EEG Findings in a Pediatric Patient with 3q29 Microdeletion Syndrome (P13-1.005)

Abstract

<h3>Objective:</h3> 3q29 microdeletion syndrome is a rare genetic disorder which results from interstitial microdeletion of a segment on the long arm of chromosome 3. The syndrome is characterized by neurodevelopmental and psychiatric manifestations including intellectual disability, autism spectrum disorder, anxiety, executive function deficits, and psychosis/schizophrenia. Systemic manifestations include ocular issues, gastrointestinal disorders, dental anomalies, and congenital heart defects. <h3>Background:</h3> We present a 7-year-old boy with a history of intellectual disability including delayed speech and fine motor abilities, and autism spectrum disorder, who presented with frequent and new onset of complete behavioral arrest, staring, grunting and pulling movements lasting several minutes that were described by his teachers. Spells did not progress to tonic-clonic activity and were not associated with urine loss. His physical examination revealed down slanted eyes, epicanthal folds, wide mouth, long and thin philtrum, thin upper lip and axial and appendulicar tone were decreased. EEG while off ASM revealed excessive beta activity of the background, frontally dominant generalized spike/polyspike and wave discharges, and focal spike/polyspike and wave activity seen independently over the left and right frontocentral regions. MRI showed reduced cerebral white matter hemispheric volume involving the frontoparietal lobes with no obvious seizure focus. He was subsequently started on levetiracetam, which resulted in a cessation of staring spells. <h3>Design/Methods:</h3> NA <h3>Results:</h3> NA <h3>Conclusions:</h3> Seizures have been reported in 13% of patients with 3q29 microdeletion syndrome and are generally mild and responsive to ASM. Previously reported EEG abnormalities in patients with 3q29 microdeletion syndrome include focal epileptiform discharges in the left occipital region and slow waves in the frontotemporal regions. To our knowledge, generalized spike/polyspike wave activity has not previously been reported in this syndrome. Whether the independent focal frontocentral epileptiform discharges represent a forme fruste of the generalized discharges, or the latter represent a rapid secondary bisynchrony phenomenon, remains to be determined. <b>Disclosure:</b> Dr. Sheikh has nothing to disclose. Dr. Nascimento has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Zogenix. The institution of Dr. Nascimento has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biocodex. Dr. Nascimento has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. The institution of Dr. Nascimento has received research support from Zogenix. The institution of Dr. Nascimento has received research support from Biocodex. The institution of Dr. Nascimento has received research support from Greenwich. Dr. Nascimento has received publishing royalties from a publication relating to health care. Dr. Nascimento has a non-compensated relationship as a Editorial Team Member with Neurology RFS that is relevant to AAN interests or activities. Dr. Nascimento has a non-compensated relationship as a Production Team with Neurology Podcast that is relevant to AAN interests or activities. Dr. Waite has nothing to disclose. Dr. Lam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sage Therapeutics. Dr. Lam has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurona Therapeutics. Dr. Lam has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Cognito Therapeutics. The institution of Dr. Lam has received research support from Sage Therapeutics.