Lesch-Nyhan disease variant: a new cause of paroxysmal dystonia
Dr. Beatriz De la Casa-Fages
9 slide(s) – English – 2011-09-10
Lesch-Nyhan disease (LND) variants are due to an incomplete deficiency of the enzime HPRT. They may present with overproduction of uric acid, motor abnormalities and slight cognitive dysfunction. Dystonia is the most common motor abnormality in the LND variants. Here we report a 23-year-old man with LND variant clinically stable for years, who presented with one year history of paroxismal dystonia in lower extremities induced by sudden voluntary movement. Treatment with levetiracetam reduced episodes significantly. To our knowledge, paroxysmal kinesogenic dyskinesia (PKD) secondary to LND variant has not been described before.