Spontaneous, Intrasphenoidal Rupture of Ecchordosis Physaliphora with Pneumocephalus Captured During Serial Imaging and Clinical Follow-Up: Pathoanatomic Features and Management.

Abstract

Ecchordosis physaliphora (EP) is a congenital, uniformly asymptomatic, hamartomatous lesion of the primitive notochord. Herein we report, to our knowledge, the first credible case report of unprovoked intrasphenoidal rupture resulting in recurrent pneumocephalus and cerebrospinal fluid leak, definitively captured over serial imaging during clinical and radiologic surveillance. A 68-year old woman with Marfan syndrome presented to the emergency department with the worst headache of her life. Imaging demonstrated extensive pneumocephalus and revealed a small, dorsal midline clival lesion consistent with EP and a transsphenoidal defect. Remote imaging encounters confirmed typical EP without pneumocephalus or cortical defect, and an uneventful clinical course years preceding presentation. Over the ensuing months during neurosurgical follow-up, the patient reported recurrent headaches, imbalance, and unprovoked clear rhinorrhea. Further imaging demonstrated an apparently enlarging transsphenoidal defect which was managed by endoscopic transnasal resection and nasoseptal flap. Pathologic evaluation confirmed the diagnosis of EP and chronic dural defect. This represents, to our knowledge, the first unambiguous example of spontaneous EP rupture and recurrent pneumocephalus captured over serial imaging. The case further underscores rare but potentially significant complications of EP and highlights management options.