Infantile Spasms Epilepsy Syndrome (IESS)

Diagnosis typically involves a combination of the following:

• Clinical evaluation: Delayed milestones, frequent falls, difficulty running or climbing
• Blood test: Elevated creatine kinase (CK) levels

A timely diagnosis requires high clinical suspicion and specific tests:

• Clinical observation: Clusters of brief, symmetric spasms often upon waking
• EEG: Hypsarrhythmia – a chaotic, high-voltage pattern
• Brain MRI: To detect underlying structural causes
• Genetic testing: Increasingly important to identify causative mutations
• Metabolic screening: In selected cases

If you notice unusual, repetitive movements in your infant, especially accompanied by loss of eye contact or developmental delay, immediate evaluation is recommended.

Infantile Spasms is a medical emergency. The earlier the treatment begins, the better the chances of reducing seizures and protecting brain development.

Standard treatments include:

• Hormonal therapy
• Adrenocorticotropic hormone (ACTH) injections
• Oral steroids (e.g., prednisolone)
• Antiseizure medications
• Vigabatrin, especially in tuberous sclerosis
• Other ASMs in refractory cases (e.g., topiramate, valproate)
• Ketogenic diet

Especially for treatment-resistant spasms

Surgical options

In cases of focal lesions, epilepsy surgery such as hemispherotomy or lobectomy

Gene-targeted therapy

Under research for specific mutations (e.g., CDKL5, STXBP1)

Treatment is individualized and guided by the underlying cause, patient age, and response.