How does the cause of infantile spasms affect treatment?

Shaun A. Hussain, MD
The cause of infantile spasms affects the treatment in a few special circumstances. The big ones on this list are tuberous sclerosis, pyridoxine responsive seizures and GLUT1 transporter dysfunction.

Tuberous sclerosis is a neurocutaneous disorder, meaning that it has manifestations in the brain and the skin. Children with tuberous sclerosis seem to respond exceptionally well to vigabatrin (Sabril). In that population, vigabatrin should be the first choice, not steroids or adrenocorticotropic hormone (ACTH).

In children with pyridoxine responsive seizures, it may be obvious that pyridoxine should be used to treat the seizures. However, this is a rare cause of infantile spasms and should not be used first line without other therapies combined.

GLUT1 transporter dysfunction refers to a problem in the brain in which glucose cannot be shuttled to the brain appropriately. The ketogenic diet is a perfect treatment for this disorder because it shifts the brain's reliance on sugars and carbohydrates to fats, which is the key ingredient in the ketogenic diet. Several studies suggest that the ketogenic diet is very effective in patients with GLUT1 transporter dysfunction, and some studies suggest that it may be effective for treatment of infantile spasms in general. 

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