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Updated: Jul 11, 2026
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease
Background:
Adult-onset Krabbe disease is an uncommon form of leukodystrophy. Its magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) manifestations are not well documented.
Aim Of The Study:
To describe early MR findings in adult-onset Krabbe disease.
Materials And Methods:
A 28-year-old woman who had spastic paraparesis and a 5-year history of gait problems underwent MRI of the brain and cervical spine. Proton MRS was performed at 1.5 T using a short echo time. Metabolites were analyzed in the areas of MR signal abnormalities and normal-appearing brain. Six healthy volunteers were examined as controls.
Results:
MRI revealed changes in the upper corticospinal tracts, splenium and, minimally, adjacent to the atria of the lateral ventricles. MRS showed decreased creatine, choline, N-acetylaspartate and glutamate and probably elevated lactate in the upper corticospinal tract but not in the normal-appearing frontal lobe. The spinal cord was thin. Laboratory tests verified Krabbe disease.
Conclusions:
These results indicate early involvement of the upper corticospinal tract in adult-onset Krabbe disease. The cases reported earlier had imaging changes indicating a more advanced disease or no MR findings. Thinning of the spinal cord is a new finding in Krabbe disease.
Insights
Early magnetic resonance imaging (MRI) and spectroscopy (MRS) in adult-onset Krabbe disease reveal upper corticospinal tract involvement. Thinning of the spinal cord is a novel finding in this rare leukodystrophy.
Area of Science:
- Neurology
- Radiology
- Biochemistry
Background:
- Adult-onset Krabbe disease, a rare leukodystrophy, has poorly documented MRI and MRS findings.
- Early diagnosis is crucial for managing this progressive neurological disorder.
Observation:
- A 28-year-old woman with spastic paraparesis and gait issues underwent brain and cervical spine MRI and proton MRS.
- MRI showed abnormalities in the upper corticospinal tracts and splenium.
- MRS revealed altered metabolites in affected areas, including decreased N-acetylaspartate and probable elevated lactate.
Findings:
- Early involvement of the upper corticospinal tracts is indicated by MR imaging.
- Metabolic changes in the corticospinal tract include decreased creatine, choline, N-acetylaspartate, and glutamate.
- A thin spinal cord was observed, a finding not previously reported in Krabbe disease.
Implications:
- These findings suggest that upper corticospinal tract changes are an early indicator of adult-onset Krabbe disease.
- Spinal cord thinning represents a new potential diagnostic marker.
- Further research into early MR manifestations can improve diagnostic accuracy and patient outcomes.
