Junctional Neural Tube Defect

Eibach, Sebastian; Pang, Dachling

J Korean Neurosurg Soc. 2020 May;63(3):327-337. 10.3340/jkns.2020.0018.

Junctional Neural Tube Defect

Eibach S ^1,2,3
Pang D ^4,5

Affiliations

¹Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia
²Department of Neurosurgery, Macquarie University Hospital, Sydney, Australia
³Department of Paediatric Neurosurgery, Sydney Children’s Hospital Randwick, Sydney, Australia
⁴Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children, NHS Trust, London, UK
⁵Department of Paediatric Neurosurgery, University of California, Davis, CA, USA

KMID: 2501719
DOI: http://doi.org/10.3340/jkns.2020.0018

Abstract

Junctional neurulation represents the most recent adjunct to the well-known sequential embryological processes of primary and secondary neurulation. While its exact molecular processes, occurring at the end of primary and the beginning of secondary neurulation, are still being actively investigated, its pathological counterpart –junctional neural tube defect (JNTD)– had been described in 2017 based on three patients whose well-formed secondary neural tube, the conus, is widely separated from its corresponding primary neural tube and functionally disconnected from corticospinal control from above. Several other cases conforming to this bizarre neural tube arrangement have since appeared in the literature, reinforcing the validity of this entity. The cardinal clinical, neuroimaging, and electrophysiological features of JNTD, and the hypothesis of its embryogenetic mechanism, form part of this review.

Keyword

Spinal dysraphism; Embryology; Neurulation; Neural tube defects

Junctional Neural Tube Defect

Abstract

Keyword

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