Diagnostic Considerations

Meningocele and myelomeningocele must be differentiated. Meningocele is the herniated protrusion of only the meninges through a defect in the cranium or vertebral column. This lesion does not contain neural tissue in the sac.

Spina bifida occulta is a common radiographic finding characterized by simple lack of fusion of vertebral spinous processes. The spinal cord itself is normal.

Tethered spinal cord

As previously mentioned, the diagnosis of tethered cord syndrome is confirmed on the basis of clinical signs and symptoms, which can include pain, sensory changes, spasticity, and progressive scoliosis.

However, uncontrolled hydrocephalus and Chiari II malformation must be excluded as causes of these symptoms. Moreover, symptoms similar to those of tethered cord syndrome can also be caused by other intraspinal pathologies, such as the following:

Mass lesions of the cord
Diastematomyelia
Cord cavitation and narrowing
Adhesions
Dural bands

Workup

Vinck A, Nijhuis-van der Sanden MW, Roeleveld NJ, et al. Motor profile and cognitive functioning in children with spina bifida. Eur J Paediatr Neurol. 2010 Jan. 14(1):86-92. [QxMD MEDLINE Link].
Radcliff E, Cassell CH, Laditka SB, et al. Factors associated with the timeliness of postnatal surgical repair of spina bifida. Childs Nerv Syst. 2016 Aug. 32 (8):1479-87. [QxMD MEDLINE Link]. [Full Text].
Thompson DN. Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles. Prenat Diagn. 2009 Apr. 29(4):412-9. [QxMD MEDLINE Link].
MacGregor TL, James HE, Everett L, Childers DO Jr. Pediatric Neurosurgery Patients Need More than a Pediatric Neurosurgeon. Part II. A Clinical Report: In the USA Lack of Parent/Caregiver Compliance Interferes with the Patient Care Sequence. Pediatr Neurosurg. 2016. 51 (5):229-35. [QxMD MEDLINE Link].
Campbell F, Biggs K, Aldiss SK, et al. Transition of care for adolescents from paediatric services to adult health services. Cochrane Database Syst Rev. 2016 Apr 29. 4:CD009794. [QxMD MEDLINE Link].
Mukherjee S, Pasulka J. Care for Adults with Spina Bifida: Current State and Future Directions. Top Spinal Cord Inj Rehabil. 2017 Spring. 23 (2):155-67. [QxMD MEDLINE Link]. [Full Text].
Jacobson LA, Tarazi RA, McCurdy MD, Schultz S, Levey E, Mahone EM, et al. The Kennedy Krieger Independence Scales-Spina Bifida Version: a measure of executive components of self-management. Rehabil Psychol. 2013 Feb. 58(1):98-105. [QxMD MEDLINE Link].
Cancel D, Capoor J. Patient safety in the rehabilitation of children with spinal cord injuries, spina bifida, neuromuscular disorders, and amputations. Phys Med Rehabil Clin N Am. 2012 May. 23(2):401-22. [QxMD MEDLINE Link].
Houtrow AJ, Maselli JH, Okumura MJ. Inpatient care for children, ages 1-20 years, with spina bifida in the United States. J Pediatr Rehabil Med. 2013. 6(2):95-101. [QxMD MEDLINE Link].
Stubberud J, Langenbahn D, Levine B, Stanghelle J, Schanke AK. Goal management training of executive functions in patients with spina bifida: a randomized controlled trial. J Int Neuropsychol Soc. 2013 Jul. 19(6):672-85. [QxMD MEDLINE Link].
Fletcher JM, Copeland K, Frederick JA, et al. Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. J Neurosurg. 2005 Apr. 102(3 Suppl):268-79. [QxMD MEDLINE Link].
Flores MB, Manella KJ, Ardolino EM. Relationship between Movement Quality, Functional Ambulation Status, and Spatiotemporal Gait Parameters in Children with Myelomeningocele. Phys Occup Ther Pediatr. 2020 Mar 6. 1-13. [QxMD MEDLINE Link].
McLone DG, Knepper PA. The cause of Chiari II malformations: a unified theory. Pediatr Neurosci. 1989. 15:1-12.
Polfuss M, Bandini LG, Sawin KJ. Obesity Prevention for Individuals with Spina Bifida. Curr Obes Rep. 2017 Jun. 6 (2):116-26. [QxMD MEDLINE Link].
Ausili E, Focarelli B, Tabacco F, et al. Bone mineral density and body composition in a myelomeningocele children population: effects of walking ability and sport activity. Eur Rev Med Pharmacol Sci. 2008 Nov-Dec. 12(6):349-54. [QxMD MEDLINE Link].
Wu YW, Croen LA, Henning L, et al. Potential association between infertility and spinal neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol. 2006 Oct. 76(10):718-22. [QxMD MEDLINE Link].
Canfield MA, Ramadhani TA, Shaw GM, et al. Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2009 Jul. 85(7):637-46. [QxMD MEDLINE Link].
