Skip to main content Accessibility help
×
Hostname: page-component-788cddb947-jbjwg Total loading time: 0 Render date: 2024-10-14T19:39:20.773Z Has data issue: false hasContentIssue false

Chapter 37 - Defects of Neural Tube Closure and Axial Mesodermal Defects

from Neural Tube Defects and Patterning Defects

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access

Summary

One of the critical early steps in the development of the central nervous system (CNS) is the closure of the neural tube and subsequent coverage by mesenchymal and epithelial components. Failure of these steps results in dorsal axis anomalies of the CNS (1). Furthermore, coverage of the CNS by mesenchymal and epithelial components is necessary for the development of the skull and vertebral column, which are in turn necessary for the protection of the CNS. It is not always clear if the main abnormality is one of actual neural tube closure, or a failure of the CNS coverings to properly form and contain the CNS. Factors external to the fetus, such as adherent amniotic membranes, can cause injury or malformation to the developing CNS.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Avagliano, L, Massa, V, George, TM, Qureshy, S, Bulfamante, GP, Finnell, RH. Overview on neural tube defects: From development to physical characteristics. Birth Defects Res. 2019 111(19):1455–67.Google Scholar
O’Rahilly, RR, Müller, F. The Embryonic Human Brain: An Atlas of Developmental Stages, 3rd edition. New York: Wiley; 2006.CrossRefGoogle Scholar
O’Rahilly, R, Muller, F. Bidirectional closure of the rostral neuropore in the human embryo. Am J Anat. 1989;184(4):259–68.Google Scholar
Copp, AJ, Stanier, P, Greene, ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013;12(8):799810.Google Scholar
van Straaten, HWM, Janssen, HCJP, Peeters, MCE, Copp, AJ, Hekking, JWM. Neural tube closure in the chick embryo is multiphasic. Dev Dynamics. 1996;207:309–18.Google Scholar
van Allen, MI, Kalousek, DK, Chernoff, GF, Juriloff, D, Harris, M, McGillivray, BC, et al. Evidence for multi-site closure of the neural tube in humans. Am J Med Genet. 1993;47:723–43.CrossRefGoogle ScholarPubMed
Ahmad, FU, Dwarakanath, S, Sharma, BS, Mahapatra, AK. Multiple neural tube defects: a clinical series of seven cases and their embryological basis. Pediatr Neurosurg. 2008;44(4):280–7.Google Scholar
Golden, JA, Chernoff, GF. Multiple sites of anterior neural tube closure in humans: evidence from anterior neural tube defects (anencephaly). Pediatrics. 1995;95(4):506–10.Google ScholarPubMed
Mahalik, SK, Vaze, D, Kanojia, RP, Narasimhan, KL, Rao, KL. Multiple neural tube defects may not be very rare. Childs Nerv Syst. 2013;29(4):609–19.Google Scholar
O’Rahilly, R, Muller, F. The two sites of fusion of the neural folds and the two neuropores in the human embryo. Teratology. 2002;65(4):162–70.Google ScholarPubMed
de Bakker, BS, Driessen, S, Boukens, BJD, MJB, van den Hoff, Oostra, RJ. Single-site neural tube closure in human embryos revisited. Clin Anat. 2017;30(7):988–99.CrossRefGoogle ScholarPubMed
Copp, AJ, Harding, BN. Neural tube defects. In: Adle-Biassette, H, Harding, BN, Golden, JA, editors. Developmental Neuropathology, 2nd edition. Hoboken: John Wiley & Sons; 2018. p. 1328.Google Scholar
Nakatsu, T, Uwabe, C, Shiota, K. Neural tube closure in humans initiates at multiple sites: evidence from human embryos and implications for the pathogenesis of neural tube defects. Anat Embryol. 2000;201(6):455–66.CrossRefGoogle ScholarPubMed
van Straaten, HW, Peeters, MC, Hekking, JW, van der Lende T.Neurulation in the pig embryo. Anat Embryol (Berl). 2000;202(2):7584.CrossRefGoogle ScholarPubMed
O’Rahilly, R, Muller, F. The meninges in human development. J Neuropathol Exp Neurol. 1986;45(5):588608.Google Scholar
Richtsmeier, JT, Flaherty, K. Hand in glove: brain and skull in development and dysmorphogenesis. Acta Neuropathol. 2013;125(4):469–89.Google Scholar
