ESPE Abstracts

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous cases. Our patient, the first child of a non-consanguineous Caucasian family, was diagnosed with cleft palate and an unusual lump on the dorsum of her tongue immediately after birth. She was started on assisted bottle feeding and referred to the cleft palate surgeon. Before this appointment could happen, she was hospitalised twice with complaints of respiratory distress during feeding and in flat position. At 11 weeks of age, she was seen by the cleft surgeon, who identified a wide palatal cleft with a large nasopharyngeal mass partly filling the defect. He also noted a nasal dermoid cyst, a nasal dimple with protruding hair, hypertelorism, retrognathia and low-set ears. The patient’s first MRI brain scan at 5 months of age revealed duplicated pituitary gland, thickening of the floor of the third ventricle (hypothalamic hamartoma), duplication of basilar artery, cleft in odontoid peg, large right nasopharyngeal teratoma intimately related to nasal septum, and trans-cranial nasal dermoid cyst extending through the nasal bones to just above the cribriform plate. A skull-base CT scan confirmed the midline cranial osseous defect. The patient was diagnosed with DPG-plus syndrome. Resection of nasopharyngeal mass and tongue polyp was performed at 8 months of age, which remarkably reduced the patient’s breathing and feeding difficulties. Histopathology revealed the nasopharyngeal mass to be a mature benign teratoma and the tongue polyp, a hamartoma. The cleft palate was repaired at 15 and the trans-cranial dermoid cyst and nasal pit were resected at 27 months of age. The dermoid cyst was lined by keratinised squamous epithelium and contained adnexal structures with no evidence of malignancy. At 3 years of age, the patient shows normal growth, development and neurological examination. Baseline endocrine tests at 7, 16 and 27 months of age were normal. She will need long-term neuroendocrine surveillance, specifically for central precocious puberty and any recurrence of nasopharyngeal or intracranial pathology. This case report adds significantly to the growing body of literature on the clinical presentation and complex management of children with DPG-plus syndrome.