MRI appearances of metachromatic leukodystrophy

Pediatr Radiol. 1999 Sep;29(9):669-72. doi: 10.1007/s002470050672.

Abstract

Background: The leukodystrophies constitute a wide spectrum of cerebral disorders of varying etiology. The imaging appearances on CT and MRI are recognizable as abnormalities of white matter; however, it may be impossible to arrive at the correct diagnosis based on imaging studies alone.

Patients and methods: Three patients of varying age and clinical symptomatology diagnosed with metachromatic leukodystrophy (MLD) had remarkably similar MRI appearances. A "tigroid" or "leopard-skin" appearance was demonstrated within deep white matter in each case.

Results: All of the patients had biochemical confirmation of MLD.

Conclusion: Although the "tigroid" pattern previously was considered to be pathognomonic of Pelizaeus-Merzbacher disease, the diagnosis of MLD must now be considered when these MRI appearances are encountered.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Cerebroside-Sulfatase / deficiency
  • Child
  • Child, Preschool
  • Contrast Media
  • Demyelinating Diseases / diagnosis
  • Diagnosis, Differential
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis
  • Female
  • Gadolinium
  • Humans
  • Leukodystrophy, Metachromatic / blood
  • Leukodystrophy, Metachromatic / diagnosis*
  • Magnetic Resonance Imaging*
  • Male
  • Tomography, X-Ray Computed

Substances

  • Contrast Media
  • Gadolinium
  • Cerebroside-Sulfatase