Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF

Neurology. 2004 May 25;62(10):1872-4. doi: 10.1212/01.wnl.0000126440.16612.51.


Two girls and one boy are described, with severe infantile parkinsonism-dystonia. This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure. Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dopamine / cerebrospinal fluid*
  • Dopamine / urine
  • Dystonic Disorders / cerebrospinal fluid*
  • Dystonic Disorders / diagnostic imaging
  • Female
  • Homovanillic Acid / cerebrospinal fluid*
  • Homovanillic Acid / urine
  • Humans
  • Hydroxyindoleacetic Acid / cerebrospinal fluid
  • Infant, Newborn
  • Male
  • Ocular Motility Disorders / cerebrospinal fluid*
  • Ocular Motility Disorders / diagnostic imaging
  • Parkinson Disease / cerebrospinal fluid*
  • Parkinson Disease / diagnostic imaging
  • Reflex, Abnormal
  • Saccades
  • Syndrome
  • Tomography, Emission-Computed, Single-Photon


  • Hydroxyindoleacetic Acid
  • Dopamine
  • Homovanillic Acid