Skip to main content

Congenital Malformations of the Spine, Spinal Cord, and Cranio-Cervical Junction

  • Chapter

Part of the book series: Medical Radiology ((Med Radiol Diagn Imaging))

Abstract

Congenital malformations of the spine and spinal cord are generally referred to as spinal dysraphisms. These conditions are usually diagnosed prenatally, at birth, or in early infancy; however, some may be discovered in older children or adults. Magnetic resonance imaging (MRI) has made the diagnosis of these disorders easier, faster, and more accurate, thereby enhancing the possibility of an early and case-tailored treatment, mainly thanks to its multiplanar imaging and tissue characterization capabilities. Classification of spinal dysraphisms requires a balanced correlation of clinical, neuroradiological, and embryological information. Use of classification schemes may prove helpful in making a diagnosis in everyday clinical practice (Tortori-Donati et al. 2000; Tortori-Donati et al. 2001; Rossi et al. 2004a,b; Tortori-Donati et al. 2005b).

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   119.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Barkovich AJ, Raghavan N, Chuang SH (1989) MR of lumbosacral agenesis. Am J Neuroradiol 10:1223–1231

    PubMed  CAS  Google Scholar 

  • Barkovich AJ, Edwards MSB, Cogen PH (1991) MR evaluation of spinal dermal sinus tracts in children. Am J Neuroradiol 12:123–129

    PubMed  CAS  Google Scholar 

  • Breningstall GN, Marker SM, Tubman DE (1992) Hydrosyringomyelia and diastematomyelia detected by MRI in myelomeningocele. Pediatr Neurol 8:267–271

    Article  PubMed  CAS  Google Scholar 

  • Brown E, Matthes JC, Bazan C III, Jinkins JR (1994) Prevalence of incidental intraspinal lipoma of the lumbosacral spine as determined by MRI. Spine 19:833–836

    Article  PubMed  CAS  Google Scholar 

  • Byrd SE, Harvey C, Darling CF (1995) MR of terminal myelocystoceles. Eur J Radiol 20:215–220

    Article  PubMed  CAS  Google Scholar 

  • Cama A, Tortori-Donati P, Piatelli GL, Fondelli MP, Andreussi L (1995) Chiari complex in children: neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases). Eur J Pediatr Surg 5:35–38

    Article  PubMed  Google Scholar 

  • Carey JC, Greenbaum B, Hall BD (1978) The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser 14:253–263

    PubMed  CAS  Google Scholar 

  • Castillo M, Mukherji SK (1995) Imaging of the pediatric head, neck, and spine. Lippincott-Raven, Philadelphia

    Google Scholar 

  • Castillo M, Quencer RM, Dominguez R (1992) Chiari III malformation: imaging features. Am J Neuroradiol 13:107–113

    PubMed  CAS  Google Scholar 

  • Catala M (1997) Embryogenesis. Why do we need a new explanation for the emergence of spina bifida with lipoma? Childs Nerv Syst 13:336–340

    Article  PubMed  CAS  Google Scholar 

  • Catala M (2002) Genetic control of caudal development. Clin Genet 61:89–96

    Article  PubMed  CAS  Google Scholar 

  • Chiari H (1891) Über veränderungen des kleinhirns infolge von hydrocephalie des grosshirns. Dtsch Med Wochenschr 17:1172–1175

    Article  Google Scholar 

  • Chiari H (1896) Über veränderungen des kleinhirns, des pons und der medullaoblongata infolge von congenitales hydrocephalie des grosshirns. Dtsch Akad Wiss, Wien, pp 63–71

    Google Scholar 

  • Christophe C, Dan B (1999) Magnetic resonance imaging cranial and cerebral dimensions: Is there a relationship with Chiari I malformation? A preliminary report in children. Eur J Paediatr Neurol 3:15–24

