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Occult spinal dysraphism and Pacinian hamartomas.

R Shane Tubbs1, David R Kelly, Elizabeth C Mroczek-Musulman

  • 1Department of Cell Biology, University of Alabama at Birmingham, USA. richard.tubbs@ccc.uab.edu

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|January 20, 2005
PubMed
Summary

This study details two rare cases of Pacinian hamartomas associated with occult spinal dysraphism. These findings highlight a potential link between these rare conditions in spinal cord development.

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Area of Science:

  • Neurology
  • Pathology
  • Developmental Biology

Background:

  • Occult spinal dysraphism encompasses a spectrum of congenital anomalies affecting spinal cord development.
  • Pacinian hamartomas are benign tumors typically found in peripheral nerves, rarely associated with spinal conditions.

Observation:

  • Two patients presented with occult spinal dysraphism and underwent histological analysis.
  • One patient had a Pacinian hamartoma associated with lipomyelomeningocele.
  • The second patient's hamartoma was found with a presacral myxopapillary ependymoma and fatty filum terminale.

Findings:

  • Histological examination confirmed the presence of Pacinian hamartomas in both cases.
  • This represents the third reported association of Pacinian hamartomas with occult spinal dysraphism in the literature.

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  • Mesodermal elements are frequently observed in patients with occult spinal dysraphism.

    • Implications:

    • The findings suggest a potential, albeit rare, association between Pacinian hamartomas and occult spinal dysraphism.
    • Further research may elucidate the underlying developmental mechanisms linking these conditions.
    • This case series contributes to the understanding of rare spinal cord malformations and associated tumors.