Clinical features and long-term follow-up of patients with West syndrome: 5-year developmental outcomes

Abstract

Objectives: West syndrome (WS) is an early childhood epileptic encephalopathy characterized by spasms, typically occurring within the first year of life. The International League Against Epilepsy reclassified WS as “infantile epileptic spasm syndrome” to enhance early diagnosis and treatment. It is marked by a triad of epileptic spasms, psychomotor retardation or regression, and hypsarrhythmia on EEG. The prognosis and response to classical anti-epileptic treatments are often poor, and factors influencing prognosis remain unclear. Methods: This study retrospectively analyzed 75 patients with WS over five years, assessing etiology, MRI findings, and neurodevelopmental outcomes according to ILAE guidelines. Results: The cohort comprised 35 females (46.7%) and 40 males (53.3%). The most common etiology was structural, observed in 41 patients (54.7%), followed by unknown causes in 19 patients (25.3%). Genetic, metabolic, and infectious causes were less common. Brain MRI findings were normal in 23 patients (30.7%). Treatment primarily involved Vigabatrin, which was used in 54.7% of cases, followed by Adrenocorticotropic hormone (ACTH) in 25.3%. Seizure control improved over time, with 24% of patients fully controlled at one year and 42.8% at five years. However, 28% showed no change in seizure frequency. The presence of structural abnormalities correlated with a poorer prognosis, while early and complete seizure control was associated with better outcomes. Mortality was 5.3%, with four patients passing away during the follow-up period. Conclusion: The study highlights that while the etiology remains a significant factor in the prognosis of WS, early intervention and effective seizure management are crucial for improving long-term outcomes.

Keywords

• west syndrome
• long-term prognosis
• development delay