Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family...

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Progressive myoclonus epilepsies (PMEs) are rare genetic neurological disorders.
• Unverricht-Lundborg disease (ULD) is a common PME characterized by myoclonus, epilepsy, and neurological decline.
• ULD arises from mutations in the cystatin B (CSTB) gene.

Purpose of the Study:

• To report a case of infantile-onset Unverricht-Lundborg disease.
• To highlight the clinical presentation and genetic basis of early-onset ULD.
• To emphasize the importance of early recognition and intervention in managing PMEs.

Main Methods:

• Case report of an 8-year-old male with infantile-onset ULD.
• Clinical evaluation including developmental assessment and seizure history.
• Genetic testing to identify pathogenic variants in the CSTB gene.

Main Results:

• The patient presented with infantile-onset myoclonic jerks, tonic seizures, cognitive impairment, and global developmental delay.
• Genetic analysis revealed a homozygous missense pathogenic variant in the CSTB gene.
• Antiepileptic medication improved seizure control, indicating the benefit of early intervention.

Conclusions:

• Progressive myoclonus epilepsies can manifest early in childhood with diverse neurological symptoms.
• Early diagnosis of ULD through genetic testing is crucial for timely management.
• Appropriate therapeutic strategies can mitigate seizure burden and enhance the quality of life for individuals with ULD.