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Child's Nervous System

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01-02-2005 | Case Report

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

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

Published in: Child's Nervous System | Issue 2/2005

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. The patient had no symptoms and presented with scoliosis.

Conclusions

Recent compelling evidence from animal models and human case reports has lead 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.

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

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

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

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

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

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

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 61:395–401PubMed

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

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

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 17:305–308PubMed

11.

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

12.

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

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

14.

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

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 Gen 82:70–76CrossRefPubMed

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 2:115–124PubMed

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 63:119–126CrossRefPubMed

18.

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

19.

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

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 12:177–184CrossRefPubMed

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 37:241–244PubMed

22.

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

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 101:388–392CrossRefPubMed

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 8:23–27PubMed

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 4:459–468PubMed

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 62:1551–1555PubMed

27.

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

28.

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

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 94:319–324PubMed

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 182:577–588PubMed

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 84:460–468PubMed

32.

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

33.

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

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 37:869–874CrossRefPubMed

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 20:445–456PubMed

36.

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

37.

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

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 38:182–185CrossRefPubMed

39.

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

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 149:786–788PubMed

41.

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

42.

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

Title: Split cord malformation and situs inversus totalis: case report and review of the literature
Authors: R. Shane Tubbs
John C. Wellons III
W. Jerry Oakes
Publication date: 01-02-2005
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 2/2005
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-003-0895-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Case report

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case report

Conclusions

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