Seizure remission and improvement of neurological function in sialidosis with perampanel therapy

A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus. He received treatment of sodium valproate, levetiracetam, clobazam, and phenobarbital, without efficacy. A ketogenic diet also proved ineffective. Adjunctive therapy with 4 mg/day of perampanel was started and was gradually titrated to 10 mg/day. The remission of myoclonic seizures was achieved within one month. The patient's neurological and cognitive functions improved to a certain degree during the following 20 months. Sialidosis was confirmed by the mutations of NEU1 gene.
Highlights • A case of sialidosis I with compound mutations of c.544A > G and c.619C > T in NEU1 gene presented with drug-resistant seizures. • Seizures associated with sialidosis eventually resolved on adjunctive perampanel therapy titrated to 10 mg/day. • Our patient with sialidosis was drug-resistant to anti-seizure medication before responding to perampanel. • Perampanel might be a potentially effective treatment for sialidosis in patients with Progressive Myoclonus Epilepsy.