Treatment

Early diagnosis and aggressive management may minimize the neurologic deficit associated with infantile spasms. Although adrenocorticotropic hormone (ACTH) remains the treatment of choice because of favorable outcome, the frequency and severity of complications warrant consideration of alternative AEDs. Clonazepam and valproate have been effective in limited cases and warrant consideration in refractory cases or when the potential side-effect risk is too great with ACTH (e.g., active cytomegalovirus infection). Vigabatrin has particular effectiveness in infantile spasms associated with tuberous sclerosis.

Once infantile spasms are recognized, prompt neurologic referral is recommended. It is necessary to initiate a basic assessment including electrolytes, calcium, glucose, complete blood count, creatinine and lumbar puncture (LP). The LP is warranted to identify the rare syndrome of glucose transporter defect, which is a potentially treatable cause of infantile spasms. If the cerebrospinal fluid (CSF) glucose is less than 60 percent of blood glucose, this disorder should be highly suspected. The best course of treatment is the ketogenic diet. More complex metabolic testing is not necessary in the emergency department situation. MRI is the preferred neuroimaging study and can be done electively.

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