Abstracts

Rationale: Malan Syndrome is a rare neurological overgrowth disorder different from the well-characterized Sotos Syndrome in that it is caused by heterozygous deletions or point mutations in the NFIX gene. It manifests with developmental delay/intellectual disability, macrocephaly, tall stature and dysmorphic features. Given the limited information available regarding seizures in this disorder, we developed a database to characterize epilepsy in Malan Syndrome aimed at improving the care of affected children.

Methods: Here, we describe characteristics from a recently developed database including pediatric patients with Malan syndrome and positive genetic sequencing results. Each patient received an IRB-approved REDCap questionnaire and provided information including demographic data, past medical history, neurodevelopmental history, seizure type/frequency, comorbid conditions, treatment and outcomes. We report data including seizure frequency and management in subjects with Malan Syndrome.

Results: A total of 72 patients were identified for the survey and 53 (66% male) responded with completed questionnaires. Family history of Malan Syndrome was not reported. Four percent reported family history of epilepsy. Forty-three (81%) patients described seizures and 18 have currently occurring seizures. Fifteen reported seizures occurring a few times in a year and 12 reported status epilepticus. Of the 31 patients who reported whether seizures were controlled by antiseizure medications, 14 (45%) found them to be effective, 11 (36%) did not find them effective and 6 (19%) found it somewhat effective. Valproic acid was the most effective drug followed by lamotrigine, levetiracetam and oxcarbazepine. Of the 22 patients who reported medication usage duration, 17 (77%) were on medications for more than 1 year, 19 were taking them twice daily. Twenty-four (51%) of the 47 patients who responded to questions regarding OTC medications, took them daily and 12 found them to be effective. Four patients followed a ketogenic diet and all reported it to be effective.

Conclusions: This is the largest cohort study describing epilepsy in Malan Syndrome thus far. Seizures are common in Malan Syndrome and were reported in most patients. Information regarding seizure frequency, duration and treatment will improve our understanding and assist practitioners in the betterment of epilepsy care provided to children with Malan syndrome.

Funding: Please list any funding that was received in support of this abstract.: Not Applicable.