Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Closed spinal dysraphism: Clinical manifestations, diagnosis, and management

Chaouki Khoury, MD, MS
Section Editors
Marc C Patterson, MD, FRACP
Moise L Levy, MD
Deputy Editor
John F Dashe, MD, PhD


Neural tube defects are congenital anomalies of neural development with a spectrum of clinical manifestations; they can affect the cranium or spine.

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 (CSD) (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.

This topic will review the clinical manifestations, diagnosis, and management of closed spinal dysraphism. The etiology and different forms of closed spinal dysraphism are reviewed elsewhere. (See "Closed spinal dysraphism: Pathogenesis and types".)

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:

Subscribers log in here

Literature review current through: Nov 2017. | This topic last updated: Sep 27, 2017.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
  1. Lynch SA, Wang Y, Strachan T, et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000; 37:561.
  2. Weprin BE, Oakes WJ. Occult spinal dysraphism: The clinical presentation and diagnosis. Oper Tech Plast Reconstr Surg 2000; 7:39.
  3. Soonawala N, Overweg-Plandsoen WC, Brouwer OF. Early clinical signs and symptoms in occult spinal dysraphism: a retrospective case study of 47 patients. Clin Neurol Neurosurg 1999; 101:11.
  4. Dias M, Partington M, SECTION ON NEUROLOGIC SURGERY. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers. Pediatrics 2015; 136:e1105.
  5. 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.
  6. Schijman E. Split spinal cord malformations: report of 22 cases and review of the literature. Childs Nerv Syst 2003; 19:96.
  7. Tu A, Steinbok P. Occult tethered cord syndrome: a review. Childs Nerv Syst 2013; 29:1635.
  8. Sattar MT, Bannister CM, Turnbull IW. Occult spinal dysraphism--the common combination of lesions and the clinical manifestations in 50 patients. Eur J Pediatr Surg 1996; 6 Suppl 1:10.
  9. Hall DE, Udvarhelyi GB, Altman J. Lumbosacral skin lesions as markers of occult spinal dysraphism. JAMA 1981; 246:2606.
  10. Tavafoghi V, Ghandchi A, Hambrick GW Jr, Udverhelyi GB. Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature. Arch Dermatol 1978; 114:573.
  11. Drolet BA, Chamlin SL, Garzon MC, et al. Prospective study of spinal anomalies in children with infantile hemangiomas of the lumbosacral skin. J Pediatr 2010; 157:789.
  12. Yamada S, Knerium DS, Mandybur GM, et al. Pathophysiology of tethered cord syndrome and other complex factors. Neurol Res 2004; 26:722.
  13. Kim CH, Bak KH, Kim JM, Kim NK. Symptomatic sacral extradural arachnoid cyst associated with lumbar intradural arachnoid cyst. Clin Neurol Neurosurg 1999; 101:148.
  14. Bollini G, Cottalorda J, Jouve JL, et al. [Closed spinal dysraphism]. Ann Pediatr (Paris) 1993; 40:197.
  15. Pierre-Kahn A, Zerah M, Renier D, et al. Congenital lumbosacral lipomas. Childs Nerv Syst 1997; 13:298.
  16. 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.
  17. Sakho Y, Badiane SB, Kabre A, et al. [Lumbosacral intraspinal lipomas associated or not with a tethered cord syndrome (series of 8 cases)]. Dakar Med 1998; 43:13.
  18. Tortori-Donati P, Rossi A, Cama A. Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 2000; 42:471.
  19. Drake JM. Occult tethered cord syndrome: not an indication for surgery. J Neurosurg 2006; 104:305.
  20. 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.
  21. Yamada S, Won DJ, Siddiqi J, Yamada SM. Tethered cord syndrome: overview of diagnosis and treatment. Neurol Res 2004; 26:719.
  22. Yamada S, Lonser RR. Adult tethered cord syndrome. J Spinal Disord 2000; 13:319.
  23. Michelson DJ, Ashwal S. Tethered cord syndrome in childhood: diagnostic features and relationship to congenital anomalies. Neurol Res 2004; 26:745.
  24. Johnston LB, Borzyskowski M. Bladder dysfunction and neurological disability at presentation in closed spina bifida. Arch Dis Child 1998; 79:33.
  25. Segal LS, Czoch W, Hennrikus WL, et al. The spectrum of musculoskeletal problems in lipomyelomeningocele. J Child Orthop 2013; 7:513.
  26. Cardoso M, Keating RF. Neurosurgical management of spinal dysraphism and neurogenic scoliosis. Spine (Phila Pa 1976) 2009; 34:1775.
  27. Hilal SK, Marton D, Pollack E. Diastematomyelia in children. Radiographic study of 34 cases. Radiology 1974; 112:609.
  28. Valentini LG, Selvaggio G, Erbetta A, et al. Occult spinal dysraphism: lessons learned by retrospective analysis of 149 surgical cases about natural history, surgical indications, urodynamic testing, and intraoperative neurophysiological monitoring. Childs Nerv Syst 2013; 29:1657.
  29. Golonka NR, Haga LJ, Keating RP, et al. Routine MRI evaluation of low imperforate anus reveals unexpected high incidence of tethered spinal cord. J Pediatr Surg 2002; 37:966.
  30. Mishra GP, Sharma RR, Lad SD, et al. Gluteal neuralgia - unusual presentation in an adult with intrasacral meningocele: a case report and review of literature. Neurol India 2000; 48:279.
  31. Diel J, Ortiz O, Losada RA, et al. The sacrum: pathologic spectrum, multimodality imaging, and subspecialty approach. Radiographics 2001; 21:83.
  32. 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.
  33. Muthukumar N. The "human tail": a rare cause of tethered cord: a case report. Spine (Phila Pa 1976) 2004; 29:E476.
  34. 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.
  35. Kriss VM, Desai NS. Occult spinal dysraphism in neonates: assessment of high-risk cutaneous stigmata on sonography. AJR Am J Roentgenol 1998; 171:1687.
  36. Sewell MJ, Chiu YE, Drolet BA. Neural tube dysraphism: review of cutaneous markers and imaging. Pediatr Dermatol 2015; 32:161.
  37. Drolet BA, Boudreau C. When good is not good enough: the predictive value of cutaneous lesions of the lumbosacral region for occult spinal dysraphism. Arch Dermatol 2004; 140:1153.
  38. Goldberg NS, Hebert AA, Esterly NB. Sacral hemangiomas and multiple congenital abnormalities. Arch Dermatol 1986; 122:684.
  39. Gomi A, Oguma H, Furukawa R. Sacrococcygeal dimple: new classification and relationship with spinal lesions. Childs Nerv Syst 2013; 29:1641.
  40. Caldarelli M, Di Rocco C. Diagnosis of Chiari I malformation and related syringomyelia: radiological and neurophysiological studies. Childs Nerv Syst 2004; 20:332.
  41. Wilson DA, Prince JR. John Caffey award. MR imaging determination of the location of the normal conus medullaris throughout childhood. AJR Am J Roentgenol 1989; 152:1029.
  42. Barson AJ. The vertebral level of termination of the spinal cord during normal and abnormal development. J Anat 1970; 106:489.
  43. Khoury AE, Hendrick EB, McLorie GA, et al. Occult spinal dysraphism: clinical and urodynamic outcome after division of the filum terminale. J Urol 1990; 144:426.
  44. Wehby MC, O'Hollaren PS, Abtin K, et al. Occult tight filum terminale syndrome: results of surgical untethering. Pediatr Neurosurg 2004; 40:51.
  45. Lavallée LT, Leonard MP, Dubois C, Guerra LA. Urodynamic testing--is it a useful tool in the management of children with cutaneous stigmata of occult spinal dysraphism? J Urol 2013; 189:678.
  46. Guillen A, Costa JM. Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child. Acta Neurochir (Wien) 2004; 146:187.
  47. Kulkarni AV, Pierre-Kahn A, Zerah M. Spontaneous regression of congenital spinal lipomas of the conus medullaris. Report of two cases. J Neurosurg 2004; 101:226.
  48. Valentini LG, Selvaggio G, Visintini S, et al. Tethered cord: natural history, surgical outcome and risk for Chiari malformation 1 (CM1): a review of 110 detethering. Neurol Sci 2011; 32 Suppl 3:S353.
  49. Kulkarni AV, Pierre-Kahn A, Zerah M. Conservative management of asymptomatic spinal lipomas of the conus. Neurosurgery 2004; 54:868.
  50. Royo-Salvador MB, Solé-Llenas J, Doménech JM, González-Adrio R. Results of the section of the filum terminale in 20 patients with syringomyelia, scoliosis and Chiari malformation. Acta Neurochir (Wien) 2005; 147:515.
  51. Veenboer PW, Bosch JL, van Asbeck FW, de Kort LM. Paucity of evidence for urinary tract outcomes in closed spinal dysraphism: a systematic review. BJU Int 2013; 112:1009.
  52. Steinbok P, Kariyattil R, MacNeily AE. Comparison of section of filum terminale and non-neurosurgical management for urinary incontinence in patients with normal conus position and possible occult tethered cord syndrome. Neurosurgery 2007; 61:550.
  53. Aufschnaiter K, Fellner F, Wurm G. Surgery in adult onset tethered cord syndrome (ATCS): review of literature on occasion of an exceptional case. Neurosurg Rev 2008; 31:371.