2025 Proffered Presentations
S278: DUPLICATION OF THE PITUITARY GLAND WITH A PERSISTENT CRANIOPHARYNGEAL CANAL
Kevin Fujita-Howie, MD; David Gudis, MD; Neil Feldstein; Columbia University Medical Center
Introduction: Duplication of the pituitary gland plus is a very rare anomaly that is associated with a variety of other craniofacial abnormalities, thus aptly named duplication of the pituitary gland-plus, or DPG-plus, syndrome. Less than 50 cases have been reported, with some patients exhibiting a mass within a persistent craniopharyngeal canal. If resection of the mass is required, a potential intracranial communication will result in a CSF leak with subsequent repair of the skull base. We present a case of newborn with the discovery of DPG-plus after workup for craniofacial abnormalities, including a persistent craniopharyngeal canal.
Case Description: A 39w5d old female was admitted to the neonatal intensive care unit soon after a normal spontaneous vaginal delivery following observation of a mass emanating from the hard palate and an abnormally shaped tongue. CT revealed a mass within a persistent craniopharyngeal canal with an osseous defect in the sphenoid body without intracranial communication. Bilateral hard palate defects with a mass in the left-sided defect, along with supernumerary teeth, were also seen. MRI revealed duplication of the pituitary gland with a non-enhancing mass in the hypothalamus. The lesion in the craniopharyngeal canal was hyperintense on T2 and a possible dural defect was noted on T1 sequence. The mass in the palate defect was noted to be separate from the craniopharyngeal canal mass. Although a nasogastric tube was placed for feeding, the patient was evaluated by speech and language pathologists and is currently practicing PO intake with a specialty feeder. Despite the masses in the upper airway, the patient has remained stable on room air. After a multidisciplinary discussion, the patient is scheduled for excision of upper airway masses with possible skull base repair.
Discussion: DPG-plus syndrome is an extremely rare constellation of craniofacial anomalies that can vary from patient to patient, however, all cases exhibit two pituitary glands. Further anomalies reported include cleft palate, hypertelorism, duplication of lips and/or mandible, absent olfactory bulbs, and duplication of the basilar artery. Anterior clefting of the cervical vertebrae has also been reported. Several theories for this syndrome have been proposed, including incomplete twinning and insult from teratogens. The most widely accepted theory is the splitting of the rostral notochord and prechordal plate during blastogenesis, which have been associated with duplication of other midline structures. Some cases, such as the one described above, involve skull base defects with masses that may or may not require excision. During surgical management skull bases surgeons play an active role in deformity correction, especially those with imaging confirmed intracranial communications.
