Unusual Cause of Neonatal Stertor

Abstract

We report a case of neonatal respiratory distress caused by an epignathus. This rare tumour, arising from the basisphenoid and protruding from the mouth, is associated with high perinatal mortality. We highlight unique clinico-radiological findings and multidisciplinary approach for a successful outcome. We review oropharyngeal teratomas reported in the literature with current management approaches.

Introduction

An epignathus is an extremely rare congenital teratoma that protrudes from the mouth and usually has an attachment to the basisphenoid bone [1]. A large tumour can obstruct the airway at birth and without proper intervention lead to a fatal outcome. The perinatal and surgical management of a baby with an epignathus will invariably require the expertise of the obstetrician, radiologist, neonatologist, paediatric otolaryngologist and anesthetist for a successful outcome.

Case Report

A day old male baby born of a non-consanguineous marriage was referred to our institution for the management of a tumour protruding from the oral cavity. The child weighed 2.7 kg and had noisy breathing and feeding difficulty. On inspection, a pink globular mass measuring about 3 × 2 cm covered with fine hair was seen protruding out of the mouth and showed no increase in size during crying (Fig. 1a). The child also had a swelling in the lower back which was suggestive of a meningocele (Fig. 1b). Imaging (magnetic resonance and computed tomography) of the face and brain showed a mass in the oral cavity arising from the basisphenoid with no intracranial extension and extending anteroinferiorly through a defect in the hard palate into the oropharynx and oral cavity, containing a well formed tooth. The findings were consistent with an oronasopharyngeal teratoma or epignathus (Fig. 2a, b). MRI of the spine showed spinal dysraphism with diastometamyelia, intrathecal lipoma and no meningocele.

Fig. 1.

a Solid tumor seen protruding into the oral cavity through the cleft palate, the surface covered with fine hairs, b swelling in the lower back suggestive of a meningocele

Fig. 2.

a CT-Axial view showing mass in the oral cavity with a tooth within (white arrow). b MRI-sagittal view showing the mass and its posterior attachment to the basisphenoid and no intracranial extension (white arrows). c Histopathology slide showing the structures derived from all three germinal layers-skin appendages, mucous glands and cartilage. (H&E at 40×)

On fibreoptic nasopharyngolaryngoscopy the tumour was found attached to the roof of the nasopharynx and both posterior nasal choanae were occluded by the mass. A plan to excise the mass through a transoral approach was made in consultation with the anesthetists, neonatologists and radiologists.

After transnasal intubation, the tumour was separated from the adjacent cleft palate the bony septum and anterior wall of the body of sphenoid and excised in toto. Following surgery, feeds were given via the nasogastric tube and subsequently changed to pharyngeal feeds.

Histopathology of the 3 × 2 × 1.2 cm mass weighing about 15gms confirmed the diagnosis of oropharyngeal teratoma. The tumour was lined by stratified squamous epithelium with skin appendages, connective tissue, lobules of mature adipose tissue, mucus glands and islands of cartilage (Fig. 2c). The tumour also contained a well formed tooth.

At the time of discharge the child was taking pharyngeal feeds. He had gained weight at the first follow up with no evidence of any residual lesion. Long-term follow-up showed that the child underwent cleft palate surgery at the age of 5 years. Neurosurgical assessment was done and no surgical intervention recommended.

Discussion

Epignathus an extremely rare congenital teratoma is believed to arise in the region of Rathke’s pouch from totipotential cells that grow in a disorganized manner but have retained the ability to proliferate and differentiate [1, 2]. One of the differentials for oronasopharyngeal teratoma is a congenital dermoid. Dermoid or hairy polyp are bigeminal in origin while. Teratomas are trigeminal in origin. Teratoids are composed of poorly differentiated tissue of trigeminal origin. Epignathi may show differentiation into a parasitic fetus with organs and limbs [3].

The clinical presentation, which depends on the size and location of the tumour, includes stertor, dyspnea, suffocation, difficulty in sucking and swallowing [4]. In our patient, the epignathus had limited mobility as it was protruding through the oral cavity. This feature also enabled oral breathing, although infants are known to be obligate nasal breathers.

Most of the oropharyngeal teratoma are diagnosed soon after birth or during first year of life. Radiological investigations should include CT scan or MRI to assess the site of origin, the size, its relation, attachment to adjacent structures, exclude intracranial extension, its association with neural or vascular structures and to determine the resectability of the tumour. Few of them are diagnosed prenatally by ultrasonography and MRI scans and EXIT (Ex-utero Intrapartum Technique) surgery can be planned [5-7].

Majority of the tumours can be removed by a transoral approach. Other approaches include transpalatal and transfacial approaches, laser excision, extra oral debulking of tumour followed by intra oral extirpation later and lateral pharyngotomy [2]. If it extends to the skull base combined neurosurgical and endonasal endoscopic-assisted approaches have been described [8].

Teratomas of head and neck may be associated with other anomalies, the commonest being cleft palate. This was seen in our patient too. The growing tumour prevents the palatal shelves from fusing with the nasal septum resulting in a cleft palate. Other reported anomalies are bifid nose or tongue, double pituitary, agenesis of the corpus callosum, hemicranium, anencephalous facial deformities and branchial cleft remnants [9, 10].

In conclusion oropharyngeal teratomas pose airway and feeding difficulties at birth. Prompt management by early excision through multi-disciplinary approach is highly recommended.