Rationale:
Beck-Fahrner Syndrome (BEFHARS) is an ultra-rare genetic disease. Its seizure semiology and neurophysiological characteristics are not well-described.
Methods:
We present a 6 year-old female with known BEFHARS who had new onset generalized tonic-clonic seizure well-controlled on levetiracetam monotherapy. Her EEG showed background slowing and disorganization with bilateral independent low amplitude sharp waves in the central and temporal regions. MRI brain revealed bilateral T2 and FLAIR hyperintensity involving the thalami and peri-trigonal white matter of the parietal lobes.
Results:
A review of eight cases included patients from 1.5 to 21 years of age. These cases highlight various seizure semiology, including five cases of generalized seizures and two cases of focal seizures. EEG findings showed focal discharges in four cases, bilateral discharges in one, electrical status epilepticus during slow-wave sleep in one, and unspecified EEG findings in two cases (Beck et al. 2020, Levy et al. 2021, Sager et al. 2023, and Seyama et al. 2022). One patient developed drug-resistant epilepsy and required sultiame and steroids to abort the seizures (Beck et al. 2020). Another patient received pulse steroid and IVIG prior to starting dual antiseizure medications of valproic acid and clobazam (Sager et al. 2023). Table 1 provides an overview of these results.
Conclusions:
Patients with BEFHARS exhibit a heterogenous spectrum of seizures types and EEG abnormalities, with generalized tonic-clonic seizures and focal discharges being the most commonly reported. While our patient responded well to monotherapy with levetiracetam, the literature had instances of drug-resistant epilepsy requiring immunomodulatory therapies. Clinicians need to remain vigilant and consider individualized management strategies when addressing epilepsy in patients in BEHARS.
Funding: none