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01-05-2017 | Case Report

Junctional neural tube defect in a newborn: report of a fourth case

Authors: Cameron Schmidt, Vlad Voin, Joe Iwanaga, Fernando Alonso, Rod J. Oskouian, Nitsa Topale, R. Shane Tubbs, W. Jerry Oakes

Published in: Child's Nervous System | Issue 5/2017

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.

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Title: Junctional neural tube defect in a newborn: report of a fourth case
Authors: Cameron Schmidt
Vlad Voin
Joe Iwanaga
Fernando Alonso
Rod J. Oskouian
Nitsa Topale
R. Shane Tubbs
W. Jerry Oakes
Publication date: 01-05-2017
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 5/2017
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-017-3353-x

ACC 2024 Congress

Springer Medicine

Junctional neural tube defect in a newborn: report of a fourth case

Abstract

Introduction

Case report

Conclusions

ACC 2024 Congress

Springer Medicine

Abstract

Introduction

Case report

Conclusions

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