Milunsky A, Jick H, Jick SS, Bruell CL, MacLaughlin DS, Rothman KJ, et al. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA. 1989 Nov 24. 262(20):2847-52. [QxMD MEDLINE Link].
Centers for Disease Control and Prevention. Spina bifida and anencephaly before and after folic acid mandate--United States, 1995-1996 and 1999-2000. MMWR Morb Mortal Wkly Rep. 2004 May 7. 53(17):362-5. [QxMD MEDLINE Link].
Yang N, Wang L, Finnell RH, et al. Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population. Birth Defects Res A Clin Mol Teratol. 2016 Aug. 106 (8):685-95. [QxMD MEDLINE Link]. [Full Text].
Racial/ethnic differences in the birth prevalence of spina bifida - United States, 1995-2005. MMWR Morb Mortal Wkly Rep. 2009 Jan 9. 57(53):1409-13. [QxMD MEDLINE Link]. [Full Text].
Holmes LB. Does taking vitamins at the time of conception prevent neural tube defects?. JAMA. 1988 Dec 2. 260(21):3181. [QxMD MEDLINE Link].
Mulinare J, Cordero JF, Erickson JD, Berry RJ. Periconceptional use of multivitamins and the occurrence of neural tube defects. JAMA. 1988 Dec 2. 260(21):3141-5. [QxMD MEDLINE Link].
Cotter AM, Daly SF. Neural tube defects: is a decreasing prevalence associated with a decrease in severity?. Eur J Obstet Gynecol Reprod Biol. 2005 Apr 1. 119(2):161-3. [QxMD MEDLINE Link].
Blencowe H, Kancherla V, Moorthie S, Darlison MW, Modell B. Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. Ann N Y Acad Sci. 2018 Feb. 1414 (1):31-46. [QxMD MEDLINE Link].
Centers for Disease Control and Prevention. Current Trends Economic Burden of Spina Bifida -- United States, 1980-1990. MMWR Morb Mortal Wkly Rep. Apr 21 1989;38(15):264-7. Available at http://www.cdc.gov/mmwr/preview/mmwrhtml/00001378.htm. Accessed: Mar 6 2014.
Canfield MA, Marengo L, Ramadhani TA, Suarez L, Brender JD, Scheuerle A. The prevalence and predictors of anencephaly and spina bifida in Texas. Paediatr Perinat Epidemiol. 2009 Jan. 23(1):41-50. [QxMD MEDLINE Link].
Velie EM, Shaw GM, Malcoe LH, et al. Understanding the increased risk of neural tube defect-affected pregnancies among Mexico-born women in California: immigration and anthropometric factors. Paediatr Perinat Epidemiol. 2006 May. 20(3):219-30. [QxMD MEDLINE Link].
Williams LJ, Rasmussen SA, Flores A, et al. Decline in the prevalence of spina bifida and anencephaly by race/ethnicity: 1995-2002. Pediatrics. 2005 Sep. 116(3):580-6. [QxMD MEDLINE Link].
Lindquist B, Uvebrant P, Rehn E, Carlsson G. Cognitive functions in children with myelomeningocele without hydrocephalus. Childs Nerv Syst. 2009 Aug. 25(8):969-75. [QxMD MEDLINE Link].
Oakeshott P, Hunt GM, Poulton A, Reid F. Open spina bifida: birth findings predict long-term outcome. Arch Dis Child. 2012 May. 97(5):474-6. [QxMD MEDLINE Link].
Lewis D, Tolosa JE, Kaufmann M, Goodman M, Farrell C, Berghella V. Elective cesarean delivery and long-term motor function or ambulation status in infants with meningomyelocele. Obstet Gynecol. 2004 Mar. 103(3):469-73. [QxMD MEDLINE Link].
Danzer E, Gerdes M, Bebbington MW, et al. Lower extremity neuromotor function and short-term ambulatory potential following in utero myelomeningocele surgery. Fetal Diagn Ther. 2009. 25(1):47-53. [QxMD MEDLINE Link].
Jackson EM, Schwartz DM, Sestokas AK, Zarnow DM, Adzick NS, Johnson MP, et al. Intraoperative neurophysiological monitoring in patients undergoing tethered cord surgery after fetal myelomeningocele repair. J Neurosurg Pediatr. 2014 Feb 7. [QxMD MEDLINE Link].
Hoffer MM, Feiwell E, Perry R, Perry J, Bonnett C. Functional ambulation in patients with myelomeningocele. J Bone Joint Surg Am. 1973 Jan. 55(1):137-48. [QxMD MEDLINE Link].
Barden GA, Meyer LC, Stelling FH 3rd. Myelodysplastics--fate of those followed for twenty years or more. J Bone Joint Surg Am. 1975 Jul. 57(5):643-7. [QxMD MEDLINE Link].
Dicianno BE, Kinback N, Bellin MH, et al. Depressive symptoms in adults with spina bifida. Rehabil Psychol. 2015 Aug. 60 (3):246-53. [QxMD MEDLINE Link].
McAndrew I. Adolescents and Young People with Spina Bifida, 1975-1976: A Study of the Physical Difficulties and Some of the Emotional Problems Faced by 35 Young People with Myelomengocele. Melbourne, Australia: Ability Press; 1977.
Anderson EM, Spain B. The Child with Spina Bifida. London, United Kingdom: Methuen; 1977.
Davis MC, Hopson BD, Blount JP, et al. Predictors of permanent disability among adults with spinal dysraphism. J Neurosurg Spine. 2017 Aug. 27 (2):169-77. [QxMD MEDLINE Link]. [Full Text].
