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Related Experiment Videos

Lumbar agenesis with sacral sparing: a case report.

B S Goldberg1, B A Shah, M G Wysoki

  • 1Department Radiologic Sciences, MCP Hahnemann University, Philadelphia, PA 19129, USA.

Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|August 7, 1999
PubMed
Summary

Caudal regression syndrome involves lower spine malformations causing neurological defects. This case uniquely shows complete lumbar spine absence with an intact spinal cord and sacrum.

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Area of Science:

  • Developmental biology
  • Clinical neurology
  • Pediatric orthopedics

Background:

  • Caudal regression syndrome (CRS) is a spectrum of congenital malformations affecting the lower spine.
  • CRS can lead to progressive or permanent neurological deficits.
  • Associated anomalies often involve the axillary skeleton, hindgut, and genitourinary systems.

Observation:

  • A patient presented with clinical and radiographic findings indicative of caudal agenesis.
  • The case demonstrated a unique presentation of CRS.
  • Specifically, there was a total absence of the lumbar vertebral column.

Findings:

  • Despite the complete absence of lumbar vertebrae, the spinal cord remained intact.
  • The sacrum was present and bony.

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  • This contrasts with typical presentations where spinal cord anomalies are common in CRS.

    • Implications:

    • This case expands the understanding of the spectrum of caudal agenesis.
    • It highlights the potential for spinal cord preservation even with severe vertebral malformations.
    • Further research into the developmental mechanisms underlying such presentations is warranted.