Infantile Spasms Epilepsy Syndrome (IESS)

Infantile Spasms, also known as Epileptic Spasms or West Syndrome, is a severe and rare epilepsy syndrome that typically begins in infancy, most commonly between 3 and 12 months of age. It is characterized by sudden, brief muscle contractions (spasms), a distinct EEG pattern called hypsarrhythmia, and often developmental regression or stagnation.

Early diagnosis and aggressive treatment are crucial to improve long-term neurodevelopmental outcomes.

Sudden, brief jerking or stiffening movements, often involving the neck, trunk, and limbs./Spasms in clusters/Movements often look like a sudden nodding of the head or bending forward of the body/ Spasms often happen upon waking or falling asleep/ Developmental delays or regression/ Irritability or unusual fussiness after episodes

The underlying causes of IESS are diverse and include:

• Structural brain abnormalities: Cortical dysplasia, perinatal brain injury
• Genetic mutations: Including ARX, CDKL5, STXBP1, TSC1/2
• Metabolic disorders: Such as mitochondrial diseases
• Neurocutaneous syndromes: Especially Tuberous Sclerosis Complex (TSC)

Regardless of the cause, the abnormal neuronal activity during brain maturation results in disorganized EEG patterns and cognitive decline.