Pituitary Duplication Presenting as Airway Obstruction: A Case Report

Objective:

1. To report a case of pituitary duplication, an extremely rare malformation of failed blastogenesis, that initially presented as an obstructive oral cavity mass on prenatal imaging, requiring delivery by ex utero intrapartum (EXIT) procedure.

2. To review the literature concerning the embryogenesis of the pituitary gland and how our patient's deformities compare with previously reported cases of embryonal defects of the hypothalamic—pituitary axis.

Methods: Case report and review of the literature.

Case Report: A G2P1 female with a pregnancy complicated by polyhydramnios was referred to Otolaryngology after prenatal imaging revealed a large obstructive mass protruding from the oral cavity of the neonate. The child was delivered by EXIT procedure, during which the airway was secured by endotracheal intubation subsequent tracheostomy. Postnatal imaging demonstrated an array of anomalous craniofacial malformations indicative of a midline blastogenesis defect. Findings included a duplicated maxilla in osseous continuity with a cleft hard palate, a large epignathic teratoma, hypoplastic corpus callosum, persistent craniopharyngeal canal, and duplications of the pituitary glands, aqueducts of Sylvius, and complete duplication of the basilar artery. There was an unusually large left lingual artery, which extends superiorly within a midline stalk in the posterior oral cavity to supply the accessory maxilla. Preoperative embolization of the massively enlarged left lingual artery was performed by the Interventional Radiology service, and on day 21 of life the patient was taken to the operating room for successful excision of the duplicated maxilla and epignathic teratoma. Cleft palate repair and Le Fort I Osteotomy with maxillary advancement will be performed at a later date.

Conclusions: Pituitary duplication is a rare malformation, with less than 30 reported cases in the literature. These duplications typically present with a spectrum of abnormalities related to failed midline skull base embryogenesis, including epignathic teratoma, duplicated facial structures, and corpus callosum dysgenesis. As previous reports detailed partial basilar artery duplication in conjunction with pituitary duplication, we believe this is the first reported case with complete duplication of the pituitary glands, aqueducts of Sylvius, and basilar arteries, with each artery ending in a distinct posterior cerebral artery. We also believe this is the first case with an identified gene microarray deletion of Xp22.3 to be reported.