Purpose: We report the case of a patient with progressive myoclonus epilepsy due to Gaucher disease type 3 whose seizures and ability to perform activities of daily living were significantly improved after starting low-dose perampanel therapy.
Case: Our patient's generalized tonic-clonic seizures and myoclonus did not improve despite the administration of multiple antiseizure medications and enzyme replacement therapy. The myoclonus reduced following pharmacological chaperone therapy, but this effect was temporary, and the generalized tonic-clonic seizures continued to occur. However, the generalized tonic-clonic seizures disappeared following treatment with 2 mg/day of perampanel. In addition, the decrease in myoclonus dramatically improved motor function such as talking, eating, and walking and stabilized the patient's mental status. These effects have been sustained for more than 4 years.
Conclusion: Perampanel is expected to be effective in the treatment of progressive myoclonus epilepsy associated with Gaucher disease type 3 and should be considered the drug of choice for this condition.
Keywords: Antiseizure medication; Giant somatosensory evoked potential; Seizure; α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor.
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