PHACE syndrome: report of a case with a glioma of the anterior skull base and ocular malformations.
PHACE syndrome consists of the constellation of manifestations including Posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), Hemangiomas of the face and scalp, Arterial abnormalities, Cardiac defects, and Eye anomalies. We present the case of a patient who presented with respiratory distress at birth secondary to a large nasal glioma. She was subsequently found to have a ventricular septal defect (VSD), a facial hemangioma, and a malformation of the eye and optic nerve head. The nasal glioma, which extended to the cribriform plate, has not been described in this syndrome. The tumor was resected through a coronal incision, midline nasal bone osteotomy, and a retrograde dissection from the nasal bones to the anterior skull base. Glioma of the skull base is a novel and serious manifestation of this uncommon condition.
Cannady
Steven B
SB
The Head and Neck Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Kahn
Teri A
TA
Traboulsi
Elias I
EI
Koltai
Peter J
PJ
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications* / Q000628:therapy; D005145:Face; D005260:Female; D005910:Glioma / Q000150:complications* / Q000473:pathology* / Q000601:surgery; D006391:Hemangioma / Q000150:complications* / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D053685:Laser Therapy; D009669:Nose Neoplasms / Q000150:complications* / Q000473:pathology* / Q000601:surgery; D012535:Scalp; D012878:Skin Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000473:pathology*; D019292:Skull Base Neoplasms / Q000150:complications* / Q000473:pathology* / Q000601:surgery
D000893:Anti-Inflammatory Agents