authors.forename: Rod J
authors.initials: RJ
authors.lastname: Oskouian
authors.affiliation: Department of Anatomical Sciences, St. George's University School of Medicine, True Blue, Grenada.
authors.forename: Nitsa
authors.initials: N
authors.lastname: Topale
authors.affiliation: Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.
authors.forename: R Shane
authors.initials: RS
authors.lastname: Tubbs
authors.affiliation: Pediatric Neurosurgery, Children's of Alabama, Birmingham, AL, USA.
authors.forename: W Jerry
authors.initials: WJ
authors.lastname: Oakes
mesh_terms: D000071056:Anorectal Malformations / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009436:Neural Tube Defects / Q000150:complications / Q000000981:diagnostic imaging*
keywords: Anatomy; Imaging; Junctional neural tube defect; Junctional neurulation; Malformation; Primary and secondary neurulation; Spinal cord; Spinal dysraphism