Combination of the spinal hernia, sprengel’s deformity, and situs viscerum inversus

Abstract

Background. The combination of Sprengel’s deformity with various types of spinal hernias and internal organ development anomalies, such as situs viscerum inversus (inverse or mirror location of internal organs), is a rare case. The etiology of these malformations is unknown, but their combination may suggest a common pathogenesis and cause.

The work aimed to review the literature and describe a clinical case of a patient with multiple malformations of the spine and spinal cord along with unilateral Sprengel’s deformity and situs viscerum inversus.

Materials and methods. A 4-year-old patient was diagnosed with myelomeningoradiculocele of the lumbosacral spine, malformation of the spine by the segmentation impairment type of C7–Th1, Th1–Th2, and Th2–Th3 vertebrae, non-closure of the arches of the С5–Т2 and Т12–S5 vertebrae, S-shaped congenital scoliosis, condition after surgical removal of myelomeningocele of the lumbosacral spine, concrescence and hypoplasia of ribs 1, 2, and 3 on the right, severe right-sided Sprengel’s deformity, and situs viscerum inversus.

Conclusions. The case description of concomitant malformations contributes to clinical material accumulation and further research in determining the factors of etiopathogenesis. Understanding the processes of pathoembryogenesis in combined malformations of the musculoskeletal system allows early suspicion and identification of latent deformities.

Keywords

spinal hernia / Sprengel’s deformity / situs viscerum inversus

References

[1] Baindurashvili AG, Ivanov SV, Kenis VM. Clinical implications of the neurosegmental level of injury in the treatment of hip dislocation and subluxation in children with spina bifida. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2016;4(4):6–11. (In Russ). doi: 10.17816/ptors446-11.

[2] Баиндурашвили А.Г., Иванов С.В., Кенис В.М. Нейросегментарный уровень и его значение при лечении подвывиха и вывиха бедра у детей с последствиями спинномозговых грыж // Ортопедия, травматология и восстановительная хирургия детского возраста. 2016. Т. 4. №4. C. 6-11. doi: 10.17816/PTORS446-11.

[3] Elikbaev GM, Khachatryan VA, Karabekov AK. Congenital spinal pathology in children: a training manual. Shymkent; 2008. 80 p. (In Russ).

[4] Еликбаев Г.М., Хачатрян В.А., Карабеков А.К. Врожденные спинальные патологии у детей: учебно-методическое пособие. Шымкент, 2008. 80 с.

[5] Liptak GS, Samra EA. Optimizing health care for children with spina bifida. Dev Disabil Res Rev. 2010;16(1):66–75. doi: 10.1002/ddrr.91.

[6] Liptak G.S., Samra E.A. Optimizing health care for children with spina bifida // Dev Disabil Res Rev. 2010. Vol. 16. N 1. P. 66–75. doi: 10.1002/ddrr.91.

[7] van Aalst J, Vles JS, Cuppen I, et al. Sprengel’s deformity and spinal dysraphism: connecting the shoulder and the spine. Childs Nerv Syst. 2013;29(7):1051–1058. doi: 10.1007/s00381-013-2057-0.

[8] van Aalst J., Vles J.S., Cuppen I., et al. Sprengel’s deformity and spinal dysraphism: connecting the shoulder and the spine // Childs Nerv Syst. 2013. Vol. 29. N 7. P. 1051–1058. doi: 10.1007/s00381-013-2057-0.

[9] Ozek MM, Cinalli G, Maixner WJ. The Spina Bifida Management and Outcome. Milan: Springer; 2008.

[10] Ozek M.M., Cinalli G., Maixner W.J. The Spina Bifida Management and Outcome. Milan : Springer, 2008.

[11] Pozdeev AA. Operative treatment of severe forms of congenital elevation of scapula in children. Vestnik Khirurgii im. I.I.Grekova. 2006;165(1):56–61. (In Russ).

[12] Поздеев А.А. Оперативное лечение тяжелых форм врожденного высокого стояния лопатки у детей // Вестник хирургии. 2006. Т. 165. № 1. С. 56–61.

[13] Piegger J, Gruber H, Fritsch H. Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident? Ann Anat. 2000;182(6):577–581. doi: 10.1016/S0940-9602(00)80108-9.

[14] Piegger J., Gruber H., Fritsch H. Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident? // Ann Anat. 2000. Vol. 182. N 6. P. 577–581. doi: 10.1016/S0940-9602(00)80108-9.

[15] Copp AJ, Greene ND. Genetics and development of neural tube defects. J Pathol. 2010;220(2):217–230. doi: 10.1002/path.2643.

[16] Copp A.J., Greene N.D. Genetics and development of neural tube defects // J Pathol. 2010. Vol. 220. P. 217–230.

[17] Young M, Selleri L, Capellini TD. Genetics of scapula and pelvis development: an evolutionary perspective. Curr Top Dev Biol. 2019; 132:311–349. doi: 10.1016/bs.ctdb.2018.12.007.

[18] Young M., Selleri L., Capellini T.D. Genetics of scapula and pelvis development: an evolutionary perspective // Curr Top Dev Biol. 2019. Vol. 132. P. 311–349. doi: 10.1016/bs.ctdb.2018.12.007.

[19] Giacoia GP, Say B. Spondylocostal dysplasia and neural tube defects. J Med Genet. 1991;28(1):51–53. doi: 10.1136/jmg.28.1.51.

[20] Giacoia G.P., Say B. Spondylocostal dysplasia and neural tube defects // J Med Genet. 1991. Vol. 28. N 1. P. 51–53. doi: 10.1136/jmg.28.1.51.

