title: Anesthetic management of a parturient with hyperekplexia.
abstract: Hyperekplexia is a hereditary disorder characterized by exaggerated startle reflex in response to unexpected acoustic, tactile, and other stimuli. Neonates with hyperekplexia may present with hypertonia, developmental delays, apnea, and sudden death. The diagnosis is based on published clinical criteria. In some cases, a mutation encoding the postsynaptic inhibitory glycine receptors (GLRA1, GLRB) or presynaptic glycine transporter (SLC6A5) resulting in abnormal glycinergic neurotransmission is present. We report the case of a 38-year-old gravida 6 para 1 (G6P1) parturient with hyperekplexia who underwent successful vaginal delivery managed by the anesthesiology and neonatology service teams from initial antenatal consultation to labor and delivery to hospital discharge.
authors: From the *Division of Obstetric Anesthesia, Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Boston, Massachusetts; †Harvard Medical School, Boston, Massachusetts; ‡Department of Pediatrics, Brigham and Women's Hospital, Boston, Massachusetts; and §Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
authors: Anthony
authors: A
authors: Chau
authors: Marni
authors: M
authors: Roitfarb
authors: Jean Marie
authors: JM
authors: Carabuena
authors: William
authors: W
authors: Camann
mesh_terms: D000328:Adult; D000767:Anesthesia, Epidural / Q000379:methods*; D000773:Anesthesia, Obstetrical / Q000379:methods*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D013216:Reflex, Startle / Q000235:genetics; D016750:Stiff-Person Syndrome / Q000235:genetics
chemical_list: D005998:Glycine