The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues.

West syndrome is a distinctive type of epilepsy characterized by infantile spasms, hypsarrhythmia on EEG, and developmental regression. It affects children between 4 months and 2 years old, with an incidence of 2-3.5 per 10,000 births, being more common in boys. The syndrome is classified into symptomatic, idiopathic, and cryptogenic forms, based on underlying causes such as brain trauma, malformations, infections, chromosomal abnormalities (e.g., Tuberous Sclerosis Complex), or genetic mutations in genes like ARX and CDKL5. This article presents a case of West syndrome in an 8-months-old female without a known genetic cause, despite extensive genetic analysis. The patient presented to us with unprovoked spasms occurring over 2 months. Evaluation through EEG confirmed modified hypsarrhythmia, and MRI revealed significant brain lesions. A comprehensive metabolic panel was negative, and whole exome sequencing for the patient and her parents was inconclusive. This finding is not uncommon, as an estimated 40% of West syndrome cases remain without a confirmed genetic diagnosis. Current treatment recommendations by pediatric neurologists in the GCC include first-line therapy with vigabatrin alone or in combination with high-dose oral corticosteroids. If no response occurs within 2 weeks, ACTH or corticosteroids are added. ACTH, though effective, is less favored due to accessibility, cost, and relapse rates. Vigabatrin has the fewest side effects, followed by corticosteroids, with ACTH presenting the most, particularly irritability and hypertension. This case highlights the challenges in diagnosing and managing West syndrome, especially with inconclusive genetic analysis. It emphasizes the need for continued advancements in genetic diagnostics to uncover new mutations and improve patient outcomes.