    Article  PubMed  CAS  Google Scholar 

  • Coleman LT, Zimmerman RA, Rorke LB (1995) Ventriculus terminalis of the conus medullaris: MR findings in children. Am J Neuroradiol 16:1421–1426

    PubMed  CAS  Google Scholar 

  • Currarino G, Coln D, Votteler T (1981) Triad of anorectal, sacral, and presacral anomalies. Am J Roentgenol 137:395–398

    CAS  Google Scholar 

  • Dias MS, Azizkhan RG (1998) A novel embryogenetic mechanism for Currarino’s triad: inadequate dorsoventral separation of the caudal eminence from hindgut endoderm. Pediatr Neurosurg 28:223–229

    Article  PubMed  CAS  Google Scholar 

  • Dias MS, Partington M (2004) Embryology of myelomeningocele and anencephaly. Neurosurg Focus 16:E1

    Article  PubMed  Google Scholar 

  • Dias MS, Walker ML (1992) The embryogenesis of complex dysraphic malformations: a disorder of gastrulation? Pediatr Neurosurg 18:229–253

    Article  PubMed  CAS  Google Scholar 

  • Drolet B (1998) Birthmarks to worry about. Cutaneous markers of dysraphism. Dermatol Clin 16:447–453

    PubMed  CAS  Google Scholar 

  • Duhamel B (1961) From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152–155

    Article  PubMed  CAS  Google Scholar 

  • Elster AD, Chen MYM (1992) Chiari I malformations: clinical and radiological reappraisal. Radiology 183:347–353

    PubMed  CAS  Google Scholar 

  • Elton S, Oakes WJ (2001). Dermal sinus tracts of the spine. Neurosurg Focus 10, Article 4. Available at: http://www.neurosurgery.org/focus/jan01/10-1-4.pdf. Accessed 26 July 2005

    Google Scholar 

  • Faris JC, Crowe JE (1975) The split notochord syndrome. J Pediatr Surg 10:467–472

    Article  PubMed  CAS  Google Scholar 

  • French BN (1983) The embryology of spinal dysraphism. Clin Neurosurg 30:295–340

    PubMed  CAS  Google Scholar 

  • Gudinchet F, Maeder P, Laurent T, Meyrat B, Schnyder P (1997) Magnetic resonance detection of myelodysplasia in children with Currarino triad. Pediatr Radiol 27:903–907

    Article  PubMed  CAS  Google Scholar 

  • Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott CI Jr, Wassman ER, Mehringer CM, Rimoin DL, Pauli RM (1985) Computed tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet 20:355–360

    Article  PubMed  CAS  Google Scholar 

  • Herman JM, McLone DG, Storrs BB, Dauser RC (1993) Analysis of 153 patients with myelomeningocele or spinal lipoma reoperated upon for a tethered cord. Pediatr Neurosurg 19:243–249

    Article  PubMed  CAS  Google Scholar 

  • Hoffman CH, Dietrich RB, Pais MJ, Demos DS, Pribram HF (1993) The split notochord syndrome with dorsal enteric fistula. Am J Neuroradiol 14:622–627

    PubMed  CAS  Google Scholar 

  • Kernohan JW (1924) The ventriculus terminalis: its growth and development. J Comp Neurol 38:10–125

    Article  Google Scholar 

  • Knittle JL, Timmers K, Ginsberg-Fellner F, Brown RE, Katz DP (1979) The growth of adipose tissue in children and adolescents. Cross-sectional and longitudinal studies of adipose cell number and size. J Clin Invest 63:239–246

    Article  PubMed  CAS  Google Scholar 

  • McLone DG, Dias MS (1992) Complications of myelomeningocele closure. Pediatr Neurosurg 17:267–273

    Article  CAS  Google Scholar 

  • McLone DG, Knepper PA (1989) The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 15:1–12

