April 7, 2022
A 44-month-old girl initially presents with glial choristoma ("hairy polyp") of the epipharynx and tongue and subsequent developmental delay.
Duplication of the Pituitary Gland (DPG)-Plus Syndrome
- Background:
- Very rare craniofacial developmental anomaly—about 52 cases reported
- More common in female patients
- Clinical Presentation:
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Most commonly associated with:
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hypertelorism (65%)
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cleft palate (61%)
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hypothalamic mass (58%)
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broad or duplicated sella (55%)
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oropharyngeal tumors (55%, usually teratomas)
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vertebral malformations (55%)
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agenesis or hypoplasia of the corpus callosum (39%)
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Rarely associated anomalies include duplication of the lips, tongue, mandible, optic chiasm, and basilar artery; supernumerary teeth; cerebellar/pontine hypoplasia; absence of olfactory bulbs/tracts and thyroid isthmus; diaphragmatic hernia; and cardiac and urinary anomalies.
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Anomalies lead to increased risk of airway obstruction, birth asphyxia, and intracranial aneurysm.
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- Key Diagnostic Features:
- 2 pituitary stalks (coronal view)
- Fused tuber cinereum of the hypothalamus and mammillary bodies (sagittal view)
- Elongated midline mass or thickening at the floor of the third ventricle
- Differential Diagnoses:
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Mass at the floor of the third ventricle: Hypothalamic hamartoma, glioma, craniopharyngioma
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Oral mass: Arteriovenous malformation, cystic lymphangioma (oro- or nasopharyngeal), epignathus, epulis, hairy polyp, hemangioma, heterotopic thyroid, macroglossia, meningoencephalocele, nasal glioma, neurofibroma, hamartoma or lipoma, congenital myoblastoma of the tongue, etc.
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Treatment:
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Screening for nasopharyngeal and oropharyngeal masses and management of cleft palate, precocious or delayed puberty, intracranial aneurysm (if altered basilar artery is present), and other anomalies
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