Case report
A 3 months old male infant presented to our department for persistent breathing and feeding difficulties. The patient was born during the total lockdown of COVID-19 pandemic, a full-term born neonate from a multiparous woman with no history of maternal drug intake. Patient’s siblings had no past medical problems. During pregnancy, the mother developed polyhydramnios, with normal FISH Test from the amniotic fluid. Delivery was by C-section, due to Nuchal cord, with precocious Neopuff at birth and difficult transition to extrauterine life, being admitted into neonatal intensive care unit (NICU).
On admission to the NICU the patient underwent a cytogenetic blood test with no defined pathological result. He also had feeding difficulties, with no swallow reflex and feeble suckling reflex, necessitating nasogastric tube feeding, normal hearing test (bilateral otoacoustic emission test – PASS) and intermittent laryngeal stridor. Due to the COVID-19 pandemic restrictions the patient did not undergo an ENT endoscopic evaluation at first. Later ENT evaluation showed inferior ankiloglossia, with surgical correction being performed in the same check-up. A suspicion of Pierre Robin sequence was raised.
Finally, at admission in our Department, the patient had a poor general status, with marked restlessness, chronic respiratory distress with nasal flaring, intercostal and suprasternal retractions and inspiratory stridor. Feeding was performed through a nasogastric tube. Other findings included: lack of facial expression, inability to fully close the eyes, convergent bilateral strabismus, drooling, dysmorphic facial features - oblique palpebral fissure, wide nasal root, abnormal nose shape, mandibular hypoplasia, a short neck, bilateral brachydactyly and bilateral simian crease (figures 1,2). Apart from a high arched palate, there were no other findings of anatomic facial abnormalities.
We performed a flexible awake fiberoptic laryngoscopy that revealed laryngomalacia: short ariepiglottic folds and large aritenoids obscuring glottis view in inspiratory phases, normal movement of vocal folds and no abnormalities of the subglottic and tracheal airway.
Performing a temporary tracheostomy was decided based on aspiration risks suggested by the obviuos neurological feeding difficulties and also in contemplating the need of a supraglottoplasty in order to relieve respiratory distress. Suspension microlaryngoscopy was performed with unilateral supraglottoplasty, reducing the volume of the left arytenoid mucosal layer and incising both aryepiglottic folds with cold instruments. Three days later we performed arytenoid mucosa removal to the opposite side, in order to avoid possible risks of stenosis of the supraglottic structures (figure 3).
The patient underwent an MRI scan revealing the pons with absent medial colliculus and absent abducens nerves (bilaterally), with hypoplastic VII-th nerve fibers and nuclei, suggestive for MBS brainstem alterations (figure 4).
Seven days after tracheostomy was performed, the tracheal canula was removed under close monitoring; feeding degraded abruptly during the same day, so the patient had to return to nasogastric tube feeding once again. Throughout the night, the infant had been in full respiratory distress so we had to recannulate the patient, followed by significant general and respiratory status improvement. Interestingly, feeding ability also returned, sleeping habits also improved, allowing the patient to be discharged in good general status and with normal feeding routine.