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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
PubMed
Abstract

Insights

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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