Abstract
A term male newborn is transferred to a tertiary care center 8 days after birth for evaluation of seizures. The neonate is born to a 35-year-old gravida 1 para 0 woman after a spontaneous pregnancy complicated by diet-controlled gestational diabetes and fetal pyelectasis, which resolved at 32 weeks. Prenatal maternal laboratory studies were unremarkable, and the only maternal medication used during pregnancy was a multivitamin. Both parents are known biotinidase deficiency carriers. Labor is spontaneous but complicated by 4 hours of failure to progress in an asynclitic presentation, which is converted to emergent cesarean section because of late decelerations without recovery. Estimated gestational age is 39 1/7 weeks based on estimated date of conception, but postdelivery examination reveals dry and peeling skin consistent with a gestational age of 41 weeks. Apgar scores are 3, 7, and 9 at 1, 5, and 10 minutes, respectively, and continuous positive airway pressure is required after delivery for respiratory distress. The neonate’s birthweight is 3.180 kg (32nd percentile), length is 50.4 cm (52nd percentile), and head circumference is 35.3 cm (63rd percentile). The neonate is initially transferred from the birth hospital to an outside NICU for monitoring of respiratory status with reportedly unremarkable physical examination findings. On admission to the outside NICU, blood cultures are sent and capillary blood gas measurements are unremarkable. Empiric antibiotics are deferred. Abnormal movements observed on day 2 after birth are described as rhythmic, involving more than 1 extremity, and sometimes resolving with holding. At the time, the infant’s condition is stable with 2 L nasal cannula at a fraction of inspired oxygen of 21% and he is breastfeeding on demand. The neonate is also noted to have significant right-sided torticollis. ### Progression Because of concern for seizures, electroencephalography (EEG) is performed, which reveals status epilepticus and numerous focal seizures over …
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