Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.
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.
Serrano
Mercedes
M
Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Pérez-Dueñas
Belen
B
Ormazábal
Aida
A
Artuch
Rafael
R
Campistol
Jaume
J
Torres
Rosa J
RJ
García-Cazorla
Angels
A
D002675:Child, Preschool; D015259:Dopamine Agents / Q000627:therapeutic use*; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000188:drug therapy / Q000378:metabolism / Q000473:pathology; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D016896:Treatment Outcome
D015259:Dopamine Agents; D007980:Levodopa