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.