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.
