Lumbopelvic Stabilization Outcome in Renshaw Type IV Sacral Agenesis: A Case Report and Review of the Literature
,
Abstract
Background: Caudal regression syndrome (CRS), also known as sacral agenesis (SA), is a rare congenital disorder characterized by malformations of the caudal spine, lower limbs, urogenital, and anorectal systems. While the exact etiology remains unknown, a strong association with maternal diabetes mellitus (DM) has been observed.
Case Report: This retrospective study includes two patients diagnosed with Renshaw type IV CRS who underwent spinopelvic fusion. Both patients presented with back pain, severe thoracolumbar (TL) kyphotic deformity, and difficulty in sitting. Postoperative outcomes demonstrated improved sitting ability, enhanced mobilization, increased self-esteem, and better overall quality of life. Conclusion: Orthopedic, neurological, and visceral anomalies are prevalent in patients with SA. Spinopelvic instability in type IV CRS significantly impairs sitting and mobilization. Surgical fusion can facilitate sitting and improve functional outcomes and cosmesis.
1. Canale ST, Beaty JH. Campbell's Operative Orthopaedics. Philadelphia, PA: Elsevier Health Sciences; 2020.
2. Guzman L, Bauer SB, Hallett M, Khoshbin S, Colodny AH, Retik AB. Evaluation and management of children with sacral agenesis. Urology. 1983;22(5):506-10. doi: 10.1016/0090- 4295(83)90230-3. [PubMed: 6649205].
3. Docimo SG, Canning D, Khoury A, Salle JLP. The Kelalis--King-- Belman textbook of clinical pediatric urology. 6th ed. Boca Raton, FL: CRC Press; 2018.
4. Emami-Naeini P, Rahbar Z, Nejat F, Kajbafzadeh A, El Khashab M. Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis. Neurosurgery.
2010;67(4):894-900. doi: 10.1227/NEU.0b013e3181eb500d. [PubMed: 20881552].
5. Wilmshurst JM, Kelly R, Borzyskowski M. Presentation and
outcome of sacral agenesis: 20 years' experience. Dev Med Child Neurol. 1999;41(12):806-12. doi: 10.1017/s0012162299001619. [PubMed: 10619278].
6. Renshaw TS. Sacral agenesis. J Bone Joint Surg Am. 1978;60(3):373-83. [PubMed: 649642].
7. Pang D. Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 1993;32(5):755-78; discussion 78-9. doi: 10.1227/00006123-199305000-00009. [PubMed: 8492851].
8. Balioğlu MB, Akman YE, Ucpunar H, Albayrak A, Kargın D, Atıcı Y, et al. Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst. 2016;32(9):1693-702. doi: 10.1007/s00381-016-3022-5. [PubMed: 26872465].
9. Passarge E, Lenz W. Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics. 1966;37(4):672-5. [PubMed: 5930030].
10. Herring JA. Tachdjian's Pediatric Orthopaedics: From the Texas Scottish Rite Hospital for Children. 6th ed. Philadelphia, PA: Elsevier Health Sciences; 2020.
11. Winn HR. Youmans and Winn Neurological Surgery E-Book: 4-Volume Set. 8th ed. Philadelphia, PA: Elsevier Health Sciences; 2022.
12. Morera C, Nurko S. Rectal manometry in patients with isolated sacral agenesis. J Pediatr Gastroenterol Nutr. 2003;37(1):47-52. doi: 10.1097/00005176-200307000-00008. [PubMed: 12827005].
13. Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981;137(2):395-8. doi: 10.2214/ajr.137.2.395. [PubMed: 6789651].
14. Bernbeck B, Schürfeld-Fürstenberg K, Ketteler K, Kemperdick H, Schroten H. Unilateral pulmonary atresia with total sacral agenesis and other congenital defects. Clin Dysmorphol. 2004;13(1):47-8. doi: 10.1097/00019605-200401000-00014. [PubMed: 15127768].
