P31 – 2682: Improved seizure control by lacosamide in a patient with MECP2 duplication syndrome

Abstract

Objective MECP2 duplication syndrome, caused by the duplication of the Xq28 region, is a severe neurodevelopmental disorder involving multiple organ systems including drug-resistant epilepsy. Patients have polymorphic seizures, predominantly tonic-clonic and atonic seizures. EEG show slowing of the background activity, multifocal spike discharges and polyspike-waves with frontotemporal predominance. Frequent seizures are only poorly controlled by anti-epileptic therapy. Methods and results We present a Caucasian boy with hypotonia, severe developmental delay and drug-resistant epilepsy. Genetic testing (aCGH) confirmed the duplication of the MECP2 gene. He presented with feeding difficulties in the first days after birth, in the first months general hypotonia developed. Then regression of the social skills was observed, followed by regression of the motor skills. At the age of 3 years he developed epilepsy. EEG showed slow and chaotic background activity with multifocal slow spikewaves. They observed epileptic spasms, but several other types of seizures were subsequently documented. In the last 2 years 14 different anti-epileptic drugs were introduced in different combinations, with little or no electro-clinical improvement. He was hospitalized for several times because of status epilepticus. He had myoclonic seizures almost all the time during wakefulness in addition to 10–20 epileptic spasms and tonic seizures per day. Improvement in seizure control more than 50% reduction was noticed when lacosamide was introduced in combination with levetiracetam in clobazam. Myoclonic seizures were completely controlled. Conclusion In a boy with MECP2 duplication syndrome add-on therapy with lacosamide proved to be the most efficient anti-epileptic drug due to more than 50% reduction in number of tonic seizures and epileptic spasms and complete control of myoclonic seizures.