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BMC Neurology

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01-12-2020 | Spinal Dysraphia | Case report

Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series

Authors: Ronald H. M. A. Bartels, J. Andre Grotenhuis, Alexander P. A. Stegmann, Han Brunner

Published in: BMC Neurology | Issue 1/2020

Abstract

Background

Spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord is better known as herniated spinal cord. There are many arguments in favour of considering it a developmental defect. From this point of view, it is a type of neural tube disorder. Neural tube disorders can be caused by multiple factors, including a genetic factor. A common genetic defect in patients with a spinal dysraphism with a hamartomatous growth of the spinal cord is sought for.

Case presentation

In two patients with a symptomatic lesion and referred to an academic hospital a genetic analysis was performed after informed consent. Whole-exome analysis was performed.

: Whole-exome analysis did not result in identification of a clinically relevant genetic variant.

Conclusions

This the first study to investigate the genetic contribution to spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord. We could not establish a genetic cause for this entity. This conclusion cannot be definitive due to the small sample size. However, the incidental occurrence, the lack of reports of inheritance of this disorder and the absence of contribution to syndromal disorders favours a defect of normal development of the spinal cord.

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Title: Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series
Authors: Ronald H. M. A. Bartels
J. Andre Grotenhuis
Alexander P. A. Stegmann
Han Brunner
Publication date: 01-12-2020
Publisher: BioMed Central
Keyword: Spinal Dysraphia
Published in: BMC Neurology / Issue 1/2020
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-020-01710-7

At a glance: The STEP trials

Springer Medicine

Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series

Abstract

Background

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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