15. Emami-Naeini P, Nejat F, Rahbar Z, Kajbafzadeh A, El Khashab M. Urological manifestations of sacral agenesis. J Pediatr Urol. 2012;8(2):181-6. doi: 10.1016/j.jpurol.2011.02.004. [PubMed: 21398186].
16. Sharma S, Sharma V, Awasthi B, Sehgal M, Singla DA. Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. J Clin Diagn Res. 2015;9(6): Rd08-9. doi: 10.7860/jcdr/2015/13694.6113. [PubMed: 26266174]. [PubMed Central: PMC4525563].
17. Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet. 2000;37(8):561-6. doi: 10.1136/jmg.37.8.561. [PubMed: 10922380]. [PubMed Central: PMC1734652].
18. Lee SC, Chun YS, Jung SE, Park KW, Kim WK. Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases. J Pediatr Surg. 1997;32(1):58- 61. doi: 10.1016/s0022-3468(97)90094-4. [PubMed: 9021570].
19. 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(8):522-4. doi: 10.1007/PL00007296. [PubMed: 11007505].
20. Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet. 1995;11(1):93- 5. doi: 10.1038/ng0995-93. [PubMed: 7550324].
21. O'Riordain DS, O'Connell PR, Kirwan WO. Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. Br J Surg. 1991;78(5):536-8. doi: 10.1002/bjs.1800780507. [PubMed: 2059799].
22. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 1998;20(4):358-61. doi: 10.1038/3828. [PubMed: 9843207].
23. Pio L, Piatelli G, Rossi A, Scarsi P, Merello E, Capra V, et al. Urological outcome in patients with Currarino syndrome. J Pediatr Surg. 2014;49(11):1643-6. doi: 10.1016/j.jpedsurg.2014.05.038. [PubMed: 25475810].
24. Jasiewicz B, Kacki W. Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View. Children (Basel)2023;10(3). doi: 10.3390/children10030589. [PubMed: 36980147].
[PubMed Central: PMC10047641].
25. Phillips WA, Cooperman DR, Lindquist TC, Sullivan RC, Millar EA. Orthopaedic management of lumbosacral agenesis. Long- term follow-up. J Bone Joint Surg Am. 1982;64(9):1282-94. [PubMed: 7142236].
26. Jeelani Y, Mosich GM, McComb JG. Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 2013;29(9):1451-7. doi: 10.1007/s00381-013-2119-3. [PubMed: 24013318].
27. Griffet J, Leroux J, El Hayek T. Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis. Eur Spine J. 2011;20 Suppl 2(Suppl 2):S161-5. doi: 10.1007/s00586-010- 1458-y. [PubMed: 20502924]. [PubMed Central: PMC3111521].
28. Yazici M, Akel I, Demirkiran HG. Lumbopelvic fusion with a new fixation technique in lumbosacral agenesis: three cases. J Child Orthop. 2011;5(1):55-61. doi: 10.1007/s11832-010-0322-2. [PubMed: 22295050]. [PubMed Central: PMC3024487].
29. Vissarionov S, Schroder JE, Kokushin D, Murashko V, Belianchikov S, Kaplan L. Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. Global Spine J. 2019;9(3):260-5. doi: 10.1177/2192568218779984. [PubMed: 31192092]. [PubMed Central: PMC6542167].
30. Muthukumar N. Surgical treatment of nonprogressive neurological deficits in children with sacral agenesis. Neurosurgery. 1996;38(6):1133-7; discussion 7-8. doi: 10.1097/00006123-199606000-00014. [PubMed: 8727143].
31. Bevanda K, Memidžan I, Boban-Raguž A. Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9. Radiol Case Rep. 2020;15(8):1184-8. doi: 10.1016/j.radcr.2020.05.023. [PubMed: 32550955]. [PubMed Central: PMC7292899].
