Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series.
BMC Neurol
; 20(1): 121, 2020 Apr 06.
Article
em En
| MEDLINE
| ID: mdl-32252670
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Medula Espinal
/
Disrafismo Espinal
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Hamartoma
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Defeitos do Tubo Neural
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article