[21] Vijayan S, Shah H. Spondylocostaldysostosis with Sprengel's shoulder – report of a new association with Jarcho–Levin syndrome. Kerala J Orthop. 2012;25:103–104.

[22] Vijayan S., Shah H. Spondylocostaldysostosis with Sprengel's shoulder — report of a new association with Jarcho–Levin syndrome // Kerala J Orthop. 2012. Vol. 25. P. 103–104.

[23] Banniza von Bazan U. The association between congenital elevation of the scapula and diastematomyelia: a preliminary report. J Bone Joint Surg Br. 1979;61(1):59–63. doi: 10.1302/0301-620X.61B1.422634.

[24] Banniza von Bazan U. The association between congenital elevation of the scapula and diastematomyelia: a preliminary report // J Bone Joint Surg Br. 1979. Vol. 61. N 1. P. 59–63. doi: 10.1302/0301-620X.61B1.422634.

[25] Jeannopoulos CL. Congenital elevation of the scapula. J Bone Joint Surg Am. 1952;34A(4):883–892.

[26] Jeannopoulos C.L. Congenital elevation of the scapula // J Bone Joint Surg Am. 1952. Vol. 34A. N 4. P. 883–892.

[27] Mittal N, Majumdar R, Chauhan S, Acharjya M. Sprengel’s deformity: association with musculoskeletal dysfunctions and tethered cord syndrome. BMJ Case Rep. 2013;2013:bcr2013009182. doi: 10.1136/bcr-2013-009182.

[28] Mittal N., Majumdar R., Chauhan S., Acharjya M. Sprengel’s deformity: association with musculoskeletal dysfunctions and tethered cord syndrome // BMJ Case Rep. 2013. Vol. 2013. P. bcr2013009182. doi: 10.1136/bcr-2013-009182.

[29] Eulenberg М. Hochgradige discolation der scapula. Archiv fur Klinische Chirurgie. 1863;4:304–311. (In German).

[30] Eulenberg М. Hochgradige discolation der scapula. Archiv fur Klinische Chirurgie. 1863. Vol. 4. P. 304–311. (In German).

[31] Sprengel O. Die angeborene Verschiebung des Schulterblattesnachoben // Archiv fur Klinische Chirurgie von Langenbeck. 1891. Vol. 42. P. 545–549. (In German).

[32] Tulp N. Observationum Medicarum. Libri Tres. Cum aeneis figuris. Amsterdam: Elzevirivs; 1641. (In German).

[33] Tulp N. Observationum Medicarum. Libri Tres. Cum aeneis figuris. Amsterdam: Elzevirivs, 1641. (In German).

[34] Severinus MA. De Recondita abscessum natura. Neapoli: Beltranum; 1632. (In Italian).

[35] Severinus M.A. De Recondita abscessum natura. Neapoli; Beltranum, 1632. (In Italian).

[36] Morgagni JB. De sedibus, et causis morborum per anatomen indagatis libri quinque. Venice: Typographia Remondiniana; 1761.

[37] Morgagni J.B. De sedibus, et causis morborum per anatomen indagatis libri quinque. Venice: Typographia Remondiniana, 1761.

[38] Virchow R. Ein fall von hypertrichosis circumscripta mediana, kombiniert mit spina bifida occulta. Ztschr f Ethnol. 1875;7:280–290. (In German).

[39] Virchow R. Ein fall von hypertrichosis circumscripta mediana, kombiniert mit spina bifida occulta // Ztschr f Ethnol. 1875. Vol. 7. P. 280–290. (In German).

[40] Chiari H. Über Veränderungen des Kleinhirns, des Pons und Medulla oblongata infolge von kongenitaler Hydrocephalie des Grosshirns. Denkschriften der Kais Akad Wiss math-naturw. 1896;63:71–116. (In German).

[41] Chiari H. Über Veränderungen des Kleinhirns, des Pons und Medulla oblongata infolge von kongenitaler Hydrocephalie des Grosshirns // Denkschriften der Kais Akad Wiss math-naturw. 1896. Vol. 63. P. 71–116. (In German).

[42] Kozma C. Skeletal dysplasia in ancient Egypt. Am J Med Genet A. 2008;146A(23):3104–3112. doi: 10.1002/ajmg.a.32501.

[43] Kozma C. Skeletal dysplasia in ancient Egypt // Am J Med Genet A. 2008. Vol. 146A. N 23. P. 3104–3112. doi: 10.1002/ajmg.a.32501.

[44] Horwitz AE. Congenital elevation of the scapula-Sprengel's deformity. Am J Orthop Surg. 1908;6:260–311.

[45] Horwitz A.E. Congenital elevation of the scapula-Sprengel's deformity // Am J Orthop Surg. 1908. Vol. 6. P. 260–311.

[46] Cavendish ME. Congenital elevation of the scapula. J Bone Joint Surg Br. 1972;54(3):395–408.

[47] Cavendish M.E. Congenital elevation of the scapula // J Bone Joint Surg Br. 1972. Vol. 54. N 3. P. 395–408.

[48] Farsetti P, Weinstein SL, Caterini R, et al. Sprengel's deformity: long-term follow-up study of 22cases. J Pediatr Orthop B. 2003;12(3):202–210. doi: 10.1097/01.bpb.0000049568.52224.1e.

[49] Farsetti P., Weinstein S.L., Caterini R., et al. Sprengel's deformity: long-term follow-up study of 22cases // J Pediatr Orthop B. 2003. Vol. 12. N 3. P. 202–210. doi: 10.1097/01.bpb.0000049568.52224.1e

RIGHTS & PERMISSIONS

Eco-Vector