32. Ferland CE, Sardar ZM, Abduljabbar F, Arlet V, Ouellet JA. Bilateral vascularized rib grafts to promote spinopelvic fixation in patients with sacral agenesis and spinopelvic dissociation: a new surgical technique. Spine J. 2015;15(12):2583-92. doi: 10.1016/j.spinee.2015.08.066. [PubMed: 26456853].
2. Guzman L, Bauer SB, Hallett M, Khoshbin S, Colodny AH, Retik AB. Evaluation and management of children with sacral agenesis. Urology. 1983;22(5):506-10. doi: 10.1016/0090- 4295(83)90230-3. [PubMed: 6649205].
3. Docimo SG, Canning D, Khoury A, Salle JLP. The Kelalis--King-- Belman textbook of clinical pediatric urology. 6th ed. Boca Raton, FL: CRC Press; 2018.
4. Emami-Naeini P, Rahbar Z, Nejat F, Kajbafzadeh A, El Khashab M. Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis. Neurosurgery.
2010;67(4):894-900. doi: 10.1227/NEU.0b013e3181eb500d. [PubMed: 20881552].
5. Wilmshurst JM, Kelly R, Borzyskowski M. Presentation and
outcome of sacral agenesis: 20 years' experience. Dev Med Child Neurol. 1999;41(12):806-12. doi: 10.1017/s0012162299001619. [PubMed: 10619278].
6. Renshaw TS. Sacral agenesis. J Bone Joint Surg Am. 1978;60(3):373-83. [PubMed: 649642].
7. Pang D. Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 1993;32(5):755-78; discussion 78-9. doi: 10.1227/00006123-199305000-00009. [PubMed: 8492851].
8. Balioğlu MB, Akman YE, Ucpunar H, Albayrak A, Kargın D, Atıcı Y, et al. Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst. 2016;32(9):1693-702. doi: 10.1007/s00381-016-3022-5. [PubMed: 26872465].
9. Passarge E, Lenz W. Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics. 1966;37(4):672-5. [PubMed: 5930030].
10. Herring JA. Tachdjian's Pediatric Orthopaedics: From the Texas Scottish Rite Hospital for Children. 6th ed. Philadelphia, PA: Elsevier Health Sciences; 2020.
11. Winn HR. Youmans and Winn Neurological Surgery E-Book: 4-Volume Set. 8th ed. Philadelphia, PA: Elsevier Health Sciences; 2022.
12. Morera C, Nurko S. Rectal manometry in patients with isolated sacral agenesis. J Pediatr Gastroenterol Nutr. 2003;37(1):47-52. doi: 10.1097/00005176-200307000-00008. [PubMed: 12827005].
13. Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981;137(2):395-8. doi: 10.2214/ajr.137.2.395. [PubMed: 6789651].
14. Bernbeck B, Schürfeld-Fürstenberg K, Ketteler K, Kemperdick H, Schroten H. Unilateral pulmonary atresia with total sacral agenesis and other congenital defects. Clin Dysmorphol. 2004;13(1):47-8. doi: 10.1097/00019605-200401000-00014. [PubMed: 15127768].
15. Emami-Naeini P, Nejat F, Rahbar Z, Kajbafzadeh A, El Khashab M. Urological manifestations of sacral agenesis. J Pediatr Urol. 2012;8(2):181-6. doi: 10.1016/j.jpurol.2011.02.004. [PubMed: 21398186].
16. Sharma S, Sharma V, Awasthi B, Sehgal M, Singla DA. Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. J Clin Diagn Res. 2015;9(6): Rd08-9. doi: 10.7860/jcdr/2015/13694.6113. [PubMed: 26266174]. [PubMed Central: PMC4525563].
17. Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet. 2000;37(8):561-6. doi: 10.1136/jmg.37.8.561. [PubMed: 10922380]. [PubMed Central: PMC1734652].
18. Lee SC, Chun YS, Jung SE, Park KW, Kim WK. Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases. J Pediatr Surg. 1997;32(1):58- 61. doi: 10.1016/s0022-3468(97)90094-4. [PubMed: 9021570].
