Neural tube closure defects: a discussion of current models and clinicalpresentation of a skull from the Museumof Anatomy of a Brazilian University

ABSTRACT

Currently, neural tube defects (NTD) have anincidence rate of 1/1000 of those born alive.Their occurrence relates to the primary neurulationperiod. In this context, there are twomain embryogenesis models that attempt toexplain neural tube closure: the continuousclosure model and the multisite closuremodel. In this work, we studied a skull withNTD from the collection of the Federal Universityof São Paulo, Paulist School of Medicine,where the cephalic perimeter and indexwere measured and the dental arcade was usedto estimate chronological age. From thisanalysis we conclude that this was a microbrachycephalicskull, with anterior fontanelledisjunction and a neural tube closure defect atsite 2, according to the multisite classificationmodel. In general, NTDs present a highdegree of clinical and etiologic heterogeneity.The causes for this broad diversity of defectsare the intrauterine involvement of teratogenicfactors, among them maternal alcoholism,use of carbamazepine duringpregnancy, and folic acid deficiency, amongothers. There are many genes potentiallyinvolved in this class of defects configuring asmultifactorial. Thus, the multisite closuremodel allows one to explain many of thesedefects by suggesting the possibility of a differentgenetic control for each closure site,together with different sensitivities to environmentalfactors, both interacting with eachother as a probable NTD etiology (AU)

RESUMEN

No disponible