Irregular Tremulous Movements and Infrequent Seizures: A Clinical-Electrophysiological Diagnosis of Benign Adult Familial Myoclonus Epilepsy

TL;DR

A man with unusual finger movements and rare seizures was diagnosed with a rare neurological condition using electrophysiological tests and family history.

Contribution

This case emphasizes the importance of BAFME in differential diagnosis for atypical tremors with family history and cortical hyperexcitability.

Findings

The patient's irregular finger movements and rare seizures were not consistent with essential tremor.

Electrophysiological tests revealed giant SEP and a positive C-reflex, leading to a diagnosis of BAFME.

Treatment with valproic acid and perampanel significantly reduced symptoms.

Abstract

We report a case involving a 31-year-old male without any known precipitating injuries presenting with involuntary finger movements and rare seizures. There was a noted family history of tremulous movements. Yet the characteristics of his finger movements were irregular and not typical of essential tremor (ET). Electrophysiological examinations, including video EEG, showed no epileptic discharges, and brain MRI results were normal. However, somatosensory evoked potentials (SEP) revealed the presence of giant SEP, and a positive cortical (C)-reflex was observed, leading to a clinical diagnosis of benign adult familial myoclonus epilepsy (BAFME). Management with valproic acid and perampanel resulted in a significant reduction of symptoms. This case highlights the necessity of considering BAFME in the differential diagnosis for atypical tremorous finger movements, especially with a relevant family history, and the critical role of electrophysiological findings indicative of cortical hyperexcitability.

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