    Article  PubMed  CAS  Google Scholar 

  • McLone DG, Naidich TP (1985) Terminal myelocystocele. Neurosurgery 16:36–43

    Article  PubMed  CAS  Google Scholar 

  • Meadows J, Kraut M, Guarnieri M, Haroun RI, Carson BS (2000) Asymptomatic Chiari type I malformations identified on magnetic resonance imaging. J Neurosurg 92:920–926

    Article  PubMed  CAS  Google Scholar 

  • Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC (1999) Chiari I malformation redefined: clinical and radiological findings for 364 symptomatic patients. Neurosurgery 44:1005–1017

    Article  PubMed  CAS  Google Scholar 

  • Naidich TP, Harwood-Nash DC (1983) Diastematomyelia. Part I. Hemicords and meningeal sheaths. Single and double arachnoid and dural tubes. Am J Neuroradiol 4:633–636

    PubMed  CAS  Google Scholar 

  • Naidich TP, McLone DG, Mutleur S (1983) A new understanding of dorsal dysraphism with lipoma (lipomyeloschisis): radiological evaluation and surgical correction. Am J Neuroradiol 4:103–116

    Google Scholar 

  • Naidich TP, Blaser SI, Delman BN, McLone DG, Dias MS, Zimmerman RA, Raybaud CA, Birschansky SB, Altman NR, Braffman BH (2002) Embryology of the spine and spinal cord. Proc 40th Annual Meeting of the American Society of Neuroradiology, Vancouver, BC, Canada, pp 3–13

    Google Scholar 

  • Narayan P, Mapstone TB, Tubbs RS, Grabb PA, Frye T (2001) Clinical significance of cervicomedullary deformity in Chiari II malformation. Pediatr Neurosurg 35:140–144

    Article  PubMed  CAS  Google Scholar 

  • Nguyen VD, Tyrrel R (1993) Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign. Skeletal Radiol 22:519–523

    PubMed  CAS  Google Scholar 

  • Nievelstein RAJ, Hartwig NG, Vermeji-Keers C, Valk J (1993) Embryonic development of the mammalian caudal neural tube. Teratology 48:21–31

    Article  PubMed  CAS  Google Scholar 

  • Nievelstein RAJ, Valk J, Smit LME, Vermeji-Keers C (1994) MR of the caudal regression syndrome: embryologic implications. Am J Neuroradiol 15:1021–1029

    PubMed  CAS  Google Scholar 

  • Nishikawa M, Sakamoto H, Hakuba A, Nakanishi N, Inoue Y (1997) Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 86:40–47

    Article  PubMed  CAS  Google Scholar 

  • Pang D (1992) Split cord malformation. Part II: clinical syndrome. Neurosurgery 31:481–500

    Article  PubMed  CAS  Google Scholar 

  • Pang D (1993) Sacral agenesis and caudal spinal cord malformations. Neurosurgery 32:755–779

    Article  PubMed  CAS  Google Scholar 

  • Pang D, Dias M (1993) Cervical myelomeningoceles. Neurosurgery 33:363–373

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Park JK, Gleason PL, Madsen JR, Goumnerova LC, Scott RM (1997) Presentation and management of Chiari I malformation in children. Pediatr Neurosurg 26:190–196

    Article  PubMed  CAS  Google Scholar 

  • Payner TD, Prenger E, Berger TS, Crone KR (1994) Acquired Chiari malformations: incidence, diagnosis, and management. Neurosurgery 34:429–434

    Article  PubMed  CAS  Google Scholar 

  • Peacock WJ, Murovic JA (1989) Magnetic resonance imaging in myelocystoceles. Report of two cases. J Neurosurg 70:804–807

    Article  PubMed  CAS  Google Scholar 

  • Pierre-Kahn A, Zerah M, Renier D, Cinalli G, Sainte-Rose C, Lellouch-Tubiana A, Brunelle F, Le Merrer M, Giudicelli Y, Pichon J, Kleinknecht B, Nataf F (1997) Congenital lumbosacral lipomas. Childs Nerv Syst 13:298–334

