Abstracts

Rationale: This is a case report of a 37-year-old male patient with Angleman syndrome (AS) and seizures since age 3.  Most of the seizures have been atonic drop attacks.  These were initially controlled with Depakote and Topamax.  Drop seizures were mostly absent from age 8 until age 33 when the drop attacks returned despite no change to medications.  Drops gained in frequency from age 33 from 1 every few months up to 10 a day by 2018 which is when he presented to our service.  Methods: There was a slight increase in hepatic enzymes and hyperammonemia with an admission for lethargy from his group home.  This, along with lack of seizure benefit, led to a plan to transition off Depakote and on to Rufinamide (RUF).  This was done over 3 days while being monitored in the hospital. There was no increase in seizure activity with this rapid transition.  Results: Since the transition 2 months ago at the time of this abstract submission, the patient has had no drop attacks.  Conclusions: Drop attacks are a common and devastating feature of AS.  This seizure type is also common in Lennox-Gastaut syndrome (LGS). While AS and LGS are not often co-diagnosed there are many shared features.  RUF is indicated for LGS and has reported reduction in drop attacks, so this was trialed in this case after consultation with the family. The medication has been well tolerated and is at a low dose (400 mg BID).  As AS is rare, there are few reports on response to medication.  We present this case to report a significant improvement from a medication to the most devastating seizure type in AS patients.  Funding: Carle Foundation Hospital