EXPLORING THE CLINICAL AND ETIOLOGICAL SPECTRUM OF INFANTILE SPASMS: A COMPREHENSIVE STUDY

Objective: Infantile spasm (IS) is a severe epilepsy disorder affecting infants and young children, often presenting in conjunction with West syndrome. Recognized as a true Epileptic Encephalopathy, IS was first described by West in 1841. The disorder manifests through sudden, symmetric flexion and/or extension of the body, involving both flexor and extensor spasms. IS is relatively rare, affecting approximately 1.6 to 4.5 per 10,000 live births each year, with an onset typically between 3 and 7 mo. Studies reveal a slightly higher prevalence in males, though findings vary. Methods: The study was conducted in Department of Pediatrics, S. M. S. Medical College, Jaipur, aimed to explore the clinical and etiological dimensions of IS. The objective was to enable early diagnosis and identify potentially preventable causes of IS. A retrospective analysis of patient data was employed to examine the clinico-etiological spectrum associated with the disorder. Results: IS shows a rare incidence and a varied age of onset, ranging from the first week of life to 4.5 y. The development of IS is influenced by diverse etiological factors such as neurocutaneous syndromes, metabolic disorders, cortical malformations, perinatal brain injuries, postnatal infections, head trauma, and genetic anomalies. The pathophysiology of IS remains elusive, with prevailing theories suggesting either nonspecific insults during critical brain development phases or disruptions in the hypothalamic-pituitary-adrenal axis. Conclusion: Prompt diagnosis and intervention are crucial for managing infantile spasms. Hormonal therapy using corticotropin, ACTH, or steroids represents the primary treatment approach. In cases resistant to initial treatments and where structural abnormalities or neurodevelopmental regression are evident, surgical interventions may be warranted. Early identification and treatment correlate with more favorable responses and enhanced developmental outcomes. Despite this, delays in diagnosing and treating IS persist, highlighting the need for further investigation into how etiology affects treatment efficacy.