    Article  PubMed  CAS  Google Scholar 

  • Prop N, Frensdorf EL (1967) A postvertebral endodermal cyst associated with axial deformities: a case showing the “endodermal-ectodermal adhesion syndrome”. Pediatrics 39:555–562

    PubMed  CAS  Google Scholar 

  • Pujol J, Roig C, Capdevila A, Pou A, Marti-Vilalta JL, Kulisevsky J, Escartin A, Zannoli G (1995) Motion of the cerebellar tonsils in Chiari type I malformation studied by cine phase-contrast MRI. Neurology 45:1746–1753

    PubMed  CAS  Google Scholar 

  • Raghavan N, Barkovich AJ, Edwards M, Norman D (1989) MR imaging in the tethered spinal cord syndrome. Am J Neuroradiol 10:27–36

    Google Scholar 

  • Rossi A, Biancheri R, Cama A, Piatelli G, Ravegnani M, Tortori-Donati P (2004a) Imaging in spine and spinal cord malformations. Eur J Radiol 50:177–200

    Article  PubMed  Google Scholar 

  • Rossi A, Cama A, Piatelli G, Ravegnani M, Biancheri R, Tortori-Donati P (2004b) Spinal dysraphism: MR imaging rationale. J Neuroradiol 31:3–24

    Article  PubMed  CAS  Google Scholar 

  • Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P (2006) Spectrum of nonterminal myelocystoceles. Neurosurgery 58:509–515

    PubMed  Google Scholar 

  • Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371:252–254

    Article  PubMed  CAS  Google Scholar 

  • Sattar MT, Bannister CM, Turnbull IW (1996) Occult spinal dysraphism: the common combination of lesions and the clinical manifestations in 50 patients. Eur J Pediatr Surg 6(Suppl I):10–14

    Article  PubMed  Google Scholar 

  • Schlesinger AE, Naidich TP, Quencer RM (1986) Concurrent hydromyelia and diastematomyelia. Am J Neuroradiol 7:473–477

    PubMed  CAS  Google Scholar 

  • Scott RM, Wolpert SM, Bartoshesky LF, Zimbler S, Klauber GT (1986) Dermoid tumors occurring at the site of previous myelomeningocele repair. J Neurosurg 65:779–783

    Article  PubMed  CAS  Google Scholar 

  • Scotti G, Harwood-Nash DC (1980) Congenital thoracic dermal sinus: diagnosis by computer assisted metrizamide myelography. J Comput Assist Tomogr 4:675–677

    Article  PubMed  CAS  Google Scholar 

  • Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335–342

    Article  PubMed  CAS  Google Scholar 

  • Sigal R, Denys A, Halimi P, Shapeero L, Doyon D, Boudghène F (1991) Ventriculus terminalis of the conus medullaris: MR imaging in four patients with congenital dilatation. Am J Neuroradiol 12:733–737

    PubMed  CAS  Google Scholar 

  • Sival DA, van Weerden TW, Vles JS, Timmer A, den Dunnen WF, Staal-Schreinemachers AL, Hoving EW, Sollie KM, Kranen-Mastenbroek VJ, Sauer PJ, Brouwer OF (2004) Neonatal loss of function in human spina bifida aperta. Pediatrics 114:427–434

    Article  PubMed  Google Scholar 

  • Smith NM, Chambers HM, Furness ME, Haan EA (1992) The OEIS complex omphalocele-exstrophy-imperforate anus-spinal defects: recurrence in sibs. J Med Genet 29:730–732

    Article  PubMed  CAS  Google Scholar 

  • Tortori-Donati P, Cama A, Rosa ML, Andreussi L, Taccone A (1990) Occult spinal dysraphism: neuroradiological study. Neuroradiology 31:512–522

    Article  PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Tortori-Donati P, Rossi A, Cama A (2000) Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 2000; 42:471–491

