Chediak-Higashi syndrome with parkinsonism

Mov Disord. 2004 Apr;19(4):472-5. doi: 10.1002/mds.10677.

Abstract

Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We describe the case of a 24-year-old woman with parkinsonism that responded well to antiparkinsonian drugs.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia Diseases / complications
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / physiopathology
  • Brain / pathology
  • Brain / physiopathology
  • Chediak-Higashi Syndrome / complications*
  • Chediak-Higashi Syndrome / diagnosis
  • Chediak-Higashi Syndrome / physiopathology
  • Electroencephalography
  • Electromyography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Neutrophils / pathology
  • Parkinsonian Disorders / complications*
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / physiopathology
  • Videotape Recording