Di Ieva, A, Bruner, E, Haider, T, Rodella, LF, Lee, JM, Cusimano, MD, et al. Skull base embryology: a multidisciplinary review. Childs Nerv Syst. 2014;30(6):9911000.Google Scholar
Shapiro, R, Robinson, F. The Embryogenesis of the Human Skull: An Anatomic and Radiographic Atlas. Cambridge, MA: Harvard University Press; 1980.Google Scholar
Som, PM, Naidich, TP. Development of the skull base and calvarium: an overview of the progression from mesenchyme to chondrification to ossification. Neurographics. 2013;3:169–84.Google Scholar
Mandarim-de-Lacerda, CA, Alves, MU. Growth of the cranial bones in human fetuses (2nd and 3rd trimesters). Surg Radiol Anat. 1992;14(2):125–9.CrossRefGoogle ScholarPubMed
Mekonen, HK, Hikspoors, J, Mommen, G, Kruepunga, N, Kohler, SE, Lamers, WH. Closure of the vertebral canal in human embryos and fetuses. J Anat. 2017;231(2):260–74.Google Scholar
Morris, JK, Wald, NJ. Prevalence of neural tube defect pregnancies in England and Wales from 1964 to 2004. J Med Screen. 2007;14(2):55–9.CrossRefGoogle ScholarPubMed
Nikkila, A, Rydhstrom, H, Kallen, B. The incidence of spina bifida in Sweden 1973–2003: the effect of prenatal diagnosis. Eur J Public Health. 2006;16(6):660–2.CrossRefGoogle ScholarPubMed
Khoshnood, B, Loane, M, de Walle, H, Arriola, L, Addor, MC, Barisic, I, et al. Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ. 2015;351:h5949.Google Scholar
Nikolopoulou, E, Galea, GL, Rolo, A, Greene, ND, Copp, AJ. Neural tube closure: cellular, molecular and biomechanical mechanisms. Development. 2017;144(4):552–66.Google Scholar
Greene, ND, Copp, AJ. Neural tube defects. Annu Rev Neurosci. 2014;37:221–42.Google Scholar
Yamaguchi, Y, Miura, M. How to form and close the brain: insight into the mechanism of cranial neural tube closure in mammals. Cell Mol Life Sci. 2013;70(17):3171–86.Google Scholar
Bower, C, Stanley, FJ, Nicol, DJ. Maternal folate status and the risk for neural tube defects. The role of dietary folate. Ann N Y Acad Sci. 1993;678:146–55.Google Scholar
Williams, J, Mai, CT, Mulinare, J, Isenburg, J, Flood, TJ, Ethen, M, et al. Updated estimates of neural tube defects prevented by mandatory folic acid fortification – United States, 1995–2011. MMWR Morb Mortal Wkly Rep. 2015;64(1):15.Google Scholar
Kancherla, V, Wagh, K, Johnson, Q, Oakley, GP, Jr. A 2017 global update on folic acid-preventable spina bifida and anencephaly. Birth Defects Res. 2018;110(14):1139–47.Google Scholar
Au, KS, Findley, TO, Northrup, H. Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. Am J Med Genet A. 2017;173(11):3042–57.CrossRefGoogle ScholarPubMed
Lupo, PJ, Agopian, AJ, Castillo, H, Castillo, J, Clayton, GH, Dosa, NP, et al. Genetic epidemiology of neural tube defects. J Pediatr Rehabil Med. 2017;10(3–4):189–94.CrossRefGoogle ScholarPubMed
Ishida, M, Cullup, T, Boustred, C, James, C, Docker, J, English, C, et al. A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. Clin Genet. 2018;93(4):870–9.Google Scholar
Amouee, A, Memarzadeh, M, Ashrafi, M, Farid, M, Sanei, MH, Soroori, S, et al. The effects of amniotic fluid on the histopathologic changes of exposed spinal cord in fetal sheep. Arch Iran Med. 2009;12(1):3540.Google Scholar
Agarwal, R, Thornton, ME, Fonteh, AN, Harrington, MG, Chmait, RH, Grubbs, BH. Amniotic fluid levels of phospholipase A2 in fetal rats with retinoic acid induced myelomeningocele: the potential “second hit” in neurologic damage. J Matern Fetal Neonatal Med. 2016;29(18):3003–8.Google Scholar
Hoving, EW. Nasal encephaloceles. Childs Nerv Syst. 2000;16(10–11):702–6.Google Scholar
Ibrahim, AW, Ashoor, AZ, Satti, MB. Frontal encephalocele and the nasal cavity. Neurochirurgia (Stuttg). 1988;31(1):35–7.Google Scholar
Turgut, M, Ozcan, OE, Benli, K, Ozgen, T, Gurcay, O, Saglam, S, et al. Congenital nasal encephalocele: a review of 35 cases. J Craniomaxillofac Surg. 1995;23(1):15.Google Scholar
