Skip to main content
SpringerLink
Log in

Split cord malformation and situs inversus totalis: case report and review of the literature

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected.

Case report

The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis.

Conclusions

Recent compelling evidence from animal models and human case reports has led to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.

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

Similar content being viewed by others

References

  1. Casey B (1998) Two rights make a wrong: human left-right malformations. Hum Mol Gen 7:1565–1571

    Article  CAS  PubMed  Google Scholar 

  2. Casey B, Hackett BP (2000) Left-right axis malformations in man and mouse. Curr Opin Genet Dev 10:257–261

    Google Scholar 

  3. Casey B, Gebbia M, Devoto M (1995) Females with midline malformations and complex reversal of left-right asymmetry in a family with x-linked heterotaxy. Am J Hum Genet Suppl 57:A85

    Google Scholar 

  4. Danos MC, Yost HJ (1996) Role of notochord in specification of cardiac left-right orientation in zebrafish and xenopus. Dev Biol 177:96–103

    Article  CAS  PubMed  Google Scholar 

  5. Dixit S, Khanna R (1993) Situs inversus, developmental dyslexia and psychosis. Can J Psychiatry 38:300–301

    Google Scholar 

  6. Emura T, Asashima M, Furue M, Hashizume K (2002) Experimental split cord malformations. Pediatr Neurosurg 36:229–235

    Article  PubMed  Google Scholar 

  7. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B (1997) A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 61:395–401

    CAS  PubMed  Google Scholar 

  8. Flannery DB, Kahler SG (1986) Neural tube defects in trisomy 18. Prenat Diagn 6:97–99

    CAS  PubMed  Google Scholar 

  9. Fujinaga M (1997) Development of sidedness of asymmetric body structures in vertebrates. Int J Dev Biol 41:153–186

    CAS  PubMed  Google Scholar 

  10. Gebbia M, Ferrero GB, Pila G, Bassi MT, Aylsworth AS, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B (1997) X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17:305–308

    PubMed  Google Scholar 

  11. Gok A, Bayram M, Coskun Y, Ozsarac C (1995) Unusual malformations in occult spinal dysraphism. Turk J Pediatr 37:391–397

    CAS  PubMed  Google Scholar 

  12. Juriloff DM, Harris MJ (2000) Mouse models for neural tube closure defects. Hum Mol Genet 9:993–1000

    Article  CAS  PubMed  Google Scholar 

  13. Kennedy DN, O’Craven KM, Ticho BS, Goldstein AM, Makris N, Henson JW (1999) Structural and functional brain asymmetries in human situs inversus totalis. Neurology 53:1260–1265

    Google Scholar 

  14. Klessinger S, Christ B (1996) Diastematomyelia and spina bifida can be caused by the intraspinal grafting of somites in early avian embryos. Neurosurgery 39:1215–1223

    CAS  PubMed  Google Scholar 

  15. Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B (1999) Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 82:70–76

    Article  PubMed  Google Scholar 

  16. Kramer KL, Yost HJ (2002) Ectodermal syndecan-2 mediates left-right axis formation in migrating mesoderm as a cell-nonautonomous Vg1 cofactor. Dev Cell 2:115–124

    CAS  PubMed  Google Scholar 

  17. Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K (2001) Mutation analysis of left-right axis determining genes in nod and icr, strains susceptible to maternal diabetes. Teratology 63:119–126

    Article  CAS  PubMed  Google Scholar 

  18. Martínez-Frías ML (1995) Primary midline developmental field. I. Clinical and epidemiological characteristics. Am J Med Genet 56:374–381

    PubMed  Google Scholar 

  19. Martínez-Frías ML, Frías JL, Opitz JM (1998) Errors of morphogenesis and developmental field theory. Am J Med Genet 76:291–296

    Article  CAS  PubMed  Google Scholar 

  20. McCarthy A, Brown NA (1998) Specification of left-right asymmetry in mammals: embryo culture studies of stage of determination and relationships with morphogenesis and growth. Reprod Toxicol 12:177–184

    Article  CAS  PubMed  Google Scholar 

  21. Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O’Rawe A, Mitchison HM, Gardiner RM, Chung E (2000) A locus for primary ciliary dyskinesia maps to chromosome 19q. J Med Genet 37:241–244

    CAS  PubMed  Google Scholar 

  22. Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982) Association of Meckel syndrome with m-anisosplenia in one patient. Clin Genet 22:143–147

    CAS  PubMed  Google Scholar 

  23. Morelli SH, Young L, Reid B, Ruttenberg H, Bamshad MJ (2001) Clinical analysis of families with heart, midline, and laterality defects. Am J Med Genet 101:388–392

