Sacral Agenesia, Teratoma Cyst and Vaginal Abnormality in a Young Woman(Case Report)

Document Type : Case Report

Authors

1 Student Research Committee, Clinical Research Development Unit of Shahid Madani Hospital , School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.

2 Bone Joint and Related Tissues Research Center, Akhtar Orthopedic Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

3 Department of Orthopedic Surgery, Shahid Madani Hospital, Alborz University of Medical Sciences, Karaj, Iran.

4 Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.

Abstract
Abstract
This case report outlines the situation of a young woman suffering from intense back pain, along with pelvic tilt and rotation. Due to the extent of her postural deformity and the profound effect on her quality of life, a spinopelvic fixation was performed to, halt any progression of the deformity, and relieve her pain. During the procedural process, a mass was detected in the sacral area. It was, later found that her vagina had two separate openings, putting the case in the syndromic sacral agenesis group. The importance of genetic testing, multi-disciplinary evaluation and significance of continued follow-u and care is high-lighted.

Keywords

Subjects

1         Williams DI, Nixon HH. Agenesis of the sacrum. Surg Gynecol Obstet. 1957;105(1):84-88.
2         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
3         Emami-Naeini P, Nejat F, Rahbar Z, Kajbafzadeh A, El Khashab M. Urological manifestations of sacral agenesis. J Pediatr Urol. 2012;8(2):181-186. https://doi.org/10.1016/j.jpurol.2011.02.004
4         Nalbandyan M, Howley MM, Cunniff CM, Romitti PA, Browne ML. Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011. Am J Med Genet A. 2019;179(9):1799-1814. https://doi.org/10.1002/ajmg.a.61290
5         Renshaw TS. Sacral agenesis. J Bone Joint Surg Am. 1978;60(3):373-383.
6         Yoshida A, Maoate K, Blakelock R, Robertson S, Beasley S. Long-term functional outcomes in children with Currarino syndrome. Pediatr Surg Int. 2010;26(7):677-81.
7         Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981;137(2):395-398.
8         Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, et al. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat. 2008;29(7):903-910. https://doi.org/10.1002/humu.20718
9         Emans PJ, Kootstra G, Marcelis CL, Beuls EA, van Heurn LW. The Currarino triad: the variable expression. J Pediatr Surg. 2005;40(8):1238-1242. https://doi.org/10.1016/j.jpedsurg.2005.05.004
10       Dworschak GC, Reutter HM, Ludwig M. Currarino syndrome: a comprehensive genetic review of a rare congenital disorder. Orphanet Journal of Rare Diseases. 2021;16(1):167. https://doi.org/10.1186/s13023-021-01799-0