Kurban, Y, Sahin, I, Uyar, I, Deveci, S, Gul, D. Heterotopic brain tissue on the face and neck in a neonate: a rare case report and literature review. J Matern Fetal Neonatal Med. 2013;26(6):619–21.Google Scholar
Tonni, G, Lituania, M, Bonasoni, MP, De Felice, C. Prenatal ultrasound and histological diagnosis of fetal nasal glioma (heterotopic central nervous system tissue): report of a new case and review of the literature. Arch Gynecol Obstet. 2011;283 Suppl 1:55–9.Google Scholar
Hedlund, G. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging. Pediatr Radiol. 2006;36(7):647–62.Google Scholar
Penner, CR, Thompson, L. Nasal glial heterotopia: a clinicopathologic and immunophenotypic analysis of 10 cases with a review of the literature. Ann Diagn Pathol. 2003;7(6):354–9.Google Scholar
Yeoh, GP, Bale, PM, de Silva, M. Nasal cerebral heterotopia: the so-called nasal glioma or sequestered encephalocele and its variants. Pediatr Pathol. 1989;9(5):531–49.CrossRefGoogle ScholarPubMed
de Villiers, JC, Cluver, PF, Peter, JC. Lipoma of the corpus callosum associated with frontal and facial anomalies. Acta Neurochir Suppl (Wien). 1991;53:16.Google Scholar
Caviness, VS, Jr., Evarard, P. Occipital encephalocele: a pathologic and anatomic analysis. Acta Neuropathol. 1975;32(3):245–55.CrossRefGoogle ScholarPubMed
Karch, SB, Urich, H. Occipital encephalocele – morphological study. J Neurol Sci. 1972;15(1):89112.Google Scholar
Leong, AS, Shaw, CM. The pathology of occipital encephalocoele and a discussion of the pathogenesis. Pathology. 1979;11(2):223–34.Google Scholar
Lorber, J. The prognosis of occipital encephalocele. Dev Med Child Neurol. 1967; Suppl 13:7586.CrossRefGoogle Scholar
Alexiev, BA, Lin, X, Sun, CC, Brenner, DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med. 2006;130(8):1236–8.Google Scholar
Hartill, V, Szymanska, K, Sharif, SM, Wheway, G, Johnson, CA. Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr. 2017;5:244.Google Scholar
Fields, HW, Jr., Metzner, L, Garol, JD, Kokich, VG. The craniofacial skeleton in anencephalic human fetuses. I. Cranial floor. Teratology. 1978;17(1):5765.Google Scholar
Garol, JD, Fields, HW, Jr., Metzner, L, Kokich, VG. The craniofacial skeleton in anencephalic human fetuses. II. Calvarium. Teratology. 1978;17(1):6773.Google Scholar
Kjaer, I, Keeling, JW, Graem, N. Cranial base and vertebral column in human anencephalic fetuses. J Craniofac Genet Dev Biol. 1994;14(4):235–44.Google Scholar
Saraga-Babic, M, Saraga, M. Role of the notochord in the development of cephalic structures in normal and anencephalic human fetuses. Virchows Arch A Pathol Anat Histopathol. 1993;422(2):161–8.CrossRefGoogle ScholarPubMed
Saraga-Babic, M. Development of the notochord in normal and malformed human embryos and fetuses. Int J Dev Biol. 1991;35(3):345–52.Google Scholar
Bell, JE, Green, RJ. Studies on the area cerebrovasculosa of anencephalic fetuses. J Pathol. 1982;137(4):315–28.CrossRefGoogle ScholarPubMed
Chaurasia, BD. Forebrain in human anencephaly. Anat Anz. 1977;142(5):471–8.Google Scholar
Kashani, AH, Hutchins, GM. Meningeal-cutaneous relationships in anencephaly: evidence for a primary mesenchymal abnormality. Hum Pathol. 2001;32(5):553–8.Google Scholar
Ganchrow, D, Ornoy, A. Possible evidence for secondary degeneration of central nervous system in the pathogenesis of anencephaly and brain dysraphia. A study in young human fetuses. Virchows Arch A Pathol Anat Histol. 1979;384(3):285–94.Google Scholar
Vogel, FS, McClenahan, JL. Anomalies of major cerebral arteries associated with congenital malformations of the brain, with special reference to the pathogenesis of anencephaly. Am J Pathol. 1952;28(4):701–23.Google Scholar
Emery, JL, Kalhan, SC. The pathology of exencephalus. Dev Med Child Neurol Suppl. 1970;Suppl 22:51–64.Google Scholar
Wilkins-Haug, L, Freedman, W. Progression of exencephaly to anencephaly in the human fetus–an ultrasound perspective. Prenat Diagn. 1991;11(4):227–33.Google Scholar
