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 supragl...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 2016-01, Vol.80, p.30-32
Main Authors: Chou, Courtney T, Siegel, Bianca, Mehta, Deepak
Format: Article
Language:English
Subjects:
Apnea - etiology
Bartter syndrome
Bartter Syndrome - complications
Bartter Syndrome - diagnosis
Diagnostic Errors
Female
Humans
Hypocalcemia
Hypocalcemia - etiology
Hypoparathyroidism
Hypoparathyroidism - diagnosis
Hypoparathyroidism - etiology
Infant, Newborn
Laryngomalacia - complications
Laryngomalacia - diagnosis
Laryngopharyngeal Reflux - diagnosis
Laryngopharyngeal Reflux - etiology
Neonatal apnea
Otolaryngology
Pediatrics
Respiratory Sounds - etiology
Stridor
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Summary: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.
ISSN:0165-5876
1872-8464
DOI:10.1016/j.ijporl.2015.11.023