Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease

Pediatr Radiol. 2008 Jun;38(6):694-6. doi: 10.1007/s00247-008-0763-7. Epub 2008 Feb 12.

Abstract

We present serial MR findings in a child ultimately diagnosed with the early infantile form of Krabbe disease. MR showed typical features of Krabbe disease including cerebellar and brainstem hyperintensity, periventricular and deep white matter hyperintensity, and cerebral atrophy. In addition, the combination of both enlargement and enhancement of multiple cranial nerves in conjunction with unusual cystic lesions adjacent to the frontal horns of the lateral ventricles was previously unreported and expands the spectrum of imaging findings in early Krabbe disease.

Publication types

  • Case Reports

MeSH terms

  • Airway Obstruction
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cerebral Ventricles / pathology
  • Contrast Media / administration & dosage
  • Cranial Nerve Diseases / diagnosis
  • Cranial Nerve Diseases / etiology*
  • Cranial Nerves / pathology*
  • Developmental Disabilities / etiology
  • Diagnosis, Differential
  • Electroencephalography
  • Fatal Outcome
  • Female
  • Galactosylceramidase / blood
  • Humans
  • Image Enhancement / methods
  • Infant
  • Leukodystrophy, Globoid Cell / complications*
  • Leukodystrophy, Globoid Cell / diagnosis
  • Magnetic Resonance Imaging / methods
  • Magnetic Resonance Spectroscopy / methods
  • Radiography

Substances

  • Contrast Media
  • Galactosylceramidase