Case 1: A term infant with apnea and stiffening.

Abstract

A term male infant born via spontaneous vaginal delivery with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively, has an episode of apnea with stiffening and nonsuppressible whole body jerking for 2 minutes, occurring 5 hours after birth. Around 8 hours after birth, he has another episode but with exaggerated startle reflex, lip smacking, and eyelid fluttering. General examination shows no dysmorphic features, and findings are otherwise normal. Initial neurologic examination findings are unremarkable. Continuous electroencephalographic (EEG) monitoring with full neonatal montage is significant for intermittent sharp waves. Over the next day, the infant has 3 episodes of apnea with stiffening and nonsuppressible whole body jerking after each episode. These events are captured but EEG does not show them to be seizures. Initial management with phenobarbital and levetiracetam does not ameliorate spells. His antenatal course is unremarkable. Family history is remarkable for consanguineous parentage of Middle Eastern descent (parents are first cousins of first cousins). Laboratory evaluation including serum and cerebrospinal fluid studies for infectious and metabolic etiologies shows normal findings. Magnetic resonance imaging (MRI) on day 5 after birth reveals normal brain structure with nonspecific hyperintense basal ganglia signal and minimal subdural hemorrhage from the birthing process. Five days later, findings of a repeat MRI with added spectroscopy are normal. ### Diagnosis and Further Progress Given the clinical suspicion for hyperekplexia, the patient was started on a trial of carbamazepine (15 …