Isolated cranial nerve enhancement in metachromatic leukodystrophy

Pediatr Neurol. 2009 May;40(5):380-2. doi: 10.1016/j.pediatrneurol.2008.11.015.

Abstract

Metachromatic leukodystrophy is a lysosomal storage disorder with an estimated incidence of 1:40,000. Magnetic resonance imaging at time of diagnosis often shows symmetric white matter involvement, sparing the arcuate fibers. A 25-month-old female child presented with a cranial neuropathy, a spastic gait, decreased leukocyte arylsulfatase-A activity, and elevated urinary sulfatides. Magnetic resonance imaging revealed multiple cranial nerve enhancement, without intraparenchymal white matter involvement.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child, Preschool
  • Cranial Nerve Diseases / complications*
  • Cranial Nerve Diseases / diagnosis
  • Cranial Nerve Diseases / pathology*
  • Cranial Nerves / pathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / complications*
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / pathology*
  • Magnetic Resonance Imaging