Dravet syndrome: clinical case

Abstract

Introduction: Dravet syndrome is a rare and severe genetic condition, which manifests with epileptic seizures from infancy. Patients may experience developmental, cognitive, motor, behavioral, sleep disorders and other problems. This syndrome usually develops due to genetic alterations in the SCN1A gene. There is currently no curative treatment, so management focuses on controlling seizures and promoting the patient's well-being. Antiepileptic drugs, ketogenic regimen and surgery are options that can be used to treat Dravet syndrome. Objective: To determine the management and therapeutics of genetic Dravet syndrome in a case history, with the purpose of identifying and highlighting innovative and practical components of the disease. Methodology: The procedure consisted of a detailed review of the patient's clinical history, as well as the pathology, using various recognized databases. These databases included publications from the last five years in Spanish and English. The ethical-legal processes were respected, including the patient's signature of consent or assent. Results: We report the case of a 44-month-old girl who experienced recurrent seizures during febrile episodes. Her motor and language development were atypical, with onset of walking at 2 years and 2 months and limited verbal ability. Suspicion of epilepsy, particularly of the Dravet type, was based on high recurrence of seizures, lack of improvement with current treatment, and physical examination findings. A skull CT scan and genetic study were performed to confirm the diagnosis. Topiramate was introduced in the treatment to improve seizure control. Conclusion: The case illustrates the characteristics of Dravet syndrome and the importance of an accurate diagnosis for proper management.