Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks

Mov Disord. 2008 Jul 15;23(9):1297-300. doi: 10.1002/mds.21786.

Abstract

Lesch-Nyhan disease (LND) is a hereditary disorder of purine metabolism causing severe neurobehavioral disturbances in which an abnormal central nervous system dopaminergic function has been implied. However, levodopa treatment has rarely been used, and reports describe heterogeneous responses. We report an LND patient with low dopamine metabolite values in cerebrospinal fluid for whom early levodopa/carbidopa therapy was begun with a notable clinical improvement. We propose that very early treatment of LND patients with levodopa may improve their neurological symptoms and may contribute to a better outcome.

Publication types

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

MeSH terms

  • Child, Preschool
  • Dopamine Agents / therapeutic use*
  • Humans
  • Lesch-Nyhan Syndrome* / drug therapy
  • Lesch-Nyhan Syndrome* / metabolism
  • Lesch-Nyhan Syndrome* / pathology
  • Levodopa / therapeutic use*
  • Male
  • Treatment Outcome

Substances

  • Dopamine Agents
  • Levodopa