Deep Brain Stimulation for the Management of Seizures in MECP2 Duplication Syndrome. (P7.280)

摘要: OBJECTIVE/ BACKGROUND: MECP2 duplication (MECP2-dup) leads to cognitive delay, minimal or absent speech and dysmorphic features. Here we describe clinical features of an adult with severe seizures multiple types, their management challenges, including response deep brain stimulation (DBS). DESIGN/METHODS: developmental delay was recognized at 9 months. At 14 years age he began experiencing complex partial, atonic, tonic, secondarily generalized tonic-clonic, eating reflex seizures. Several antiepileptic drugs failed control his the 23 monthly seizure frequency 125. The patient then received DBS anterior thalamic nuclei. RESULTS: Treatment caused 65% decrease in frequency. Despite a significant improvement, motor skills continue deteriorate. Frequent respiratory infections are most life-threatening events. CONCLUSIONS: MECP2-dup is condition rarely seen/diagnosed adults. Almost 40% all boys that were reported until 2009 died before completing 25 age. This case shows dysfunction deteriorate as patients It also may be extremely difficult treat improve control. As opposed some other genetically determined epilepsies such Dravet syndrome, severity do not adulthood. Disclosure: Dr. Nascimento has nothing disclose. Faghfoury Krings Ali Fridhandler Lozano personal compensation for activities Medtronic Inc., Boston Scientific Corp., Johnson & Johnson, St Jude Medical. editorial capacity Brain Stimulation. Wennberg Andrade