P.049 Acetazolamide use for myoclonus: case report of 2 patients with progressive myoclonic epilepsy and literature review

• DOI: 10.1017/cjn.2024.156
• Publication Date: 2024-05-24T01:46:43Z
• Authors: P Teixeira Marques; A Atif; V Lira; Q Zulfiqar Ali; D Andrade
• Keywords: Progressive myoclonus epilepsy; Acetazolamide; Levetiracetam; Clonazepam; Myoclonic Jerk; Zonisamide

Background: Cortical myoclonus originates at cerebral cortex, predominantly occurring on voluntary movements. Few case reports described usage of Acetazolamide (ACZ) for myoclonus. Methods: Chart review 2 patients was performed. Literature conducted and ACZ using Pubmed. Results: 22-year-old female diagnosed with Progressive Myoclonic Epilepsy (PME) secondary to a KCNC1 mutation. Her symptoms started 10 years old bilateral tonic clonic seizures (BTCS), later developing progressive ataxia myoclonus, involving face limbs, which worsened stimulus menses. Medications included Perampanel, Clonazepam Levetiracetam, however still limiting. At the age 19, 250 mg BID weeks around her Follow up revealed significant improvement resulting in better ambulation, balance speech, sustained 2.5 after. 67-year-old male presented BTCS 53 along cortical dementia ataxia, leading diagnosis PME mutation IRF2BPL. Improvement occurred biweekly, although cognition deteriorated. Conclusions: Previous literature outlines 4 cases action that responded ACZ. We believe should be considered treat especially involvement hormonal fluctuations.