UMEM Educational Pearls

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.

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.

Bottom line: 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.

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