    Article  CAS  PubMed  Google Scholar 

  24. Mubashir MA, Sabry MA, Farah S, Haseeb N, Quasrawi B, Al-Busairi W, Al-dabbous R, Al-Awadi SA, Farag TI (1999) New syndromic entity of situs inversus totalis. Clin Dysmorphol 8:23–27

    CAS  PubMed  Google Scholar 

  25. Okada Y, Nonaka S, Tanaka Y, Saijoh Y, Hamada H, Hirokawa N (1999) Abnormal nodal flow precedes situs inversus in iv and inv mice. Mol Cell 4:459–468

    CAS  PubMed  Google Scholar 

  26. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ (1998) Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551–1555

    CAS  PubMed  Google Scholar 

  27. Pang D (1992) Split cord malformation. II. Clinical syndrome. Neurosurgery 31:481–500

    CAS  PubMed  Google Scholar 

  28. Pang D, Dias MS, Ahab-Barmada M (1992) Split cord malformation. I. A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 31:451–480

    CAS  PubMed  Google Scholar 

  29. Piedra ME, Icardo JM, Albajar M, Rodriguez-Rey JC, Ros MA (1998) Pitx2 participates in the late phase of the pathway controlling left-right asymmetry. Cell 94:319–324

    PubMed  Google Scholar 

  30. Piegger J, Gruber H, Fritsch H (2000) Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident. Ann Anat 182:577–588

    CAS  PubMed  Google Scholar 

  31. Reddy KS, Flannery D, Farrer RJ (1999) Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am J Med Gen 84:460–468

    CAS  PubMed  Google Scholar 

  32. Splitt MP, Burn J, Goodship J (1996) Defects in the determination of left-right asymmetry. J Med Genet 33:498–503

    CAS  PubMed  Google Scholar 

  33. Stoler J, Holmes L (1992) A case of agnathia, situs inversus, and a normal central nervous system. Teratology 46:213–216

    CAS  PubMed  Google Scholar 

  34. Tanaka S, Kanzaki R, Yoshibayashi M, Kamiya T, Sugishita M (1999) Dichotic listening in patients with situs inversus: brain asymmetry and situs asymmetry. Neuropsychologia 37:869–874

    Article  CAS  PubMed  Google Scholar 

  35. Tortori-Donati P, Fondelli MP, Rossi A, Raybaud CA, Cama A, Capra V (1999) Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. Am J Neuroradiol 20:445–456

    CAS  PubMed  Google Scholar 

  36. Tubbs RS, Wellons JW, Salter G et al (2003) Intracranial anatomic asymmetry in situs inversus totalis. Anat Embryol 206:199–202

    PubMed  Google Scholar 

  37. Uragoda CG (1977) Dextrocardia and situs inversus in Sri Lanka. Trop Geogr Med 29:14–18

    CAS  PubMed  Google Scholar 

  38. Vitale E, Brancolini V, DeRienzo A, Bird L, Allada V, Sklansky M, Chae CU, Ferrero GB, Weber J, Devoto M, Casey B (2001) Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p. J Med Genet 38:182–185

    Article  CAS  PubMed  Google Scholar 

  39. Wehrmaker A (1969) Right-left asymmetry and situs inversus in Triturus alpestris. Rouxs Arch Entwicklungmech Organ 163:1–32

    Google Scholar 

  40. Wolf YG, Merlob P, Horev G, Litwin A, Katz S (1990) Thoraco-abdominal enteric duplication with meningocele, skeletal anomalies and dextrocardia. Eur J Pediatr 149:786–788

    CAS  PubMed  Google Scholar 

  41. Wong WR, Kuo TT, Wang CM, Chan HL (1999) Aplasia cutis congenital of the scalp associated with meningoencephalocele and situs inversus. Int J Dermatol 38:947–957

    PubMed  Google Scholar 

  42. Woods RP (1986) Brain asymmetries in situs inversus—a case report and review of the literature. Arch Neurol 43:1083–1084

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL, USA

    R. Shane Tubbs

  2. Pediatric Neurosurgery, Children’s Hospital, 1600 7th Avenue South Acc 400, Birmingham, AL 35233, USA

    R. Shane Tubbs, John C. Wellons III & W. Jerry Oakes

Authors
  1. R. Shane Tubbs
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. John C. Wellons III
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. Jerry Oakes
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R. Shane Tubbs.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tubbs, R.S., Wellons, J.C. & Oakes, W.J. Split cord malformation and situs inversus totalis: case report and review of the literature. Childs Nerv Syst 20, 131–134 (2004). https://doi.org/10.1007/s00381-003-0857-3

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-003-0857-3

Keywords

Search

Navigation