Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease

Pediatr Neurol. 2012 Oct;47(4):299-302. doi: 10.1016/j.pediatrneurol.2012.06.015.

Abstract

Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial changes on cranial magnetic resonance imaging and magnetic resonance spectroscopy.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / analysis
  • Brain Chemistry
  • Choline / analysis
  • Combined Modality Therapy
  • Creatine / analysis
  • DNA Mutational Analysis
  • Enteral Nutrition
  • Epilepsy / drug therapy
  • Epilepsy / etiology
  • Galactosylceramidase / genetics
  • Humans
  • Hypertrophy
  • Infant
  • Inositol / analysis
  • Leukocytes / enzymology
  • Leukodystrophy, Globoid Cell / pathology*
  • Leukodystrophy, Globoid Cell / therapy
  • Magnetic Resonance Imaging / methods*
  • Magnetic Resonance Spectroscopy*
  • Male
  • Optic Chiasm / pathology
  • Optic Nerve / pathology
  • Oxygen Inhalation Therapy
  • Physical Therapy Modalities
  • Survivors*

Substances

  • Anticonvulsants
  • Aspartic Acid
  • Inositol
  • N-acetylaspartate
  • Galactosylceramidase
  • Creatine
  • Choline