title: Stridor and apnea as the initial presentation of primary hypoparathyroidism.
abstract: We present a previously undescribed case of stridor and apnea as the initial presentation of primary hypoparathyroidism. A neonate presenting with these symptoms was initially diagnosed with laryngopharyngeal reflux and laryngomalacia. After failing medical management, she underwent supraglottoplasty with improvement of stridor, but persistent apneic events. Further work-up showed severe hypocalcemia due to hypoparathyroidism. Subsequent genetic testing revealed a diagnosis of Bartter Syndrome Type V, a rare cause of primary hypoparathyroidism. Although uncommon, hypocalcemic tetany can present as apneic episodes in the setting of unrecognized primary hypoparathyroidism. Electrolyte abnormalities should be explored in neonates with recurrent apnea of unknown etiology.
authors.affiliation: Division of Pediatric Otolaryngology Children's Hospital of Pittsburgh, 4401 Penn Avenue, Faculty Pavilion, 7th Floor, Pittsburgh, PA 15224, United Sates; Department of Otolaryngology University of Pittsburgh School of Medicine, 203 Lothrop Street, Suite 500, Pittsburgh, PA 15213, United States. Electronic address: chouct@upmc.edu.
authors.forename: Courtney T
authors.initials: CT
authors.lastname: Chou
authors.affiliation: Division of Pediatric Otolaryngology Children's Hospital of Pittsburgh, 4401 Penn Avenue, Faculty Pavilion, 7th Floor, Pittsburgh, PA 15224, United Sates; Department of Otolaryngology University of Pittsburgh School of Medicine, 203 Lothrop Street, Suite 500, Pittsburgh, PA 15213, United States. Electronic address: bsiege@med.wayne.edu.
authors.forename: Bianca
authors.initials: B
authors.lastname: Siegel
authors.affiliation: Division of Pediatric Otolaryngology Children's Hospital of Pittsburgh, 4401 Penn Avenue, Faculty Pavilion, 7th Floor, Pittsburgh, PA 15224, United Sates; Department of Otolaryngology University of Pittsburgh School of Medicine, 203 Lothrop Street, Suite 500, Pittsburgh, PA 15213, United States. Electronic address: dkmehta@texaschildrens.org.
authors.forename: Deepak
authors.initials: D
authors.lastname: Mehta
mesh_terms: D001049:Apnea / Q000209:etiology; D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000209:etiology*; D007231:Infant, Newborn; D055092:Laryngomalacia / Q000150:complications* / Q000175:diagnosis; D057045:Laryngopharyngeal Reflux / Q000175:diagnosis / Q000209:etiology*; D012135:Respiratory Sounds / Q000209:etiology*
keywords: Bartter syndrome; Hypocalcemia; Hypoparathyroidism; Neonatal apnea; Stridor