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

Area of Science:

• Genetics
• Neurology
• Rare Diseases

Background:

• Sialidosis is a rare lysosomal storage disorder caused by mutations in the NEU1 gene.
• It presents with progressive neurological deterioration, including myoclonic seizures, ataxia, and cognitive decline.
• Conventional anti-epileptic drugs and ketogenic diets are often ineffective.

Observation:

• A 15-year-old male with a 3-year history of myoclonic seizures, ataxia, tremors, and regression was diagnosed with sialidosis.
• Previous treatments with sodium valproate, levetiracetam, clobazam, phenobarbital, and a ketogenic diet showed no efficacy.
• The patient exhibited nearly continuous myoclonus.

Findings:

• Adjunctive therapy with perampanel, initiated at 4 mg/day and titrated to 10 mg/day, resulted in complete remission of myoclonic seizures within one month.
• Over 20 months, the patient demonstrated partial improvement in neurological and cognitive functions.

Implications:

• Perampanel demonstrates potential as an effective treatment for refractory myoclonic seizures in sialidosis.
• This case highlights the importance of genetic confirmation and exploring novel therapeutic options for rare lysosomal storage disorders.
• Further research is warranted to establish perampanel's efficacy and safety profile in a larger sialidosis cohort.