American Journal of Neuroradiology

Case of the Week

Section Editors: Matylda Machnowska¹and Anvita Pauranik²
¹University of Toronto, Toronto, Ontario, Canada
²BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

Submit a Case Previous Cases ASPNR Pediatric Cases

April 7, 2022

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:
- Most commonly associated with:
  - hypertelorism (65%)
  - cleft palate (61%)
  - hypothalamic mass (58%)
  - broad or duplicated sella (55%)
  - oropharyngeal tumors (55%, usually teratomas)
  - vertebral malformations (55%)
  - agenesis or hypoplasia of the corpus callosum (39%)
- 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.
- Anomalies lead to increased risk of airway obstruction, birth asphyxia, and intracranial aneurysm.
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:
- Mass at the floor of the third ventricle: Hypothalamic hamartoma, glioma, craniopharyngioma
- 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.
Treatment:
- 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