Focal cortical myoclonus in rolandic cortical dysplasia presenting as hemifacial twitching

Area of Science:

• Neurology
• Neurophysiology
• Pediatric Neurology

Background:

• Focal cortical myoclonus is a rare neurological disorder characterized by brief, involuntary muscle jerks.
• Understanding the underlying pathophysiology is crucial for accurate diagnosis and treatment in pediatric patients.

Observation:

• A 2-year-old girl presented with recurrent episodes of left hemifacial twitching.
• Ictal electroencephalography revealed focal spike discharges in the right fronto-centro-temporal regions preceding twitch onset.
• Magnetic resonance imaging identified a linear abnormal signal in the right postcentral gyrus subcortical white matter.

Findings:

• Magnetoencephalography detected a cluster of dipole sources at the site of the MRI abnormality.
• The electrophysiological and imaging findings strongly suggested focal cortical myoclonus.
• The etiology was attributed to rolandic focal cortical dysplasia.

Implications:

• This case highlights the importance of correlating ictal EEG and MEG with MRI findings for diagnosing focal cortical myoclonus.
• Early and accurate diagnosis of focal cortical dysplasia is essential for appropriate management in children.
• Further research into the neurobiological mechanisms of focal cortical dysplasia and its association with myoclonus is warranted.