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

  • Paediatric
  • Published:
European Radiology Aims and scope Submit manuscript

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

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Abbreviations

CIPD:

Chronic inflammatory demyelinating polyneuropathy

GALC:

Galactosylceramidase

GLD:

Globoid cell leukodystrophy

MLD:

Metachromatic leukodystrophy

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Acknowledgments

The scientific guarantor of this publication is Dr. Maria Escolar. The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article. This study has received funding by NIH/NINDS R01 NS061965-01, the DANA foundation, and The Legacy of Angels Foundation. Michele D Poe, PhD kindly provided statistical advice for this manuscript. Institutional Review Board approval was obtained. Written informed consent was obtained from all subjects (patients) in this study. This is a retrospective observational study performed at one institution.

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Authors and Affiliations

  1. Department of Radiology of University of Pittsburgh Medical Center, 3950 Presby South Tower, Pittsburgh, PA, 15213, USA

    Misun Hwang & David Rodriguez

  2. Section of Neuroradiology, Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Giulio Zuccoli & Ashok Panigrahy

  3. Department of Pediatrics at Children’s Hospital of Pittsburgh of University of Pittsburgh Medical Center, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Michele D. Poe & Maria L. Escolar

Authors
  1. Misun Hwang
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  2. Giulio Zuccoli
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  3. Ashok Panigrahy
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  4. David Rodriguez
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  5. Michele D. Poe
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  6. Maria L. Escolar
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Correspondence to Maria L. Escolar.

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Hwang, M., Zuccoli, G., Panigrahy, A. et al. Thickening of the cauda equina roots: a common finding in Krabbe disease. Eur Radiol 26, 3377–3382 (2016). https://doi.org/10.1007/s00330-016-4233-6

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  • DOI: https://doi.org/10.1007/s00330-016-4233-6

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