Term Infant With Apnea and Seizure-Like Activity

The patient is a former 39-week gestational age girl born via spontaneous vaginal delivery to a vaginal delivery to a mother, 35 years of age, gravida 7 para 5015. Pregnancy and delivery are complicated by maternal herpes simplex virus (HSV)-2 (recurrent, with no lesions present at birth), concern for nuchal cord, meconium at birth, and fetal decelerations. Antenatal imaging showed polyhydramnios but was otherwise normal. Apgar scores are 3 at 1 minute, 6 at 5 minutes, and 7 at 10 minutes. The infant is born at a level 1 nursery and requires continuous positive airway pressure (CPAP) and supplemental oxygen after delivery. Due to hypoxia with the patient on CPAP of 5 cm H2O and fraction of inspired oxygen 0.30, transfer is requested to a higher level of care neonatal intensive care unit (NICU). There is no concern for perinatal depression or hypoxic-ischemic encephalopathy (HIE) reported.During transport, the infant has 2 desaturation events that resolve with stimulation and increased supplemental oxygen. Upon presentation to the NICU, her initial examination is within normal limits. She subsequently develops recurrent apnea episodes associated with desaturation to 40%; during each episode, the patient is noted to have tensed extremities and rhythmic flexion and extension movements. The NICU team is initially most concerned for seizures and consults neurology for evaluation and placement of video electroencephalography (EEG). An EEG is ordered, and antimicrobials are broadened to include acyclovir for HSV coverage.The apnea episodes increase in frequency. Therefore, the team proceeds with intubation to protect the patient’s airway. Intubation is difficult, requiring more than 3 attempts, with successful intubation by the supervising physician.The differential diagnosis for apnea and seizure-like-activity in the neonatal population is broad. Most common causes include infections, such as meningitis or sepsis, and neurologic pathologies, such as HIE, mass-effect, bleeding, or stroke. Additional etiologies can include genetic abnormalities such as in-born errors of metabolism, electrolyte derangements, or upper airway obstruction, especially in the setting of syndromes like trisomy 21, Beckwith-Wiedemann, or Treacher Collins.The supervising physician notes a round, pink-colored mass along the posterior oropharynx during intubation, leading to consultation of the pediatric otolaryngology (ENT) service for bedside laryngoscopy. The team performs a flexible laryngoscopy, which visualized a mass posterior to the uvula obstructing the choanae.Computed tomography (CT) demonstrated a large heterogenous naso-oral-pharyngeal mass containing a partially formed tooth, macroscopic fat, and a small amount of enhancing tissue. The mass measures 1.1 × 2.0 × 3.5 cm and shows remodeling of the smooth bone of the posterior nasal cavity. In the meantime, the EEG returned as normal. CT imaging was suggestive of an epignathus, an oropharyngeal teratoma (Figure 1), particularly due to the presence of a tooth. magnetic resonance imaging (MRI) was also obtained to better understand tissue attachments and borders prior to surgery (Figure 2). The mass is removed by ENT (Figures 3 and 4). Pathology demonstrates a mixture of mature fatty tissue, salivary glands, squamous epithelium with keratin pearls, and a focus of dental papillae with enamel epithelium and ameloblasts consistent with a mature teratoma.Oropharyngeal teratomas, also known as epignathus, are a rare form of congenital teratoma originating from the skull base often with attachments at the hard palate or mandible.1,2 It is a germinal neoplasm consisting of tissues from all 3 germ layers. The incidence of epignathus is estimated to affect between 1 in 35 000 to 1 in 200 000 live births.3 Depending on their location, these masses may present with dysphagia, rhinorrhea, or nasal blockage; if large, they may cause respiratory obstruction and cyanosis.4Orofacial teratomas identified before birth are often large and can be linked to polyhydramnios, hydrops fetalis, and preterm delivery, leading to a mortality rate of more than 50%.5 The most serious postnatal complication is severe respiratory distress caused by airway obstruction. Prenatal diagnosis can enable early recognition and anticipatory treatment such as ex utero intrapartum treatment procedures in the most severe cases. However, smaller masses may go undetected in the prenatal period and may present unexpectedly after delivery.It is preferred to detect masses of the airway prenatally to prepare for difficulties with airway at birth. In neonates with obstructive apneas, it is important to prioritize the ABCs—airway, breathing, and circulation. Every effort should be made to stabilize the airway. In this case, the mass was noted on intubation. Performing a thorough and full physical examination on all patients is critical. Once the diagnosis of epignathus is determined, management requires multidisciplinary care including NICU and ENT. Further evaluations like flexible laryngoscopy and imaging such as CT and MRI must further delineate the lesion prior to surgical planning. Surgical excision should not be delayed because while the lesions are benign, they may grow quickly and cause further airway destruction and feeding difficulties. There is low concern for recurrence. Scheduling short-term follow-up is appropriate to ensure that the patient has healed from surgery and resumed normal breathing and feeding.Three days after admission, the patient is taken to the operating room for removal of the mass. General anesthesia was administered. The mass was visualized, confirmed to be attached to the left posterior pharyngeal wall, and removed. The patient is extubated to room air the following day. She had no further episodes of apnea or abnormal movements; the movements were thought to be secondary to discomfort associated with airway obstruction. Oncology is consulted and out-patient follow-up every 3 months for surveillance is planned. Upon discharge, the patient has normal work of breathing on room air without noted apneic events since excision.Neonatal epignathus is a true congenital teratoma and may present with prenatal polyhydramnios and obstructive apneas in the neonatal period.Consider obstructive pathologies in the differential diagnosis for apnea even in non-syndromic infants.Prioritize airway stabilization in neonates with apneas. Potential diagnostic material may be visually noted on intubation.American Board of Pediatrics Neonatal–Perinatal Content SpecificationKnow the various causes of stridor in the newborn and how to assess severityKnow the clinical manifestations and approaches to therapy of neck masses in the newborn infant