title: Thickening of the cauda equina roots: a common finding in Krabbe disease.
abstract: OBJECTIVE
  Evaluation of Krabbe disease burden and eligibility for hematopoietic stem cell transplantation are often based on neuroimaging findings using the modified Loes scoring system, which encompasses central but not peripheral nervous system changes. We show that quantitative evaluation of thickened cauda equina nerve roots may improve the evaluation of Krabbe disease and therapeutic guidance.
  
  
  METHODS
  Lumbar spine MRI scans of patients obtained between March 2013 and September 2013 were retrospectively evaluated and compared to those of controls. Quantitative evaluation of cauda equina roots was performed on the axial plane obtained approximately 5 mm below the conus medullaris. The largest nerves in the right and left anterior quadrants of the spinal canal were acquired.
  
  
  RESULTS
  Fifteen symptomatic patients with Krabbe disease (5-44 months old) and eleven age-matched controls were evaluated. The average areas (mm(2)) of anterior right and left nerves were 1.40 and 1.23, respectively, for patients and 0.61 and 0.60 for controls (differences: 0.79 and 0.63; p < 0.001).
  
  
  CONCLUSIONS
  Cauda equina nerve root thickening is associated with Krabbe disease in both treated and untreated patients. Adding lumbar spine MRI to the current neurodiagnostic protocols, which fails to account for peripheral nerve abnormalities, will likely facilitate the diagnosis of Krabbe disease.
  
  
  CONCLUSIONS
  • Neuroimaging is valuable for evaluating cauda equina nerve abnormality in Krabbe disease • MRI can be used to quantitatively evaluate cauda equina nerve thickening • Lumbar MRI could be useful for diagnosis and treatment monitoring of Krabbe disease.
authors.affiliation: Department of Radiology of University of Pittsburgh Medical Center, 3950 Presby South Tower, Pittsburgh, PA, 15213, USA.
authors.forename: Misun
authors.initials: M
authors.lastname: Hwang
authors.affiliation: Section of Neuroradiology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.
authors.forename: Giulio
authors.initials: G
authors.lastname: Zuccoli
authors.affiliation: Section of Neuroradiology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.
authors.forename: Ashok
authors.initials: A
authors.lastname: Panigrahy
authors.affiliation: Department of Radiology of University of Pittsburgh Medical Center, 3950 Presby South Tower, Pittsburgh, PA, 15213, USA.
authors.forename: David
authors.initials: D
authors.lastname: Rodriguez
authors.affiliation: Department of Pediatrics at Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.
authors.forename: Michele D
authors.initials: MD
authors.lastname: Poe
authors.affiliation: Department of Pediatrics at Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA. maria.escolar@chp.edu.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Escolar
mesh_terms: D002420:Cauda Equina / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000000981:diagnostic imaging / Q000473:pathology*; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D012189:Retrospective Studies
keywords: Cauda equina; Globoid cell leukodystrophy; Krabbe disease; Peripheral nervous system diseases; Spine