Abstracts

Rationale: Huntington's disease (HD) was originally described by George Huntington in 1872. HD is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive and neuropsychiatric symptoms and predominantly manifests in middle age (35-45 years). Juvenile Huntington's Disease (JHD) constitutes less than 10% of all Huntington's disease patients presenting before the age 20. The prevalence of seizures in childhood-onset Huntington disease ranges from 27% to 50%. There is currently a paucity of literature describing the electroencephalographic (EEG) findings in JHD. We are reporting two cases of distinct refractory epilepsy in half-siblings with a very severe form of JHD, with paternal inheritance and having very high CAG repeats. Both the siblings had distinct seizure semiology and electroencephalogram features. Methods: 2 Case-reports. Results: Case 1: A 8-year-old male with history of JHD and Seizures was admitted to epilepsy monitoring unit for characterization and quantification of seizures. Patient had normal birth and development until age 5. At age 6, he started having paroxysmal spells of blank stares and drop attacks. He was started on trial of Oxcarbazepine, Clonazepam and Clobazam but he continued to have about 4-12 seizures per day. His EEG showed disorganized background rhythm with posterior dominant rhythm of 6-6.5hz. His seizures were arising from right temporo-occipital region and which later spread to the left posterior head region. Case 2: A 13-year-old female with history of JHD and Seizures, who is the half-sister of patient described above was admitted to EMU for characterization and quantification of seizures. She had normal birth and development up to age 8. Her first seizure was at age 11. She had two types of seizures, the staring episodes and generalized tonic clonic seizures. Her seizures were refractory with the use of over five antiepileptic drugs. Eventually, she underwent palliative anterior 2/3^rd corpus callosotomy and later VNS placement with some reduction in seizure frequency. Patient's background EEG was disorganization with predominant theta rhythms admixed with delta activity. She had bifrontal multifocal spike & wave discharges, arising predominantly on left side. Conclusions: This is a case report of two half-siblings with JHD and seizures, who had different seizure semiology and electroencephalographic features. Seizures were refractory even with optimal medical and surgical therapy. Seizures in JHD are a very common association and can be refractory to treatment. There is a necessity to characterize the seizure types and electroencephalographic features in patients with JHD for better patient care.