posted in Medisage Pediatrics Community
A 2-year-old male presents with a three-day history of abnormal body movements, intermittent fever, and urinary incontinence. Upon examination, he is unresponsive, disoriented, with up-rolled eyes, a vacant stare, and abnormal limb movements. He was admitted to the pediatric ICU with status epilepticus. His history includes global developmental delay and recurrent seizures since infancy. Genetic testing reveals an SCN1A gene mutation.
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