Low-dose fenfluramine as an effective treatment option for 'atypical' Dravet syndrome

Epilepsy Behav Rep. 2024 Sep 30:28:100714. doi: 10.1016/j.ebr.2024.100714. eCollection 2024.

Abstract

Dravet syndrome (DS) is characterized by recurrent convulsive seizures, including status epilepticus, and intellectual disability as a comorbidity. Seizures associated with DS are commonly resistant to antiseizure medications. Typical features of DS are recurrent episodes of status epilepticus, the presence of genetic mutations, and no abnormal magnetic resonance imaging (MRI) findings. Here, we report a rare case of DS in a 14-year-old girl who was negative for genetic mutations, had experienced status epilepticus only once, and had abnormal findings on brain MRI. Although our patient's case features are atypical of DS, they do not contradict the diagnostic criteria. Despite the difficulty in diagnosing DS because of the negative genetic testing results, we started our patient on fenfluramine (FFA). Long-term treatment with low-dose FFA effectively controlled our patient's seizures and resulted in cognitive and functional improvements.

Keywords: Atypical; Dravet syndrome; Fenfluramine; Low-dose; Periventricular nodular heterotopia.

Publication types

  • Case Reports