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

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.

journal_name

BMC Neurol

journal_title

BMC neurology

authors

Bartels RHMA,Grotenhuis JA,Stegmann APA,Brunner H

doi

10.1186/s12883-020-01710-7

subject

Has Abstract

pub_date

2020-04-06 00:00:00

pages

121

issue

1

issn

1471-2377

pii

10.1186/s12883-020-01710-7

journal_volume

20

pub_type

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