Purpose or Case Report: Duplication of the pituitary gland (DPG) is an extremely rare malformation, with only 40 reported cases in the medical literature. Phenotypes range from isolated DPG with normal development to cases with additional anomalies leading to morbidity and mortality (“DPG-plus” syndrome). We describe a patient with comprehensive fetal and postnatal imaging detailing known findings of DPG-plus syndrome and previously undescribed brain and body anomalies.

An infant male was diagnosed with an obstructive oral cavity mass by fetal MRI. Postnatal neuroimaging showed a fatty oral cavity mass containing dysmorphic mandibular elements. Upon biopsy, pathological assessment showed duplication of the maxillary complex versus mesenchymal hamartoma. Other anomalies included duplicated nasal cavity, absent olfactory bulbs, duplicated sella with sellar spine, optic chiasm and tubomamillary fusion, duplicated basilar artery, persistent falcine sinus, cleft palate, and bifid tongue. In addition, there was an unusual complex brainstem and cerebellar anomaly and extensive anterior cervical vertebral clefting with anterior cervicomedullary junction myelomeningocele. Body imaging showed horseshoe pulmonary sequestration, hiatal hernia, multiple intrathoracic and intraabdominal spleens in a manner inconsistent with heterotaxy, midline liver, duplicated IVC, and vertebral anomalies. Echocardiogram showed double outlet right ventricle. Genetics evaluation revealed variants of unknown significance in CCDC39, TBX5, and ZMYND10 that were considered unlikely to be related to the observed anomalies. Due to poor neurologic prognosis, the patient was transitioned to comfort care and passed away at 4 weeks of age.
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Conclusions: A wide spectrum of phenotypes is described in DPG-plus syndrome. To our knowledge, our case is the first with comprehensive fetal and postnatal brain, head and neck, and body ultrasound, CT, and MRI showing both known and novel anomalies. The hindbrain, cervicomedullary junction, and body anomalies are particularly distinctive. While the etiological mechanisms for DPG-plus syndrome and the unique combination of anomalies in our patient remain unknown, the constellation of predominately midline brain, head and neck, spine, and thoracoabdominal abnormalities favors a relatively severe notochordal splitting phenomenon. Such unique cases may further knowledge about the pathophysiology of this rare syndrome and ultimately shed light on incompletely understood embryological processes.