An infant with myoclonic jerks, global developmental delay, and failure to thrive.

摘要

A 5-month-old male infant with a history of benign myoclonic jerks, global developmental delay, and failure to thrive was brought to the ER with noisy breathing after an outpatient brain MRI scan. He had been sedated and intubated for the procedure. At the hospital, he had a 40-minute episode of jerking and was admitted to the pediatric ICU. Reviewing his past medical history, he was born at 39 weeks gestation to a then 23-year-old G1P0 mother with uncomplicated pregnancy via vaginal delivery. Birth weight was 3970 g (8 pounds 12 ounces). There was a history of meconium aspiration, and he had trouble breathing for 2 days and was treated with an oxygen mask without intubation and discharged after 2 days. He had a normal newborn screen. At his first pediatric visit, he was reportedly normal on exam, and his pediatrician did not have any concerns. However, his grandmother had been concerned about him since his birth because he was always a fussy, irritable baby and had episodes of increased and frequent crying for unknown reasons. He even cried in his sleep. He did not track with his eyes or reach for objects that were in front of him, had very poor head control, never smiled spontaneously, and never attempted to roll over. He had frequent spitting up since birth, and his pediatrician changed his formula and started him on ranitidine for presumed gastroesophageal reflux disease.