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- Anthony Chau, Marni Roitfarb, Jean Marie Carabuena, and William Camann.
- 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.
- A A Case Rep. 2015 Apr 15;4(8):103-6.
AbstractHyperekplexia 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.
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