European Radiology

, Volume 26, Issue 10, pp 3377–3382 | Cite as

Thickening of the cauda equina roots: a common finding in Krabbe disease

  • Misun Hwang
  • Giulio Zuccoli
  • Ashok Panigrahy
  • David Rodriguez
  • Michele D. Poe
  • Maria L. Escolar
Paediatric

Abstract

Objectives

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 (mm2) 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.

Key Points

• 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

Keywords

Globoid cell leukodystrophy Cauda equina Spine Peripheral nervous system diseases Krabbe disease 

Abbreviations

CIPD

Chronic inflammatory demyelinating polyneuropathy

GALC

Galactosylceramidase

GLD

Globoid cell leukodystrophy

MLD

Metachromatic leukodystrophy

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Copyright information

© European Society of Radiology 2016

Authors and Affiliations

  • Misun Hwang
    • 1
  • Giulio Zuccoli
    • 2
  • Ashok Panigrahy
    • 2
  • David Rodriguez
    • 1
  • Michele D. Poe
    • 3
  • Maria L. Escolar
    • 3
  1. 1.Department of Radiology of University of Pittsburgh Medical CenterPittsburghUSA
  2. 2.Section of Neuroradiology, Children’s Hospital of Pittsburgh of University of Pittsburgh Medical CenterPittsburghUSA
  3. 3.Department of Pediatrics at Children’s Hospital of Pittsburgh of University of Pittsburgh Medical CenterPittsburghUSA

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