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

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.

• Authors: Mercedes Serrano, Belen Pérez-Dueñas, Aida Ormazábal, Rafael Artuch, Jaume Campistol, Rosa J Torres, Angels García-Cazorla
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 23 Issue 9 Pg. 1297-300 (Jul 15 2008) ISSN: 1531-8257 [Electronic] United States
• PMID: 18528895 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2008 Movement Disorder Society.

Chemical References

• Dopamine Agents
• Levodopa

Topics

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