Meeks JJ, Hagerty JA, Chaviano AH. Bulbar urethral ligation for managing persistent urinary incontinence in young men with myelomeningocele. BJU Int. 2009 Jul. 104(2):221-4. [QxMD MEDLINE Link].
Dicianno BE, Sherman A, Roehmer C, Zigler CK. Comorbidities Associated with Early Mortality in Adults with Spina Bifida. Am J Phys Med Rehabil. 2018 May 11. [QxMD MEDLINE Link].
da Silva SA, de Almeida MF, Moron AF, Cavalheiro S, Dastoli PA, Guinsburg R. Resuscitation at birth in neonates with meningomyelocele. J Perinat Med. 2014 Jan. 42(1):113-9. [QxMD MEDLINE Link].
Szymanski KM, Misseri R, Whittam B, et al. Mortality after bladder augmentation in children with spina bifida. J Urol. 2015 Feb. 193 (2):643-8. [QxMD MEDLINE Link].
Vachha B, Adams R. Implications of family environment and language development: comparing typically developing children to those with spina bifida. Child Care Health Dev. 2009 Sep. 35(5):709-16. [QxMD MEDLINE Link].
Akre C, Light A, Sherman L, Polvinen J, Rich M. What young people with spina bifida want to know about sex and are not being told. Child Care Health Dev. 2015 Nov. 41 (6):963-9. [QxMD MEDLINE Link].
Heller MK, Gambino S, Church P, Lindsay S, Kaufman M, McPherson AC. Sexuality and Relationships in Young People With Spina Bifida and Their Partners. J Adolesc Health. 2016 Aug. 59 (2):182-8. [QxMD MEDLINE Link].
Dias MS. Neurosurgical causes of scoliosis in patients with myelomeningocele: an evidence-based literature review. J Neurosurg. 2005 Jul. 103(1 Suppl):24-35. [QxMD MEDLINE Link].
Fichter MA, Dornseifer U, Henke J, et al. Fetal spina bifida repair--current trends and prospects of intrauterine neurosurgery. Fetal Diagn Ther. 2008. 23(4):271-86. [QxMD MEDLINE Link].
Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011 Mar 17. 364(11):993-1004. [QxMD MEDLINE Link].
Faleiros F, Pelosi G, Warschausky S, Tate D, Kappler C, Thomas E. Factors Influencing the Use of Intermittent Bladder Catheterization by Individuals With Spina Bifida in Brazil and Germany. Rehabil Nurs. 2018 Jan/Feb. 43 (1):46-51. [QxMD MEDLINE Link].
Verhoef M, Barf HA, Post MW, van Asbeck FW, Gooskens RH, Prevo AJ. Functional independence among young adults with spina bifida, in relation to hydrocephalus and level of lesion. Dev Med Child Neurol. 2006 Feb. 48(2):114-9. [QxMD MEDLINE Link].
Bier JA, Prince A, Tremont M, Msall M. Medical, functional, and social determinants of health-related quality of life in individuals with myelomeningocele. Dev Med Child Neurol. 2005 Sep. 47(9):609-12. [QxMD MEDLINE Link].
Alman BA, Bhandari M, Wright JG. Function of dislocated hips in children with lower level spina bifida. J Bone Joint Surg Br. 1996 Mar. 78(2):294-8. [QxMD MEDLINE Link].
Eichholzer M, Tönz O, Zimmermann R. Folic acid: a public-health challenge. Lancet. 2006 Apr 22. 367(9519):1352-61. [QxMD MEDLINE Link].
Robbins JM, Tilford JM, Bird TM, et al. Hospitalizations of newborns with folate-sensitive birth defects before and after fortification of foods with folic acid. Pediatrics. 2006 Sep. 118(3):906-15. [QxMD MEDLINE Link].
De Wals P, Tairou F, Van Allen MI, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 2007 Jul 12. 357(2):135-42. [QxMD MEDLINE Link].
De Wals P, Tairou F, Van Allen MI, et al. Spina bifida before and after folic acid fortification in Canada. Birth Defects Res A Clin Mol Teratol. 2008 Sep. 82(9):622-6. [QxMD MEDLINE Link].
Gong R, Wang ZP, Wang M, Gao LJ, Zhao ZT. Effects of folic acid supplementation during different pregnancy periods and relationship with the other primary prevention measures to neural tube defects. J Matern Fetal Neonatal Med. 2016 Mar 29. 1-8. [QxMD MEDLINE Link].
Bell KN, Oakley GP Jr. Update on prevention of folic acid-preventable spina bifida and anencephaly. Birth Defects Res A Clin Mol Teratol. 2009 Jan. 85(1):102-7. [QxMD MEDLINE Link].
Oakley GP Jr. The scientific basis for eliminating folic acid-preventable spina bifida: a modern miracle from epidemiology. Ann Epidemiol. 2009 Apr. 19(4):226-30. [QxMD MEDLINE Link].
Humblet M, Verpoorten C, Christiaens MH, Hirche H, Jansen K, Buyse G, et al. Long-term outcome of intravesical oxybutynin in children with detrusor-sphincter dyssynergia: With special reference to age-dependent parameters. Neurourol Urodyn. 2014 Jan 16. [QxMD MEDLINE Link].