Smith, MT, Huntington, HW. Morphogenesis of experimental anencephaly. J Neuropathol Exp Neurol. 1981;40(1):2031.Google Scholar
Urich, H, Herrick, MK. The amniotic band syndrome as a cause of anencephaly. Report of a case. Acta Neuropathol. 1985;67(3–4):190–4.Google ScholarPubMed
Biswas, BP, Chatterjee, G, Biswas, S. Morbid adhesion of placenta on the head of an anencephalic monster. J Indian Med Assoc. 1985;83(6):207–8.Google Scholar
Chaurasia, BD. Amniochorionic bands and adhesions with fetal deformities. Anat Anz. 1978;144(2):158–62.Google Scholar
Tseng, JH, Kuo, MF, Kwang, Tu Y, Tseng, MY. Outcome of untethering for symptomatic spina bifida occulta with lumbosacral spinal cord tethering in 31 patients: analysis of preoperative prognostic factors. Spine J. 2008;8(4):630–8.Google Scholar
Coskun, A, Kiran, G, Ozdemir, O. Craniorachischisis totalis: a case report and review of the literature. Fetal Diagn Ther. 2009;25(1):21–5.Google Scholar
Saraga-Babic, M, Sapunar, D, Stefanovic, V. Histological features of axial structures during embryonic and fetal stages of human craniorachischisis. Acta Neuropathol. 1993;86(3):289–94.Google Scholar
Joo, JG, Beke, A, Papp, C, Szigeti, Z, Csaba, A, Papp, Z. Major diagnostic and pathological features of iniencephaly based on twenty-four cases. Fetal Diagn Ther. 2008;24(1):16.Google Scholar
Rorke-Adams, LB. Pathology of Chiari I and II malformations. In: Tubbs, RS, Oakes, WJ, editors. The Chiari Malformations. New York: Springer; 2013. pp. 103–19.Google Scholar
Masters, CL. Pathogenesis of the Arnold-Chiari malformation: the significance of hydrocephalus and aqueduct stenosis. J Neuropathol Exp Neurol. 1978;37(1):5674.Google Scholar
Barry, A, Patten, BM, Stewart, BH. Possible factors in the development of the Arnold-Chiari malformation. J Neurosurg. 1957;14(3):285301.Google Scholar
Ogryzlo, MA. The Arnold-Chiari malformation. Arch Neurol Psychiatr. 1942;48(1):3046.Google Scholar
Moldenhauer, JS, Flake, AW. Open fetal surgery for neural tube defects. Best Pract Res Clin Obstet Gynaecol. 2019;58:121–32.Google Scholar
Nese, N, Bulbul, Y. Diagnostic value of perinatal autopsies: analysis of 486 cases. J Perinat Med. 2018;46(2):175–81.Google Scholar
Pinar, H, Tatevosyants, N, Singer, DB. Central nervous system malformations in a perinatal/neonatal autopsy series. Pediatr Dev Pathol. 1998;1(1):42–8.Google Scholar
Nielsen, LA, Maroun, LL, Broholm, H, Laursen, H, Graem, N. Neural tube defects and associated anomalies in a fetal and perinatal autopsy series. APMIS. 2006;114(4):239–46.CrossRefGoogle Scholar
Hartge, DR, Gembicki, M, Rody, A, Weichert, J. Neural tube defects in embryonic life: lessons learned from 340 early pregnancy failures. J Ultrasound Med. 2018;37(12):2841–7.Google Scholar
Kar, A, Kar, T, Kanungo, S, Guru, L, Rath, J, Dehuri, P. Risk factors, organ weight deviation and associated anomalies in neural tube defects: A prospective fetal and perinatal autopsy series. Indian J Pathol Microbiol. 2015;58(3):285–91.Google Scholar
Sadovnick, AD, Baird, PA. Congenital malformations associated with anencephaly in liveborn and stillborn infants. Teratology. 1985;32(3):355–61.Google Scholar
Antonsson, P, Sundberg, A, Kublickas, M, Pilo, C, Ghazi, S, Westgren, M, et al. Correlation between ultrasound and autopsy findings after 2nd trimester terminations of pregnancy. J Perinat Med. 2008;36(1):5969.Google Scholar
Shelmerdine, SC, Arthurs, OJ, Gilpin, I, Norman, W, Jones, R, Taylor, AM, et al. Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI? Prenat Diagn. 2019; 39(9):818–829.Google Scholar
ten Donkelaar, HJ, Mullaart, RA, Hori, A, Shiota, K. Neurulation and neural tube defects. In: ten Donkelaar, HJ, Lammens, M, Hori, A, editors. Clinical Neuroembryology Development and Developmental Disorders of the Human Central Nervous System, 2nd edition. Berlin: Springer; 2014. pp. 145–90.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×