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The club-shaped cord terminus in siblings with caudal agenesis: MRI

O Unal1, M E Sakarya, H Arslan

  • 1Department of Radiology, Yüzüncü Yil University Faculty of Medicine, Maraş Cad. Van, 65200, Turkey.

Neuroradiology
|November 7, 1999
PubMed

Insights

This study details a rare case of caudal agenesis in siblings, a condition affecting spinal cord development. Both patients exhibited a club-shaped spinal cord ending at the T11 vertebra.

Area of Science:

  • Medical imaging
  • Genetics
  • Developmental biology

Background:

  • Caudal agenesis is a rare congenital disorder characterized by incomplete development of the lower spine and spinal cord.
  • Genetic factors are implicated in some cases of caudal agenesis, but familial occurrences are exceptionally uncommon.

Observation:

  • This report describes a rare instance of caudal agenesis observed in siblings.
  • Magnetic resonance imaging (MRI) was utilized to evaluate the spinal cord morphology in both affected individuals.

Findings:

  • Both siblings presented with a distinct club-shaped spinal cord.
  • The spinal cord in both patients terminated prematurely at the T11 vertebral level.
  • Associated radiological and urological findings were documented and are presented.

Implications:

  • This familial case contributes to understanding the genetic and developmental underpinnings of caudal agenesis.
  • Further research into familial patterns may elucidate specific genetic mutations or environmental factors.
  • Detailed radiological and urological data can aid in clinical management and prognosis for affected families.

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