Oropharyngeal neuroglial heterotopia/choristoma with intracranial and extra-oral extension: A case report

Background: Neuroglial heterotopia, also referred to as glial choristoma, is a rare congenital malformation characterized by ectopic glial tissue outside the central nervous system. While most cases are reported in the nasal cavity, non-nasal head and neck presentations are extremely rare. Intracranial extension is even more uncommon, and extra-oral protrusion has not been documented to date. Case presentation: This case reports a 33-day-old male infant born with a large, non-hemorrhagic mass protruding from the oral cavity, diagnosed antenatally and managed via ex utero intrapartum treatment (EXIT). Imaging revealed a solid and cystic lesion extending from the oral cavity into the right middle cranial fossa through a skull base defect, with remodeling of surrounding bony structures. The mass demonstrated both intracranial and extra-oral components, with prominent vascularity. A two-stage surgical approach was performed: initial resection of the intracranial portion via right pterional craniotomy by neurosurgery, followed by a transpalatal excision of the oral mass by otolaryngology. Reconstruction included an inferiorly based palatal flap and acellular dermal matrix grafting. Histopathology confirmed neuroglial heterotopia, with glial tissue lined by stratified squamous epithelium and choroid plexus structures. Immunohistochemistry showed slight increases in Ki-67 and CD45. Conclusion: This case represents the first reported instance of oropharyngeal neuroglial heterotopia with both intracranial extension and protrusion into the oral cavity. Multidisciplinary care with timely surgical intervention and histopathological confirmation is essential for optimal outcomes in such rare and complex congenital anomalies.