Epiglottic aplasia in an infant with Joubert syndrome: Case
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Congenital abnormalities of the larynx are rare and are often associated with anomalies of multiple other organ systems and other areas of the upper aerodigestive tract. Primordial functions of the larynx include airway protection with phonation being a later adaptation. Abnormalities of the supraglottis are common causes of respiratory distress and feeding difficulties in children with the most common abnormality being laryngomalacia. Other anomalies including congenital laryngeal stenosis and atresia are significantly less common.

The patient was born at term to a 34-year-old G2P2002 mother. She had multiple prenatally diagnosed abnormalities including a large atrial septal defect, Dandy-Walker malformation, polydactyly of both feet and the right hand, syndactyly of bilateral feet, dysconjugate gaze, a soft tissue mass on the floor of the mouth and hypotonia. She was originally managed in the newborn nursery but was transferred to higher level of care due to persistent hypoglycaemic. The patient initially did well with oral feeds but began to have difficulty taking in adequate volumes on day of life (DOL) 3 when she began having increased work of breathing and desaturations with feeds.

Intermittent stridor was noticed with feeding attempts as well as a hoarse cry. Bedside flexible fiberoptic nasolaryngoscopy revealed gross abnormalities including absent epiglottis and hypertrophic arytenoids with diminutive interarytenoid area. The vocal folds demonstrated full adduction and abduction. The patient was subsequently taken to the operating room on DOL 15 for formal microlaryngoscopy and bronchoscopy where the above findings were again confirmed.

Speech and language pathology was consulted for evalution of stridor with feeds and dysphagia. A modified barium swallow study revealed intratracheal aspiration with thin liquids and laryngeal penetration with nectar thick liquids. She was transitioned to a nectar thickened consistency which she tolerated, though with increased feeding time. She was ultimately discharged home on DOL 18 tolerating full oral feeds with nectar thick consistency.

Congenital absence of the epiglottis is an exceedingly rare condition and is most commonly described in the setting of syndromic conditions.

Source: https://casereports.bmj.com/content/13/11/e237143?rss=1
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