A case report of triple neural tube defect: revisiting the multisite closure theory.
Encephalocele
Meningomyelocele
Multisite closure theory
Neurulation
Triple neural tube defect
Journal
BMC surgery
ISSN: 1471-2482
Titre abrégé: BMC Surg
Pays: England
ID NLM: 100968567
Informations de publication
Date de publication:
06 Nov 2019
06 Nov 2019
Historique:
received:
05
07
2019
accepted:
24
10
2019
entrez:
8
11
2019
pubmed:
7
11
2019
medline:
29
1
2020
Statut:
epublish
Résumé
Triple neural tube defects are rare. To the author's knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case. We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome. In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.
Sections du résumé
BACKGROUND
BACKGROUND
Triple neural tube defects are rare. To the author's knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case.
CASE PRESENTATION
METHODS
We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome.
CONCLUSION
CONCLUSIONS
In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.
Identifiants
pubmed: 31694612
doi: 10.1186/s12893-019-0633-2
pii: 10.1186/s12893-019-0633-2
pmc: PMC6836406
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
164Références
Indian J Pediatr. 2000 Dec;67(12):915-21
pubmed: 11262991
Am J Med Genet. 1993 Oct 1;47(5):723-43
pubmed: 8267004
Clin Neurol Neurosurg. 2006 Sep;108(6):595-600
pubmed: 15936872
Teratology. 1995 Aug;52(2):101-8
pubmed: 8588181
Teratology. 2002 Apr;65(4):162-70
pubmed: 11948562
Annu Rev Neurosci. 2014;37:221-42
pubmed: 25032496
Lancet Neurol. 2013 Aug;12(8):799-810
pubmed: 23790957
Childs Nerv Syst. 2005 Apr;21(4):331-5
pubmed: 15455247
J Pediatr Surg. 2011 Feb;46(2):e5-8
pubmed: 21292070
J Neurosurg Pediatr. 2008 Feb;1(2):160-3
pubmed: 18352790
Anat Embryol (Berl). 2000 Jun;201(6):455-66
pubmed: 10909899
Teratology. 1991 Aug;44(2):225-33
pubmed: 1925982
Congenit Anom (Kyoto). 2006 Jun;46(2):55-67
pubmed: 16732763