Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

Pediatr Radiol. 2015 Jul;45(8):1253-7. doi: 10.1007/s00247-014-3256-x. Epub 2015 Feb 10.

Abstract

Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology*
  • Chediak-Higashi Syndrome / drug therapy
  • Chediak-Higashi Syndrome / pathology*
  • Child
  • Contrast Media
  • Cyclosporine / therapeutic use
  • Dexamethasone / therapeutic use
  • Diffusion Magnetic Resonance Imaging
  • Echo-Planar Imaging
  • Follow-Up Studies
  • Gadolinium
  • Humans
  • Image Enhancement
  • Immunosuppressive Agents / therapeutic use
  • Magnetic Resonance Imaging*
  • Magnetic Resonance Spectroscopy
  • Male
  • Methotrexate / therapeutic use
  • Recurrence
  • Treatment Outcome

Substances

  • Contrast Media
  • Immunosuppressive Agents
  • Dexamethasone
  • Cyclosporine
  • Gadolinium
  • Methotrexate