Thickening of the cauda equina roots: a common finding in Krabbe disease
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.
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.
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).
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.
• 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
KeywordsGloboid cell leukodystrophy Cauda equina Spine Peripheral nervous system diseases Krabbe disease
Chronic inflammatory demyelinating polyneuropathy
Globoid cell leukodystrophy
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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