    Article  PubMed  CAS  Google Scholar 

  • Tortori-Donati P, Rossi A, Biancheri R, Cama A (2001) Magnetic resonance imaging of spinal dysraphism. Top Magn Reson Imaging 12:375–409

    Article  PubMed  CAS  Google Scholar 

  • Tortori-Donati P, Rossi A, Biancheri R (2005a) Brain malformations. In: Tortori-Donati P (ed) Pediatric neuroradiology. Springer, Berlin Heidelberg New York, pp 71–198

    Chapter  Google Scholar 

  • Tortori-Donati P, Rossi A, Biancheri A, Cama A (2005b) Congenital malformations of the spine and spinal cord. In: Tortori-Donati P (ed) Pediatric neuroradiology. Springer, Berlin Heidelberg New York, pp 1539–1596

    Chapter  Google Scholar 

  • Uchino A, Mori T, Ohno M (1991) Thickened fatty filum terminale: MR imaging. Neuroradiology 33:331–333

    Article  PubMed  CAS  Google Scholar 

  • Ulmer JL, Elster AD, Ginsberg LE, Williams DW III (1993) Klippel-Feil syndrome: CT and MR of acquired and congenital abnormalities of cervical spine and cord. J Comput Assist Tomogr 17:215–224

    Article  PubMed  CAS  Google Scholar 

  • Walsh DS, Adzick NS (2003) Foetal surgery for spina bifida. Semin Neonatol 8:197–205

    Article  PubMed  Google Scholar 

  • Warder DE (2001) Tethered cord syndrome and occult spinal dysraphism. Neurosurg Focus (serial online] 10: Article 1. Available at http://www.neurosurgery.org/focus/jan01/10-1-1.pdf

    Google Scholar 

  • Warder DE, Oakes WJ (1993) Tethered cord syndrome and the conus in a normal position. Neurosurgery 33:374–378

    Article  PubMed  CAS  Google Scholar 

  • Warder DE, Oakes WJ (1994) Tethered cord syndrome: the low-lying and normally positioned conus. Neurosurgery 34:597–600

    Article  PubMed  CAS  Google Scholar 

  • Weprin BE, Oakes WJ (2000) Coccygeal pits. Pediatrics 105: E69

    Article  PubMed  CAS  Google Scholar 

  • White KS, Ball WS, Prenger EC, Patterson BJ, Kirks DR (1993) Evaluation of the craniocervical junction in Down syndrome: correlation of measurements obtained with radiography and MR imaging. Radiology 186:377–382

    PubMed  CAS  Google Scholar 

  • Wolpert SM, Scott RM, Platenberg C, Runge VM (1988) The clinical significance of hindbrain herniation and deformity as shown on MR images of patients with Chiari II malformation. Am J Neuroradiol 9:1075–1078

    PubMed  CAS  Google Scholar 

  • Wu YW, Chin CT, Chan KM, Barkovich AJ, Ferriero DM (1999) Pediatric Chiari I malformations. Do clinical and radiologic features correlate? Neurology 53:1271–1276

    PubMed  CAS  Google Scholar 

  • Yundt KD, Park TS, Kaufman BA (1997) Normal diameter of filum terminale in children: in vivo measurement. Pediatr Neurosurg 27:257–259

    Article  PubMed  CAS  Google Scholar 

  • Zimmerman RA (2005) Skull development and abnormalities. In: Tortori-Donati P (ed) Pediatric neuroradiology. Springer, Berlin Heidelberg New York, pp 1271–1287

    Chapter  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Rossi, A., Gandolfo, C., Cama, A., Tortori-Donati, P. (2007). Congenital Malformations of the Spine, Spinal Cord, and Cranio-Cervical Junction. In: Van Goethem, J.W.M., van den Hauwe, L., Parizel, P.M. (eds) Spinal Imaging. Medical Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-68483-1_1

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-68483-1_1

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-21344-4

  • Online ISBN: 978-3-540-68483-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics