Abstracts

Rationale: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by dysfunction of autonomic respiratory control, more dramatic during NREM sleep, associated to a mutation in the gene PHOX2B, with variable outcome including death in more severe cases. Methods: We report the history of a 22 year-old female with refractory complex partial seizures since age 6, admitted to the Video-EEG (VEEG) Monitoring Unit of our Epilepsy Surgery Center for pre-surgical evaluation, in January, 2008. Results: VEEG showed interictal sharp waves over the right temporo-parietal region and seizures originated in both temporal lobes, confirmed by invasive study with bifronto-temporal strips. After a generalized tonic-clonic seizure, the patient had a prolonged apnea requiring intubation and continued having apneas with oxigen dessaturation, mainly during slow wave sleep, after extubation. A past history of neonatal central apnea leading to mechanical ventilation along the first weeks of life came up at this point. She was then submitted to a polissomnography, which showed 195 episodes of central apnea (27/hour), maximal dessaturation of 63%, with no obstructive sleep apnea. DNA investigation in blood samples of the patient and her sister with similar history of early onset respiratory distress showed a mutation in the gene PHOX2B. She was diagnosed as CCHS and treated with BiPAP during sleep. Treatment with Benzodiazepines was interrupted and Carbamazepine dose reduced. She has no longer had epileptic seizures and has shown significant improvement in attention, humor and scholar skills, as well as in polysomnographic parameters. Conclusions: The association between respiratory sleep disorders and worsening of epileptic seizures has been previously described. We report the association of CCHS, leading to initial diagnosis of refractory epilepsy, which became easily controlled after adequate treatment for the respiratory sleep disorder. Supported by FAEPA