Skip to main content

Advertisement

SpringerLink
Log in

Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes

  • Original Paper
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Purpose

Sacral agenesis (SA), or caudal regression syndrome, is a congenital malformation of the spine of varying degree of severity. The aim of our study was to identify associated impairments in structure and function of the orthopedic, neurological, cardiopulmonary, genitourinary, and gastrointestinal systems, and to evaluate their impact on function.

Methods

This was a retrospective case series analysis of 38 patients with SA. Patients were divided into two groups: SA with myelomeningocele (group 1) and without myelomeningocele (group 2). Between-group comparisons in terms of the features of the SA, impairments in associated systems, impact on gross motor function, need for surgery, and association with prenatal screening and maternal gestational diabetes were evaluated.

Results

The majority of comorbidities were orthopedic and neurological in nature. Impairments in sphincter control and independent transferring were more prevalent in group 1, resulting in lower function. Scoliosis, kyphosis, and hip dislocation/subluxation were the most common orthopedic problems, with a higher prevalence of kyphosis in group 1. The requirement for neurosurgery was significantly higher in group 1.

Conclusions

Orthopedic and neurological comorbidities are commonly associated with SA and are more prevalent in the presence of a myelomeningocele. As the impairments impact a child’s ability for maximum function, early identification and intervention is required to correct or ameliorate the impairment.

Level of Evidence: Level IV.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Phillips WA (2001) Sacral agenesis. In: Weinstein SL (ed) The pediatric spine: principles and practice, vol 1. Lippincott Williams and Wilkins, New York, pp 193–201

    Google Scholar 

  2. Jeelani Y, Mosich GM, McComb JG (2013) Closed neural tube defects in children with caudal regression. Childs Nerv Syst 29:1451–1457

    Article  PubMed  Google Scholar 

  3. Andrish J, Kalamchi A, MacEwen GD (1979) Sacral agenesis: a clinical evaluation of its management, heredity, and associated anomalies. Clin Orthop Relat Res 139:52–57

    PubMed  Google Scholar 

  4. Bauman JA, Schwartz DM, Welch WC, Sutton WLN (2011) Congenital anomalies of the spinal cord. Herkowitz HN, Garfin SR, Eismont FJ, Bell GR, Balderston RA. Rothmann-Simone The Spine 6th Edition, Vol 1, 590–591, Elsevier Saunders, Phildelphia.

  5. Estin D, Cohen A (1995) Caudal agenesis and associated caudal spinal cord malformations. Neurosurgery Clin N Am 6:377–391

    CAS  Google Scholar 

  6. Pang D (1993) Sacral agenesis and caudal spinal cord malformations. Neurosurgery 32:755–78, discussion 778–9

    Article  CAS  PubMed  Google Scholar 

  7. Guille JT, Benevides R, Dealba CC et al (2002) Lumbosacral agenesis: a new classification correlating spinal deformity and ambulatory potential. J Bone Joint Surg Am 84:32–38

    PubMed  Google Scholar 

  8. Banta JV, Nichols O (1969) Sacral agenesis. J Bone Joint Surg Am 51:693–703

    CAS  PubMed  Google Scholar 

  9. Phillips WA, Cooperman DR, Lindquist TC et al (1982) Orthopaedic management of lumbosacral agenesis: long-term follow-up. J Bone Joint Surg Am 64:1282–1294

    CAS  PubMed  Google Scholar 

  10. Richards BS (1988) Partial sacral agenesis with congenital hip dislocation. Orthopedics 11:973–977

  11. White RI, Klauber GT (1976) Sacral agenesis. Analysis of 22 cases. Urology 8:521–525

    Article  CAS  PubMed  Google Scholar 

  12. Renshaw TS (1978) Sacral agenesis. J Bone Joint Surg Am 60:373–383

    CAS  PubMed  Google Scholar 

  13. Caird MS, Hall JM, Bloom DA et al (2007) Outcome study of children, adolescents, and adults with sacral agenesis. J Pediatr Orthop 27:682–685

