Title: Infantile spasms - subtle findings, profound diagnosis (submitted by John Peffer, MD)<br/>Author: Mimi Lu<br/><a href='http://umem.org/profiles/faculty/185/'>[Click to email author]</a><hr/><p>
Originally described a Dr. West in 1841 – it is a rare (~1200 cases annually) seizure disorder in young kids, generally less than 1 year old. Very subtle appearance, often with only bending forward or ‘jerking’ of the extremities as opposed to Brief Resolved Unexplained Event (BRUE) or tonic-clonic in description. The spasms can be thought of as a syndrome, where 70% of those have an undiagnosed rare metabolic/genetic disease.</p>
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A prompt evaluation, including labs, EEG, MRI, metabolic and genetic studies is vital in helping to establish a diagnosis which can have a profound impact on the patients prognosis. Examples might include Tuberous Sclerosis, Pyridoxine Dependent Seizures among over 50 others.</p>
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<em><u><strong>Bottom line:</strong></u></em> In pediatric patients less than 1 year old who present to the Emergency Department with a description of spasm-like episodes, consider Infantile Spasms on the differential, and consult your friendly neighborhood Pediatric Neurologist for help in determining a proper disposition.</p>
<fieldset><legend>References</legend>
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<a href="http://www.childneurologyfoundation.org/disorders/infantile-spasms/">http://www.childneurologyfoundation.org/disorders/infantile-spasms/</a></p>
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<a href="https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Spasms-Information-Page">https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Spasms-Information-Page</a></p>
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<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464162/">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464162/</a></p>
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<a href="https://www.healthychildren.org/English/health-issues/conditions/head-neck-nervous-system/Pages/Infantile-Spasms-What-Parents-Need-to-Know.aspx">https://www.healthychildren.org/English/health-issues/conditions/head-neck-nervous-system/Pages/Infantile-Spasms-What-Parents-Need-to-Know.aspx</a></p>
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