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Closed spinal dysraphism: Pathogenesis and types

Chaouki Khoury, MD, MS
Section Editor
Marc C Patterson, MD, FRACP
Deputy Editor
Carrie Armsby, MD, MPH


Neural tube defects are congenital anomalies of neural development with a spectrum of clinical manifestations. They can affect the cranium or spine and are often associated with cutaneous findings [1].

Cranial defects include anencephaly, exencephaly, and encephalocele. (See "Primary (congenital) encephalocele" and "Anencephaly".)

Open spinal dysraphism (spina bifida aperta) is characterized by a cleft in the spinal column, with herniation of the meninges (meningocele) or meninges and spinal cord (myelomeningocele) through the defect. (See "Pathophysiology and clinical manifestations of myelomeningocele (spina bifida)" and "Overview of the management of myelomeningocele (spina bifida)".)

Closed spinal dysraphism (also known as occult spinal dysraphism or spina bifida occulta) is characterized by failure of fusion of the vertebral bodies due to abnormal fusion of the posterior vertebral arches, with unexposed neural tissue; the skin overlying the defect is intact. The more common and least severe forms consist of isolated vertebral bony defects. However, the vertebral defects may occur in association with other more severe anomalies of the spinal cord and sacral structures, such as split spinal cord malformation or various cavitary defects of the spinal cord.

The clinical manifestations of closed (occult) spinal dysraphism (CSD) vary widely and range from benign or asymptomatic to severe neurologic, genitourinary, gastrointestinal, or musculoskeletal anomalies. The clinical presentation, evaluation, and management of these disorders are discussed in a separate topic review. (See "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management".)

