Child's Nervous System

, Volume 23, Issue 3, pp 359–364 | Cite as

Segmental spinal dysgenesis: report of four cases and proposed management strategy

  • Ruth E. Bristol
  • Nicholas TheodoreEmail author
  • Harold L. Rekate
Case Report



Segmental spinal dysgenesis, a rare developmental malformation, usually manifests during pregnancy or at birth. The resulting gross spinal instability necessitates spinal stabilization, which is inherently challenging in neonates.


We report four cases of segmental dysgenesis: three in the thoracolumbar region and one at the cervicothoracic junction. The latter was maintained in a custom orthosis that restricted all craniospinal motion while allowing routine care. Two neonates underwent surgical stabilization. The fourth patient will remain in a brace until 12–14 months old when fusion is planned.


Fusion with rib autografts failed in the two neonates. One patient has been followed for 13 years and is paraplegic. The second patient was lost to follow up. The patient with the cervicothoracic dysgenesis maintained normal neurologic function until his death at 8 months of cardiac failure. The fourth patient is 12 months old and has been maintained in a thoracolumbar orthosis with stable neurologic function.


Several factors contribute to the challenge of creating a stable fusion in neonates. Incomplete ossification of the vertebral bodies and poor results with allograft materials restrict fusion options. Neurologic deficits often prevent ambulation and decrease the axial-loading forces that enhance fusion. To allow children to grow and develop, we advocate rigid spinal immobilization for 12–18 months before spinal fusion (preferably, rib or fibular autograft). Given the already narrow spinal canal, the use of instrumentation is controversial. We advocate the use of instrumentation in infants only when a sound construct cannot be obtained with the graft alone.


Caudal regression syndrome Congenital spinal anomaly Segmental spinal dysgenesis Spinal dysraphism 


  1. 1.
    Buyse G, Van Calenbergh F, Choux M, Demaerel P, Sciot R, Verpoorten C (2003) Segmental spinal cord hypoplasia and meningocele with preservation of medullary function: case report. Surg Neurol 59:505–507PubMedCrossRefGoogle Scholar
  2. 2.
    Cherny WB, Rekate HL (1993) Segmental spinal dysgenesis in the newborn (abstract). Child’s Nerv Syst 9:360Google Scholar
  3. 3.
    Cox HE, Bennett WF (1984) Computed tomography of absent cervical pedicle. J Comput Assist Tomogr 8:537–539PubMedCrossRefGoogle Scholar
  4. 4.
    Desai K, Nadkarni T, Bhayani R, Goel A (2003) Congenital thoracic cord segmental amyelia: a rare manifestation of segmental spinal dysgenesis. Pediatr Neurosurg 38:102–106PubMedCrossRefGoogle Scholar
  5. 5.
    Dias MS, Li V, Landi M, Schwend R, Grabb P (1998) The embryogenesis of congenital vertebral dislocation: early embryonic buckling? Pediatr Neurosurg 29:281–289PubMedCrossRefGoogle Scholar
  6. 6.
    Faciszewski T, Winter RB, Lonstein JE, Sane S, Erickson D (1995) Segmental spinal dysgenesis. A disorder different from spinal agenesis. J Bone Jt Surg Am 77:530–537Google Scholar
  7. 7.
    Flynn JM, Otsuka NY, Emans JB, Hall JE, Hresko MT (1997) Segmental spinal dysgenesis: early neurologic deterioration and treatment. J Pediatr Orthop 17:100–104PubMedCrossRefGoogle Scholar
  8. 8.
    Geneva IE, Krasteva MB, Kostianev SS (2002) Age-related changes of the somatosensory evoked potentials in healthy children. Folia Med (Plovdiv) 44:13–18Google Scholar
  9. 9.
    Hughes LO, McCarthy RE, Glasier CM (1998) Segmental spinal dysgenesis: a report of three cases. J Pediatr Orthop 18:227–232PubMedCrossRefGoogle Scholar
  10. 10.
    Kim YJ, Otsuka NY, Flynn JM, Hall JE, Emans JB, Hresko MT (2001) Surgical treatment of congenital kyphosis. Spine 26:2251–2257PubMedCrossRefGoogle Scholar
  11. 11.
    Maden M, Gale E, Zile M (1998) The role of vitamin A in the development of the central nervous system. J Nutr 128:471S–475SPubMedGoogle Scholar
  12. 12.
    Martinez-Frias ML (2004) Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field. Am J Med Genet A 128:127–131PubMedCrossRefGoogle Scholar
  13. 13.
    Philips MF, Dormans J, Drummond D, Schut L, Sutton LN (1997) Progressive congenital kyphosis: report of five cases and review of the literature. Pediatr Neurosurg 26:130–143PubMedCrossRefGoogle Scholar
  14. 14.
    Rastogi H, Behari S, Phadke RV, Gupta RK, Kumar S, Mittal P (1996) Spinal segmental maldevelopment with a dermal sinus. Neuroradiology 38:658–660PubMedCrossRefGoogle Scholar
  15. 15.
    Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L (1988) Segmental spinal dysgenesis. Neurosurgery 22:739–744PubMedCrossRefGoogle Scholar
  16. 16.
    Szelenyi A, Bueno de Camargo A, Deletis V (2003) Neurophysiological evaluation of the corticospinal tract by D-wave recordings in young children. Child’s Nerv Syst 19:30–34Google Scholar
  17. 17.
    Tortori-Donati P, Fondelli MP, Rossi A, Raybaud CA, Cama A, Capra V (1999) Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol 20:445–456PubMedGoogle Scholar
  18. 18.
    Van Allen MI, Kalousek DK, Chernoff GF, Juriloff D, Harris M, McGillivray BC, Yong SL, Langlois S, MacLeod PM, Chitayat D et al (1993) Evidence for multi-site closure of the neural tube in humans. Am J Med Genet 47:723–743PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Ruth E. Bristol
    • 1
  • Nicholas Theodore
    • 1
    • 2
    Email author
  • Harold L. Rekate
    • 1
  1. 1.Division of Neurological Surgery, Barrow Neurological InstituteSt. Joseph’s Hospital and Medical CenterPhoenixUSA
  2. 2.c/o Neuroscience PublicationsBarrow Neurological InstitutePhoenixUSA

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