Media Gallery

The lumbar region of a newborn baby with myelomeningocele. The skin is intact, and the placode-containing remnants of nervous tissue can be observed in the center of the lesion, which is filled with cerebrospinal fluid.
Myelomeningocele in a newborn.
Coronal, T1-weighted magnetic resonance imaging (MRI) scans of the brain show a Chiari II malformation. Note the stretching of the brainstem, aqueduct, and fourth ventricle.
Neonate with a lumbar myelomeningocele with an L5 neurologic level. Note the diaphanous sac filled with cerebrospinal fluid and containing fragile vessels in its membrane. Also, note the neural placode plastered to the dorsal surface of the sac. This patient underwent closure of his back and an untethering of his neural placode. The neural placode was circumnavigated and placed in the neural canal. A dural sleeve was fashioned in a way that reconstructed neural tube geometry.
Sagittal, T1-weighted magnetic resonance imaging (MRI) scan of a child after closure of his myelomeningocele. Child is aged 7 years. Note the spinal cord ends in the sacral region far below the normal level of T12-L1. It is tethered at the point at which the neural placode was attached to the skin defect during gestation. The MRI scan showed dorsal tethering, and the child complained of back pain and had a new foot deformity on examination. By definition, all children with a myelomeningocele have a tethered cord on MRI, but only about 20% of children require an operation to untether the spinal cord during their first decade of life, during their rapid growth spurts. Thus, the MRI scan must be placed in context of a history and examination consistent with mechanical tethering and a resultant neurologic deterioration.
Axial, T1-weighted MRI scan of a 15-year-old girl who was born with thoracic myelomeningocele, hydrocephalus, and Arnold-Chiari II syndrome. She was treated with a ventriculoperitoneal shunt. The ventricular system has a characteristic shape, with small frontal and large occipital horns, which are typical in patients with spina bifida. The shunt tube is shown in the right parietal region.

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Spina Bifida Differential Diagnoses

Diagnostic Considerations

References

Tables

Contributor Information and Disclosures

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