Abstract Details

Title Electroclinical Features in MECP2 Duplication Syndrome: Pediatric case series

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) Epilepsy/Clinical Neurophysiology (EEG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 070

Objective We describe the electroclinical features of children with MECP2DS presenting to our institution. In addition, we reviewed seizure types and therapies used. This will guide clinicians in early detection and management of epilepsy in these patients.

Background MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and epilepsy. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described.

Design/Methods We conducted an IRB approved retrospective chart review of patients with MECP2DS. Patients without any confirmatory genetic testing and with other concomitant genetic abnormalities were excluded.

Results Ten patients had confirmed diagnosis of MECP2DS (9 males, 1 female). Four (40%) had an abnormal initial EEG, 4 had normal initial EEGs that later became abnormal, 1 had normal serial EEGs, and 1 had no record of initial EEG. A total of 36 EEGs were reviewed, 29 (80%) were abnormal. Amongst these, 17 (47%) had generalized slowing with generalized and focal epileptiform discharges, 4 (11%) had focal epileptiform discharges, and 3 (8%) had generalized slowing with focal discharges. The most common seizure types were atonic (70%) and myoclonic (50%). Two patients presented with epileptic spasms. Majority of patients have intractable epilepsy (7, 64%). Most common anti-seizure drugs used were valproate, levetiracetam, lamotrigine, clobazam, and rufinamide. Four were on Epidiolex, one on ketogenic diet, and two had VNS.

Conclusions Nine out of 10 patients with MECP2DS developed epilepsy, with 40% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic and myoclonic seizures are the most common semiology. Majority are pharmacoresistant (64%). Further studies are needed to reach a more conclusive description on electroclinical pattern in patients with MECPDS.

Authors/Disclosures
Jocelyn B. Lorenzo, MD (Our Lady of the Lake Children's Hospital) PRESENTER	Dr. Lorenzo has nothing to disclose.
Andrea R. Lowden, MD (University of Texas Southwestern)	Dr. Lowden has nothing to disclose.

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Abstract Details