Spina Bifida Differential Diagnoses
- Author: Mark R Foster, MD, PhD, FACS; Chief Editor: Elizabeth A Moberg-Wolff, MD more...
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
Cord cavitation and narrowing
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. [Medline].
Thompson DN. Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles. Prenat Diagn. 2009 Apr. 29(4):412-9. [Medline].
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. [Medline].
McLone DG, Knepper PA. The cause of Chiari II malformations: a unified theory. Pediatr Neurosci. 1989. 15:1-12.
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Holmes LB. Does taking vitamins at the time of conception prevent neural tube defects?. JAMA. 1988 Dec 2. 260(21):3181. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Dicianno BE, Kinback N, Bellin MH, et al. Depressive symptoms in adults with spina bifida. Rehabil Psychol. 2015 Aug. 60 (3):246-53. [Medline].
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.
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. [Medline].
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. [Medline].
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. [Medline].
Dias MS. Neurosurgical causes of scoliosis in patients with myelomeningocele: an evidence-based literature review. J Neurosurg. 2005 Jul. 103(1 Suppl):24-35. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Eichholzer M, Tönz O, Zimmermann R. Folic acid: a public-health challenge. Lancet. 2006 Apr 22. 367(9519):1352-61. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].