Vertebral anomalies associated with anorectal malformations incidentally found on contrast studies: a case series

Felicia Nike; Pande Putu Yuli Anandasari

doi:10.15562/bmj.v11i3.3679

Vertebral anomalies associated with anorectal malformations incidentally found on contrast studies: a case series

Felicia Nike ,

Pande Putu Yuli Anandasari ,

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DOI: https://doi.org/10.15562/bmj.v11i3.3679 |
Published: 2022-10-23

Abstract

Background: Spinal congenital malformations are closely associated with other congenital anomalies, are usually asymptomatic and be found incidentally. Moreover, spine abnormalities such as hemivertebra may cause further complications if left untreated. Among patients with VACTERL anomalies, spine anomalies account for 60-95% of them. This report aimed to describe rare and interesting cases of spinal malformation in children to provide further information on the importance of a proper approach in such cases.

Case Presentation: We present three pediatric cases of vertebral anomalies associated with anorectal malformations incidentally found in contrast studies. All patients have a history of anorectal abnormalities at birth and are referred to the hospital for contrast studies. The first case found semi-segmented hemivertebra at T8-9 levels, cleft at T10 level and high-type anorectal malformations (ARMs). The second case showed unsegmented hemivertebra at the level of L1 and butterfly vertebra at T10, approximately at the same level as the skin lesion, with the possibility of occult spina bifida and high-type ARMs. The third case revealed bilateral vesicoureteral reflux (VUR), grade 1 right hydroureteronephrosis and left hydroureter, with semi-segmented hemivertebra at the level of L3, unsegmented hemivertebra at L4-5 and an extra lumbar vertebra, possibly a lumbosacral transitional vertebra (LSTV).

Conclusion: Thorough screening and other examinations such as contrast studies could reduce their morbidity as more sophisticated imaging may be done to better visualize the anatomical malformation.

References

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Stevenson RE, Hunter AGW. Considering the embryopathogenesis of VACTERL association. Mol Syndromol. 2013;4(1–2):7–15.
Mohanty SP, Pai Kanhangad M, Narayana Kurup JK, Saiffudeen S. Vertebral, intraspinal and other organ anomalies in congenital scoliosis. European Spine Journal. 2020;29(10):2449–56.
Alamo L, Meyrat BJ, Meuwly J-Y, Meuli RA, Gudinchet F. Anorectal malformations: finding the pathway out of the labyrinth. Radiographics. 2013;33(2):491–512.
Kapetanakis S, Giovannopoulou E, Nastoulis E, Demetriou T. Butterfly vertebra. A case report and a short review of the literature. Folia Morphol (Warsz). 2016;75(1):117–21.
Trenga AP, Singla A, Feger MA, Abel MF. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging. J Child Orthop. 2016;10(4):343–52.
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Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. The Spine Journal. 2005;5(5):564–76.
Goldstein I, Makhoul IR, Weissman A, Drugan A. Hemivertebra: prenatal diagnosis, incidence and characteristics. Fetal Diagn Ther. 2005;20(2):121–6.
Yang JH, Chang D-G, Suh SW, Kim W, Park J. Clinical and radiological outcomes of hemivertebra resection for congenital scoliosis in children under age 10 years: More than 5-year follow-up. Medicine. 2020;99(32).
Bagheri F, Razi A, Birjandinejad A, Amel Farzad S, Peivandi MT, Habibzade Shojaei SR. Congenital Scoliosis: A Current Concepts Review. J Pediatr Rev. 2021;9(2):127–36.
Hopkins RM, Jh A. Congenital ‘butterfly vertebra’associated with low back pain: a case report. Journal of Manual & Manipulative Therapy. 2015;23(2):93–100.
Yamini M, Sridevi KS, Babu NP, Chetty NG. Faun tail nevus. Indian Dermatol Online J. 2011;2(1):23.
Huang H, Wang L-F. Radiological changes of spine and liver in a case of Alagille syndrome. Quant Imaging Med Surg. 2018;8(3):368.
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[1] Mahadevan V. Anatomy of the vertebral column. Surgery (Oxford). 2018;36(7):327–32. Available from: https://www.sciencedirect.com/science/article/pii/S0263931918300978

[2] Passias PG, Poorman GW, Jalai CM, Diebo BG, Vira S, Horn SR, et al. Incidence of congenital spinal abnormalities among pediatric patients and their association with scoliosis and systemic anomalies. Journal of Pediatric Orthopaedics. 2019;39(8):e608–13.

[3] Stevenson RE, Hunter AGW. Considering the embryopathogenesis of VACTERL association. Mol Syndromol. 2013;4(1–2):7–15.

[4] Mohanty SP, Pai Kanhangad M, Narayana Kurup JK, Saiffudeen S. Vertebral, intraspinal and other organ anomalies in congenital scoliosis. European Spine Journal. 2020;29(10):2449–56.

[5] Alamo L, Meyrat BJ, Meuwly J-Y, Meuli RA, Gudinchet F. Anorectal malformations: finding the pathway out of the labyrinth. Radiographics. 2013;33(2):491–512.

[6] Kapetanakis S, Giovannopoulou E, Nastoulis E, Demetriou T. Butterfly vertebra. A case report and a short review of the literature. Folia Morphol (Warsz). 2016;75(1):117–21.

[7] Trenga AP, Singla A, Feger MA, Abel MF. Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging. J Child Orthop. 2016;10(4):343–52.

[8] Kalamchi L, Valle C. Embryology, Vertebral Column Development. StatPearls [Internet]. 2022.

[9] Kaplan KM, Spivak JM, Bendo JA. Embryology of the spine and associated congenital abnormalities. The Spine Journal. 2005;5(5):564–76.

[10] Goldstein I, Makhoul IR, Weissman A, Drugan A. Hemivertebra: prenatal diagnosis, incidence and characteristics. Fetal Diagn Ther. 2005;20(2):121–6.

[11] Yang JH, Chang D-G, Suh SW, Kim W, Park J. Clinical and radiological outcomes of hemivertebra resection for congenital scoliosis in children under age 10 years: More than 5-year follow-up. Medicine. 2020;99(32).

[12] Bagheri F, Razi A, Birjandinejad A, Amel Farzad S, Peivandi MT, Habibzade Shojaei SR. Congenital Scoliosis: A Current Concepts Review. J Pediatr Rev. 2021;9(2):127–36.

[13] Hopkins RM, Jh A. Congenital ‘butterfly vertebra’associated with low back pain: a case report. Journal of Manual & Manipulative Therapy. 2015;23(2):93–100.

[14] Yamini M, Sridevi KS, Babu NP, Chetty NG. Faun tail nevus. Indian Dermatol Online J. 2011;2(1):23.

[15] Huang H, Wang L-F. Radiological changes of spine and liver in a case of Alagille syndrome. Quant Imaging Med Surg. 2018;8(3):368.

[16] Morbée L, Chen M, Herregods N, Pullens P, Jans LBO. MRI-based synthetic CT of the lumbar spine: Geometric measurements for surgery planning in comparison with CT. Eur J Radiol. 2021;144:109999.

Vertebral anomalies associated with anorectal malformations incidentally found on contrast studies: a case series

Abstract

References

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