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Updated: Aug 4, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy
Abstract:
The late onset type of globoid cell leukodystrophy (GLD) is a rare disorder and only three magnetic resonance imaging (MR) studies have been reported for this disease. We report a sporadic case of late onset GLD. The illness started at the age of 3 years and 8 months with spastic gait. He became bedridden at the age of 4 years and 7 months. The diagnosis was made by deficient activity of galactosylceramidase in lymphocytes, and the biochemical and morphological examinations of the biopsied sural nerve were also conducted. Computed tomography (CT) and MR study revealed that the degenerative change of the white matter was initially recognized in the occipital and parietal lobes and then extended forward. Literature of the CT or MR findings of GLD is also reviewed.
Insights
Late onset globoid cell leukodystrophy (GLD) is rare. This case report details a patient diagnosed via enzyme deficiency and imaging, showing white matter degeneration progression.
Area of Science:
- Neurology
- Biochemistry
- Radiology
Background:
- Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a rare lysosomal storage disorder.
- The late-onset form of GLD is particularly uncommon, with limited reported neuroimaging studies.
- Understanding the neuroimaging characteristics of late-onset GLD is crucial for early diagnosis and management.
Observation:
- This report presents a sporadic case of late-onset globoid cell leukodystrophy.
- The patient exhibited symptoms starting at 3 years and 8 months, progressing to being bedridden by 4 years and 7 months.
- Diagnosis was confirmed by deficient galactosylceramidase activity in lymphocytes and sural nerve examination.
Findings:
- Computed tomography (CT) and magnetic resonance (MR) imaging revealed white matter degeneration.
- The initial signs of degeneration were observed in the occipital and parietal lobes.
- The degenerative process subsequently extended anteriorly within the white matter.
Implications:
- This case contributes to the limited literature on neuroimaging in late-onset GLD.
- The findings highlight the pattern of white matter involvement, aiding in differential diagnosis.
- Further research into imaging findings can improve early detection and therapeutic strategies for this rare leukodystrophy.
