Deep brain stimulation for the management of seizures in MECP2 duplication syndrome

摘要

Chromosomal duplication at the Xq28 region including the MECP2 gene (MECP2 duplication syndrome) is one of the most common genomic rearrangements identified in neurodevelop-mentally delayed males. The main clinical features include infantile hypotonia, mild dysmorphic features, cognitive delay, absent speech, recurrent infections, progressive spasticity and autism. More than 50% of affected individuals develop epilepsy with a high reported rate of drug resistant seizures. Up to 40% of patients die before the age of 25 years with respiratory infections being a frequent cause of death.Here we describe the long-term evolution of a 35 year-old patient with MECP2 duplication syndrome who at the age of 20 years received deep brain stimulation (DBS) to the anterior nucleus (AN) of the thalamus for the management of pharma-coresistant seizures. Informed consent was obtained from the patient's caregiver to publish this report.