Abstracts

Rationale: Unverricht-Lundborg disease (ULD) is an autosomal recessive progressive myoclonic epilepsy (PME). Prevalence is highest in specific European countries and north Africa. Affected individuals have myoclonic and tonic-clonic seizures, and a variable degree of ataxia and cognitive impairment.  Methods: A 41-year-old woman, born and raised in Haiti until age 15 years, presented to our facility for evaluation.  She developed myoclonic and tonic-clonic seizures at age 13, and had been wheelchair bound for decades due to nearly continuous seizures exacerbated by activity and emotional distress.  Eating and drinking were complicated by movement-induced increases in myoclonic seizures of the hands and fingers.  There was no cognitive impairment.  She had been treated with phenobarbital, carbamazepine and topiramate without significant improvement. The patient underwent video-EEG monitoring and an evaluation for metabolic and genetic causes of epilepsy.  Results: The patient had essentially continuous myoclonic seizures involving the limbs, head, oral region or axial muscles, clearly exacerbated by both anxiety and volitional movement.   The clinical myoclonus corresponded with burst of generalized polyspike and wave discharges, which were also abundant in the interictal EEG. The discharges were more frequent in wakefulness (40 - 50 per 5 minutes) than in sleep (15 - 20 per 5 minutes).  Serum testing for lysosomal storage diseases was negative.  Genetic testing for mutations associated with epilepsy revealed a 56 dodecamer repeat in the CSTB gene, consistent with a genetic diagnosis of ULD.The patient received intravenous loading doses of sodium valproate and  levetiracetam prior to discharge. The levetiracetam produced an immediate and profound decrease in seizure frequency.  The patient was incredulous as she observed and felt the regression of the seizures as the drug was infused.  Eventually lacosamide was added to her regimen with additional clinical benefit. For the first time since adolescence the patient could walk, bathe, eat and drink without assistance.  Conclusions: ULD should be considered in the differential diagnosis of any patient with a consistent clinical presentation, even if from a low prevalence area.  Patients suspected of having ULD or any of the other PMEs should undergo genetic testing for mutations associated with these syndromes in order to provide a definitive genetic diagnosis and information crucial for treatment, counseling, and prognosis.  Aggressive treatment with effective AEDs, particularly levetiracetam, can significantly improve quality of life by increasing independence.  Funding: No funding was received.