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Baclofen in the Treatment of Polymyoclonus and Ataxia in a Patient With Homocystinuria

Department of Neurology, New York University Medical Center, New York, NY

Claude Sansaricq, MD, PhD

Department of Pediatrics, New York University Medical Center, New York, NY

Joan Moroney, MD

Department of Neurology, New York University Medical Center, New York, NY

Irving Fish, MD

Department of Neurology, New York University Medical Center, New York, NY

Anastassios Kyriakakos, MD

Department of Pediatrics, New York University Medical Center, New York, NY

Selma E. Snyderman, MD

Department of Pediatrics, New York University Medical Center, New York, NY

A patient with homocystinuria due to cystathionine β-synthase deficiency developed severe progressive polymyoclonus and ataxia. To our knowledge, this is the first time polymyoclonus and ataxia have been reported in association with homocystinuria. Although cerebrovascular thrombosis is usually thought to be responsible for neurologic dysfunction in homocystinuric patients, no infarctions were demonstrated on magnetic resonance imaging scans in our case. We have previously reported that baclofen dramatically improved the polymyoclonus and ataxia in a patient 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. (J Child Neurol 1995; 10:294-296).

Journal of Child Neurology, Vol. 10, No. 4, 294-296 (1995)
DOI: 10.1177/088307389501000408


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