Investigating Limb Swelling in Patients With Dravet Syndrome: Mandy Alhajj, DO, James Dolbow, DO & Neel Fotedar, MD


A trio of experts from university hospitals discussed a study that aimed to uncover the prevalence and associations of limb swelling in patients with Dravet syndrome in hopes of improving care. [WATCH TIME: 5 minutes]

WATCH TIME: 5 minutes

"Dravet Syndrome is a very severe form of epilepsy and a lot of these children initially were not able to survive into adulthood because of high mortality related to the seizures. As they grow older, we're recognizing an adult phenotype of the problems encounter, and one of the big problems that they have is gait.”

As seizures begin in Dravet syndrome (DS), a developmental epileptic encephalopathy, pediatric patients develop neurocognitive delay, and by adolescence may develop a crouched gait and occasional limb swelling. A new parent-directed survey aimed to perform a thorough description and investigation into the incidence and mechanism of gait swelling in this patient group. Presented at the 2024 American Academy of Neurology (AAN) Annual Meeting, held April 13-18, in Denver, Colorado, findings from the survey showed that limb edema may occur in those with DS, and is most presented in the lower extremity, bilaterally, after the age of 12 years, and concurrent with gait disturbance.1

The survey, which evaluated patient's demographics, gait, medications, and the presence of limb edema, was posted to the national Dravet Syndrome Foundation support group's Facebook page, with invite emails sent from their list between August 18, 2023, and September 21, 2023. Of the 265 surveys completed, 44 (17%) reported past or current limb swelling. Limb swelling was reported in 35% of those more than 16 years old, 13% of those between 7 and 16 years old, and 3% of those less than 7 years old. Although 69% reported abnormal gait, 95% of those with swelling reported abnormal gait, and 25% reported painful swelling. Notably, an association was found between taking valproic acid or clobazam and onset of swelling.

Coauthors Mandy Alhajj, DO, a dermatology resident, James Dolbow, DO, a senior neurology resident, and Neel Fotedar, MD, an epileptologist, sat down with NeurologyLive® at the meeting to discuss certain medications and how they may a play role in the prevalence of limb swelling in patients with DS. The trio from University Hospitals talked about how better control of epilepsy can potentially relate to improved gait and lower limb swelling. In addition, the experts spoke about the possibility of other sodium channel mutations contributing to peripheral nerve problems in DS

Click here for more coverage of AAN 2024.

1. Alhajj M, Dolbow J, Fotedar N, Shah S. The Incidence, Characterization, and Proposed Mechanism of Limb Swelling in Patients with Dravet Syndrome: A New Syndromic Association. Presented at: 2024 AAN Annual Meeting; April 13-18; Denver, CO.
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