Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury

Abstract

Abstract Purpose Parry-Romberg syndrome (PRS) is a rare disorder characterized by slowly progressive hemifacial atrophy. Although the underlying etiology is unknown, proposed disease mechanisms which include autoimmune, infection, trauma, and other causes have been proposed as underlying disease mechanisms. Approximately, 10–20% of PRS patients have neurologic manifestations such as epilepsy, headaches, or associated vascular malformations. There are reports of PRS responsive to immunosuppressive medications, supporting the autoimmune hypothesis. Currently, the neuropathologic findings in patients with PRS are not well documented. Methods Herein, we present a case of a 19-year-old female with PRS, who underwent partial frontal lobectomy for intractable epilepsy. Results The resection specimen showed multifocal active lymphocytic (T-cell mediated) arteritis in midsized cortical arterioles, with the adjacent meninges showing fibrosis involving both the meningeal tissue and its vascular network. In addition, neuronal loss and gliosis were evident in the cortex, likely due to the associated vascular injury. Conclusions This report is the first to demonstrate active cerebral vasculitis in a patient with PRS, supporting the previous suspicion of inflammatory etiology in this disease. In addition, the widespread vascular fibrosis in the meningeal vessels and an area of cortical ischemia support the presence of previous inflammatory vascular processes in the area.