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 Neuroljournal_title
BMC neurologyauthors
Bartels RHMA,Grotenhuis JA,Stegmann APA,Brunner Hdoi
10.1186/s12883-020-01710-7subject
Has Abstractpub_date
2020-04-06 00:00:00pages
121issue
1issn
1471-2377pii
10.1186/s12883-020-01710-7journal_volume
20pub_type
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