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Caudal regression syndrome: MR appearance

H Hirano1, N Tomura, J Watarai

  • 1Department of Radiology, Akita University School of Medicine, Akita City, Japan. hirano@med.akita-u.ac.jp

Computerized Medical Imaging and Graphics : the Official Journal of the Computerized Medical Imaging Society
|September 24, 1998
PubMed
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This case study details caudal regression syndrome, a rare condition affecting the sacrum and anus. Findings highlight characteristic spinal cord and nerve root abnormalities visible on MRI.

Area of Science:

  • Medical Imaging
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Caudal regression syndrome (CRS) is a rare congenital disorder characterized by incomplete development of the lower spine and spinal cord.
  • It can manifest with a wide spectrum of anomalies, including vertebral defects, lower limb malformations, and anorectal malformations.
  • Early diagnosis and understanding of associated anomalies are crucial for appropriate management.

Observation:

  • A neonate presented with sacral hypoplasia and an imperforate anus with an ano-vestibular fistula, indicative of caudal regression syndrome.
  • Physical examination revealed external anatomical abnormalities requiring surgical consideration.
  • The clinical presentation prompted advanced imaging for detailed anatomical assessment.

Findings:

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  • Magnetic resonance imaging (MRI) revealed a hypoplastic sacrum and a distinct wedge-shaped conus medullaris terminus.
  • MRI further demonstrated the separation of anterior and posterior spinal roots at the level of the cauda equina.
  • These imaging findings are characteristic of caudal regression syndrome, correlating with the observed clinical features.

Implications:

  • This case underscores the importance of advanced imaging, particularly MRI, in diagnosing and characterizing the extent of spinal cord and vertebral anomalies in caudal regression syndrome.
  • Understanding the specific neuro-anatomical findings, such as the wedge-shaped cord terminus and root separation, aids in surgical planning for anorectal malformations.
  • Further research into the embryological basis of CRS can potentially lead to improved diagnostic tools and therapeutic strategies for affected infants.