Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II

Garrett Smith, Stephanie K. Bell, John T. Sladky, Peter B. Kang, Mehmet S. Albayram

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root atrophy is a consistent pathological finding in post-mortem examinations of patients who suffered from various subtypes of spinal muscular atrophy; however, corresponding radiographic findings have not been previously reported. We present a patient with hypotonia and weakness who was found to have ventral spinal root atrophy in the lumbosacral region on MRI and was subsequently diagnosed with spinal muscular atrophy. More systematic analyses of imaging studies in spinal muscular atrophy will help determine whether such findings have the potential to serve as reliable diagnostic markers for clinical evaluations or as outcome measure for clinical trials.

Original languageEnglish (US)
Pages (from-to)134-137
Number of pages4
JournalClinical Imaging
Volume53
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2018 Elsevier Inc.

Keywords

  • Anterior horn cell degeneration
  • Dubowitz disease
  • Magnetic resonance imaging
  • Spinal muscular atrophy
  • Type 2
  • Ventral root atrophy

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