Abstracts

Rationale: Gaucher disease is an autosomal recessive lysosomal storage disease due to insufficient glucocerebrosidase activity. Gaucher disease can be divided into 3 types according to the absence, presence and severity of the neurologic symptoms. Patients with type 2 or 3 may develop epileptic seizures and myclonic status epilepticus (SE) in the context of a Progressive Myoclonic Epilepsy (PME). Previously, Phenytoin successful controlled SE in one patient with Gaucher disease. Nevertheless, phenytoin may not be the drug of choice for patients with Gaucher disease who often have chronic liver disease and multiple systemic comorbidities requiring therapy with multiple drugs metaboblized by the liver. There are few reports about the acute management of myoclonic status in Gaucher disease. Methods: We document the clinical and electroencephalographic response to intravenous levetiracetam (LEV) infusion in a 14-year-old male patient with type 1 Gaucher disease, eczema, multiple food allergies, asthma, pulmonary hypertension, sleep apnea and depression. who presented with de novo myoclonic SE. He had concealed daily myoclonic jerks for almost a year until they become continuous for a few weeks. His mood had also worsened for 2 weeks. He was on several medications: fexofenadine, fluticasone propionate, levalbuterol and enzyme replacement therapy (cerezyme). On physical exam, he was uncooperative. Affect was withdrawn and flat. He cried easily. He was awake and oriented. The rest of the neurological exam was significant for global hyperreflexia and clonus at the knees. Results: Video-EEG showed a 7 to 8 Hz, poorly sustained, posterior background rhythm and frequent interictal and ictal irregular generalized polyspike and wave discharges with amplitude between (100 to 200 uV) and duration of 1 to 6 seconds. The average frequency of the discharges was 3 every 15 seconds. He received a single loading dose of intravenous LEV, 20 milligrams per kilogram and the myoclonus status dramatically resolved in 10 minutes. Electrographic improvements included: (a) a progressive decrement in duration (less than 1 second); (b) and fragmentation of the generalized epileptiform discharges into independent multifocal sharp waves maximum over the central (C3, C4) and posterior head regions (O1, O2, Pz, P8, P7); and (c) a decrease in the frequency of the generalized polyspikes and wave discharges to one every 10 minutes 1 hour after the infusion. In addition, his mood improved significantly. The patient tolerated the LEV infusion well without side effects. He was discharged home the next day on LEV 500 mg orally twice daily. Conclusions: This is the first case report of suscessful treatment of myoclonic SE due to Gaucher disease with LEV. Because LEV has an anti-myoclonic effect, it is useful in treating PME. The lack of liver metabolism and the lack of interactions of LEV with other drugs makes it very attractive for the treatment of children with Gaucher disease who often have multiple medical conditions and require polytherapy. In this case, LEV was a safe, effective and well-tolerated drug.