19. 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(8):522-4. doi: 10.1007/PL00007296. [PubMed: 11007505].
20. Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet. 1995;11(1):93- 5. doi: 10.1038/ng0995-93. [PubMed: 7550324].
21. O'Riordain DS, O'Connell PR, Kirwan WO. Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. Br J Surg. 1991;78(5):536-8. doi: 10.1002/bjs.1800780507. [PubMed: 2059799].
22. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 1998;20(4):358-61. doi: 10.1038/3828. [PubMed: 9843207].
23. Pio L, Piatelli G, Rossi A, Scarsi P, Merello E, Capra V, et al. Urological outcome in patients with Currarino syndrome. J Pediatr Surg. 2014;49(11):1643-6. doi: 10.1016/j.jpedsurg.2014.05.038. [PubMed: 25475810].
24. Jasiewicz B, Kacki W. Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View. Children (Basel)2023;10(3). doi: 10.3390/children10030589. [PubMed: 36980147].
[PubMed Central: PMC10047641].
25. Phillips WA, Cooperman DR, Lindquist TC, Sullivan RC, Millar EA. Orthopaedic management of lumbosacral agenesis. Long- term follow-up. J Bone Joint Surg Am. 1982;64(9):1282-94. [PubMed: 7142236].
26. Jeelani Y, Mosich GM, McComb JG. Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 2013;29(9):1451-7. doi: 10.1007/s00381-013-2119-3. [PubMed: 24013318].
27. Griffet J, Leroux J, El Hayek T. Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis. Eur Spine J. 2011;20 Suppl 2(Suppl 2):S161-5. doi: 10.1007/s00586-010- 1458-y. [PubMed: 20502924]. [PubMed Central: PMC3111521].
28. Yazici M, Akel I, Demirkiran HG. Lumbopelvic fusion with a new fixation technique in lumbosacral agenesis: three cases. J Child Orthop. 2011;5(1):55-61. doi: 10.1007/s11832-010-0322-2. [PubMed: 22295050]. [PubMed Central: PMC3024487].
29. Vissarionov S, Schroder JE, Kokushin D, Murashko V, Belianchikov S, Kaplan L. Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome. Global Spine J. 2019;9(3):260-5. doi: 10.1177/2192568218779984. [PubMed: 31192092]. [PubMed Central: PMC6542167].
30. Muthukumar N. Surgical treatment of nonprogressive neurological deficits in children with sacral agenesis. Neurosurgery. 1996;38(6):1133-7; discussion 7-8. doi: 10.1097/00006123-199606000-00014. [PubMed: 8727143].
31. Bevanda K, Memidžan I, Boban-Raguž A. Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9. Radiol Case Rep. 2020;15(8):1184-8. doi: 10.1016/j.radcr.2020.05.023. [PubMed: 32550955]. [PubMed Central: PMC7292899].
32. Ferland CE, Sardar ZM, Abduljabbar F, Arlet V, Ouellet JA. Bilateral vascularized rib grafts to promote spinopelvic fixation in patients with sacral agenesis and spinopelvic dissociation: a new surgical technique. Spine J. 2015;15(12):2583-92. doi: 10.1016/j.spinee.2015.08.066. [PubMed: 26456853].
| Files | ||
| Issue | Vol 11 No 3 (2025) | |
| Section | Case Report | |
| DOI | https://doi.org/10.18502/jost.v11i3.19409 | |
| Keywords | ||
| Spinal Fusion Sacral Agenesis Caudal Regression Syndrome Spinopelvic Fixation | ||
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How to Cite
1.
Shabani S, Malekzadeh M, Moazzami M, Zarei M. Lumbopelvic Stabilization Outcome in Renshaw Type IV Sacral Agenesis: A Case Report and Review of the Literature. J Orthop Spine Trauma. 2025;11(3):133-6.
