Ann Clin Case Rep | Volume 5, Issue 1 | Case Report | Open Access

A Case Report: Dravet Syndrome in an Adult, It is never too late to Consider

Angela Wabulya*

Department of Neurology, University of North Carolina, USA

*Correspondance to: Angela Wabulya 

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Abstract

“Dravet Syndrome (DS) is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by hyperthermia, developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems”. DS is associated with a mutation in the SCN1A gene in 80% to 90% of cases. The EEG in DS is usually non-specific, while the brain MRI is generally normal at onset. Sodium channel blocking Anti-Seizure Medications (ASM) exacerbates seizures in DS and should be avoided. About 80% of children with DS survive to adulthood, 92% of whom continue to have seizures. While the diagnosis of DS is easily made in early childhood, it can be challenging in older children and adults and missed in ~33% patients, at times misdiagnosed with common mimickers such as Lennox Gastuat Syndrome (LGS). I present a 19-year-old female with intractable epilepsy and presumed LGS with seizure onset at three months of age, “multiple” and at times prolonged febrile seizures, worsening convulsions with sodium channel blocking ASM and cognitive limitations. A routine EEG showed diffuse slowing, while brain MRI was suggestive of right mesial temporal sclerosis. Genetic testing done revealed SCN1A pathogenic variant. Her ASMs were adjusted, leaving her with Zonisamide and Epidiolex and ~70% seizure reduction. It is never too late to consider DS as well as other SCNIA related epilepsies; if found, it allows for optimal seizure management, a decrease in seizure burden, improving the social-economic dynamics of patients, caregivers, and the health care system.

Citation:

Wabulya A. A Case Report: Dravet Syndrome in an Adult, It is never too late to Consider. Ann Clin Case Rep. 2020; 5: 1846..

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