    Article  PubMed  Google Scholar 

  14. O’Neill O, Piatt J, Mitchell P, Roman-Goldstein S (1995) Agenesis and dysgenesis of the sacrum: neurosurgical implications. Pediatr Neurosurg 22:20–28

    Article  PubMed  Google Scholar 

  15. Russell DJ, Rosenbaum PL, Cadman DT et al (1989) The gross motor function measure: a means to evaluate the effects of physical therapy. Dev Med Child Neurol 31:341–352

    Article  CAS  PubMed  Google Scholar 

  16. Palisano R, Rosenbaum P, Walter S et al (1997) Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol 39:214–223

    Article  CAS  PubMed  Google Scholar 

  17. Küçükdeveci AA, Yavuzer G, Elhan AH et al (2001) Adaptation of the functional independence measure for use in Turkey. Clin Rehabil 15:311–319

    Article  PubMed  Google Scholar 

  18. Aybay C, Erkin G, Elhan AH et al (2007) ADL assessment of nondisabled Turkish children with the WeeFIM instrument. Am J Phys Med Rehabil 86:176–182

    Article  PubMed  Google Scholar 

  19. Rusnak SL, Driscoll SG (1965) Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 35:989–995

    CAS  PubMed  Google Scholar 

  20. Currarino G, Coln D, Votteler T (1981) Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol 137(2):395–398

    Article  CAS  PubMed  Google Scholar 

  21. Kole MJ, Fridley JS, Jea A, Bollo RJ (2014) Currarino syndrome and spinal dysraphism. J Neurosurg Pediatr 13(6):685–689

    Article  PubMed  Google Scholar 

  22. Duru S, Karabagli H, Turkoglu E, Erşahin Y (2014) Currarino syndrome: report of five consecutive patients. Childs Nerv Syst 30(3):547–552

    Article  PubMed  Google Scholar 

  23. Emami-Naeini P, Rahbar Z, Nejat F et al (2010) Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis. Neurosurgery 67:894–900

    Article  PubMed  Google Scholar 

  24. Griffet J, Leroux J, Hayek TE (2011) Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis. Eur Spine J 20:161–165

    Article  Google Scholar 

  25. Yazıcı M, Akel I, Demirkiran HI (2011) Lumbopelvic fusion with a new fixation technique in lumbosacral agenesis: three cases. J Child Orthop 5:55–61

    Article  PubMed  PubMed Central  Google Scholar 

  26. Foster BK, Furness ME, Mulpuri K (2002) Prenatal ultrasonography in antenatal orthopaedics: a new subspecialty. J Pediatr Orthop 22:404–409

    PubMed  Google Scholar 

  27. Wilmshurst JM, Kelly R, Borzyskowski M (1999) Presentation and outcome of sacral agenesis: 20 years’ experience. Dev Med Child Neurol 41:806–812

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

The authors gratefully acknowledge the role of Dr. Aysegul Bursali for leading the authors to have an awareness in the orthopedic care of the children with sacral agenesis, and the support of Dr. Behrooz A. Akbarnia for his kind assistance in reviewing and editing the manuscript.

Author information

Authors and Affiliations

  1. Metin Sabanci Baltalimani Bone Diseases Training and Research Hospital, Baltalimani, 34470 Sariyer, Istanbul, Turkey

    Mehmet Bülent Balioğlu, Yunus Emre Akman, Hanifi Ucpunar, Akif Albayrak, Deniz Kargın & Yunus Atıcı

  2. Dogubayazit State Hospital, Doğubeyazıt, Agrı, Turkey

    Abdül Fettah Büyük

Authors
  1. Mehmet Bülent Balioğlu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yunus Emre Akman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hanifi Ucpunar
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Akif Albayrak
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Deniz Kargın
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yunus Atıcı
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Abdül Fettah Büyük
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Mehmet Bülent Balioğlu.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Balioğlu, M.B., Akman, Y.E., Ucpunar, H. et al. Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst 32, 1693–1702 (2016). https://doi.org/10.1007/s00381-016-3022-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-016-3022-5

Keywords

Search

Navigation