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MRI appearances of metachromatic leukodystrophy
E N Faerber1, J Melvin, E M Smergel
1Department of Radiology, St. Christopher's Hospital for Children, MCP. Hahnemann School of Medicine, Erie Avenue and Front Street, Philadelphia, PA 19134-1095, USA.
Pediatric Radiology
|August 25, 1999
Summary
Metachromatic leukodystrophy (MLD) can present with a distinctive "tigroid" white matter pattern on MRI. This imaging finding, previously linked to other diseases, should now prompt consideration of MLD.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Leukodystrophies are a diverse group of white matter brain disorders.
- Diagnosis can be challenging based solely on imaging findings like CT and MRI.
Observation:
- Three patients with metachromatic leukodystrophy (MLD) exhibited similar MRI findings.
- A characteristic "tigroid" or "leopard-skin" pattern was observed in the deep white matter of all patients.
Findings:
- Biochemical tests confirmed the diagnosis of MLD in all three patients.
- The observed "tigroid" pattern on MRI was consistent across patients.
Implications:
- The "tigroid" MRI pattern, once thought specific for Pelizaeus-Merzbacher disease, is now also indicative of MLD.
- This finding expands the differential diagnosis for leukodystrophies presenting with this specific white matter appearance.
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