Rationale: Dravet Syndrome (DS) is a developmental epileptic encephalopathy affecting approximately 1 in 16,000 births, most commonly caused by de novo mutations in the SCN1A gene (70–85% of cases). It typically begins with febrile seizures and progresses to drug-resistant epilepsy, accompanied by neurocognitive and developmental delay. Early diagnosis and timely treatment initiation before the first year of life can improve long-term outcomes, reducing seizure frequency and severity in 30–50% of cases. This work aims to illustrate the diagnostic and therapeutic journey of Dravet Syndrome patients and their families in a tertiary care hospital in Mexico.
Methods:
Data collection from medical records of outpatient consultations at the Pediatric Neurology Service and Pediatric Epilepsy Clinic of Hospital Civil Fray Antonio Alcalde during the 2018-2025 period.
Results:
A total of 19 patients were studied (mean age [range] 9.02 [2–21] years; 11 (58%) male and 8 (42%) female. The mean age at seizure onset was 6 months [2–10], and the time between seizure onset and confirmed clinical or genetic diagnosis was 58 months [5–209] (Graphic 1).
Medical assessment revealed that nine patients [47%] were treated with contraindicated drugs (Graphic 2). Once DS diagnosis was made, first-line treatment was appropriate in 15 patients [79%]; second-line treatment was correct in five patients [16%]; no patient received appropriate third-line treatment.
Conclusions:
The study highlights delayed diagnosis of Dravet syndrome (average 4.8 years) and deficiencies in its management, characterized by the use of contraindicated drugs and limited administration of appropriate treatments.
These findings underscore the need to improve early detection, ensure availability of appropriate medications, and strengthen access to specialized therapies.
Funding: This study received no external funding.