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Literature review current through: Nov 2017. | This topic last updated: Nov 29, 2017.
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  1. Dias M, Partington M, SECTION ON NEUROLOGIC SURGERY. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers. Pediatrics 2015; 136:e1105.
  2. Saitsu H, Yamada S, Uwabe C, et al. Development of the posterior neural tube in human embryos. Anat Embryol (Berl) 2004; 209:107.
  3. Betteridge KJ. Comparative aspects of conceptus growth: a historical perspective. Reproduction 2001; 122:11.
  4. Michelson DJ, Ashwal S. Tethered cord syndrome in childhood: diagnostic features and relationship to congenital anomalies. Neurol Res 2004; 26:745.
  5. Estin D, Cohen AR. Caudal agenesis and associated caudal spinal cord malformations. Neurosurg Clin N Am 1995; 6:377.
  6. Boulas MM. Recognition of caudal regression syndrome. Adv Neonatal Care 2009; 9:61.
  7. Diel J, Ortiz O, Losada RA, et al. The sacrum: pathologic spectrum, multimodality imaging, and subspecialty approach. Radiographics 2001; 21:83.
  8. Ceylan S, Duru S, Ceylan S. Valproic acid sodium-induced spina bifida occulta in the rat. Neurosurg Rev 2001; 24:31.
  9. Rosa FW. Spina bifida in infants of women treated with carbamazepine during pregnancy. N Engl J Med 1991; 324:674.
  10. Morrow J, Russell A, Guthrie E, et al. Malformation risks of antiepileptic drugs in pregnancy: a prospective study from the UK Epilepsy and Pregnancy Register. J Neurol Neurosurg Psychiatry 2006; 77:193.
  11. Lobjois V, Benazeraf B, Bertrand N, et al. Specific regulation of cyclins D1 and D2 by FGF and Shh signaling coordinates cell cycle progression, patterning, and differentiation during early steps of spinal cord development. Dev Biol 2004; 273:195.
  12. Qi BQ, Beasley SW, Frizelle FA. Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations. J Pediatr Surg 2003; 38:1310.
  13. Proctor MR, Bauer SB, Scott RM. The effect of surgery for split spinal cord malformation on neurologic and urologic function. Pediatr Neurosurg 2000; 32:13.
  14. Schijman E. Split spinal cord malformations: report of 22 cases and review of the literature. Childs Nerv Syst 2003; 19:96.
  15. Ikenouchi J, Uwabe C, Nakatsu T, et al. Embryonic hydromyelia: cystic dilatation of the lumbosacral neural tube in human embryos. Acta Neuropathol 2002; 103:248.
  16. Economides KD, Zeltser L, Capecchi MR. Hoxb13 mutations cause overgrowth of caudal spinal cord and tail vertebrae. Dev Biol 2003; 256:317.
  17. Müller F, O'Rahilly R. The development of the human brain, the closure of the caudal neuropore, and the beginning of secondary neurulation at stage 12. Anat Embryol (Berl) 1987; 176:413.
  18. Dady A, Havis E, Escriou V, et al. Junctional neurulation: a unique developmental program shaping a discrete region of the spinal cord highly susceptible to neural tube defects. J Neurosci 2014; 34:13208.
  19. Ackerman LL, Menezes AH, Follett KA. Cervical and thoracic dermal sinus tracts. A case series and review of the literature. Pediatr Neurosurg 2002; 37:137.
  20. Solanki GA, Evans J, Copp A, Thompson DN. Multiple coexistent dysraphic pathologies. Childs Nerv Syst 2003; 19:376.
  21. Ilhan H, Tokar B, Atasoy MA, Kulali A. Diagnostic steps and staged operative approach in Currarino's triad: a case report and review of the literature. Childs Nerv Syst 2000; 16:522.
  22. Ebisu T, Odake G, Fujimoto M, et al. Neurenteric cysts with meningomyelocele or meningocele. Split notochord syndrome. Childs Nerv Syst 1990; 6:465.
  23. van Ramshorst GH, Lequin MH, Mancini GM, van de Ven CP. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis. J Pediatr Surg 2006; 41:e19.
  24. Cheng B, Li FT, Lin L. Diastematomyelia: a retrospective review of 138 patients. J Bone Joint Surg Br 2012; 94-B:365.
  25. Gupta DK, Mahapatra AK. Terminal myelocystoceles: a series of 17 cases. J Neurosurg 2005; 103:344.
  26. Davis SW, Levy LM, LeBihan DJ, et al. Sacral meningeal cysts: evaluation with MR imaging. Radiology 1993; 187:445.
  27. Paulsen RD, Call GA, Murtagh FR. Prevalence and percutaneous drainage of cysts of the sacral nerve root sheath (Tarlov cysts). AJNR Am J Neuroradiol 1994; 15:293.
  28. Sewell MJ, Chiu YE, Drolet BA. Neural tube dysraphism: review of cutaneous markers and imaging. Pediatr Dermatol 2015; 32:161.
  29. Jinkins JR, Sener RN. Idiopathic localized hydromyelia: dilatation of the central canal of the spinal cord of probable congenital origin. J Comput Assist Tomogr 1999; 23:351.
  30. Guggisberg D, Hadj-Rabia S, Viney C, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol 2004; 140:1109.
  31. Oh, BC, Wang, MY. Cervical Anatomy and Surgical Approaches. In: Surgery of the Pediatric Spine, Kim, DH, et al (Eds), Thieme Medical Publishers, Inc., New York 2008. p.95.
  32. Congress of Neurosurgical Surgeons: http://www.neurosurgeon.org/education/medStudCur/curriculum.asp?inPage=e1
  33. Tubbs RS, Wellons JC 3rd, Oakes WJ. Occipital encephalocele, lipomeningomyelocele, and Chiari I malformation: case report and review of the literature. Childs Nerv Syst 2003; 19:50.
  34. Catala M. Embryogenesis. Why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst 1997; 13:336.
  35. Pierre-Kahn A, Zerah M, Renier D, et al. Congenital lumbosacral lipomas. Childs Nerv Syst 1997; 13:298.
  36. Eibach S, Moes G, Hou YJ, et al. Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation. Childs Nerv Syst 2017; 33:1633.
  37. Schmidt C, Voin V, Iwanaga J, et al. Junctional neural tube defect in a newborn: report of a fourth case. Childs Nerv Syst 2017; 33:873.
  38. Pang D. Sacral agenesis and caudal spinal cord malformations. Neurosurgery 1993; 32:755.
  39. Tubbs RS, Oakes WJ. Can the conus medullaris in normal position be tethered? Neurol Res 2004; 26:727.
  40. Yamada S, Won DJ, Siddiqi J, Yamada SM. Tethered cord syndrome: overview of diagnosis and treatment. Neurol Res 2004; 26:719.
  41. Yamada S. Tethered cord syndrome in adults and children. Neurol Res 2004; 26:717.
  42. Yamada S, Knerium DS, Mandybur GM, et al. Pathophysiology of tethered cord syndrome and other complex factors. Neurol Res 2004; 26:722.
  43. Hertzler DA 2nd, DePowell JJ, Stevenson CB, Mangano FT. Tethered cord syndrome: a review of the literature from embryology to adult presentation. Neurosurg Focus 2010; 29:E1.
  44. Flake AW. Fetal sacrococcygeal teratoma. Semin Pediatr Surg 1993; 2:113.
  45. Swamy R, Embleton N, Hale J. Sacrococcygeal teratoma over two decades: birth prevalence, prenatal diagnosis and clinical outcomes. Prenat Diagn 2008; 28:1048.
  46. Rescorla FJ, Sawin RS, Coran AG, et al. Long-term outcome for infants and children with sacrococcygeal teratoma: a report from the Childrens Cancer Group. J Pediatr Surg 1998; 33:171.
  47. Schropp KP, Lobe TE, Rao B, et al. Sacrococcygeal teratoma: the experience of four decades. J Pediatr Surg 1992; 27:1075.
  48. De Backer A, Madern GC, Hakvoort-Cammel FG, et al. Study of the factors associated with recurrence in children with sacrococcygeal teratoma. J Pediatr Surg 2006; 41:173.
  49. Dirix M, van Becelaere T, Berkenbosch L, et al. Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: a comparative study. J Pediatr Surg 2015; 50:462.
  50. Perrelli L, D'Urzo C, Manzoni C, et al. Sacrococcygeal teratoma. Outcome and management. An analysis of 17 cases. J Perinat Med 2002; 30:179.
  51. Wilson RD. Prenatal evaluation for fetal surgery. Curr Opin Obstet Gynecol 2002; 14:187.
  52. Wilson RD, Hedrick H, Flake AW, et al. Sacrococcygeal teratomas: prenatal surveillance, growth and pregnancy outcome. Fetal Diagn Ther 2009; 25:15.
  53. Gucciardo L, Uyttebroek A, De Wever I, et al. Prenatal assessment and management of sacrococcygeal teratoma. Prenat Diagn 2011; 31:678.
  54. Lynch SA, Wang Y, Strachan T, et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000; 37:561.
  55. Wender-Ozegowska E, Wróblewska K, Zawiejska A, et al. Threshold values of maternal blood glucose in early diabetic pregnancy--prediction of fetal malformations. Acta Obstet Gynecol Scand 2005; 84:17.
  56. Twickler D, Budorick N, Pretorius D, et al. Caudal regression versus sirenomelia: sonographic clues. J Ultrasound Med 1993; 12:323.
  57. Valenzano M, Paoletti R, Rossi A, et al. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod Update 1999; 5:82.