BACLOFEN IN THE TREATMENT OF POLYMYOCLONUS AND ATAXIA IN A PATIENT WITH HOMOCYSTINURIA

A patient with homocystinuria due to cystathionine beta-synthase defic iency developed severe progressive polymyoclonus and ataxia. To our kn owledge, this is the first time polymyoclonus and ataxia have been rep orted in association with homocystinuria. Although cerebrovascular thr ombosis is usually thought to be responsible for neurologic dysfunctio n in homocystinuric patients, no infarctions were demonstrate on magne tic resonance imaging scans in our case. We have previously reported t hat baclofen dramatically improved the polymyoclonus and ataxia in a p atient with Unverricht-Lundborg disease. Baclofen given to our patient reversed the polymyoclonus and the ataxia as well. This suggests that patients with polymyoclonus and ataxia, no matter what the etiology, may benefit from the use of baclofen.