Papilledema in NF2-related Schwannomatosis without Ventriculomegaly and Overt Intracranial Hypertension: A Case Series and Literature Review

Abstract

Neurofibromatosis 2-related schwannomatosis is a rare genetic disorder marked by the development of multiple central nervous system tumors and, occasionally, non-hydrocephalic intracranial hypertension. This report details two cases of papilledema in patients with neurofibromatosis 2-related schwannomatosis, characterized by normal ventricular morphology on Magnetic resonance imaging and refractory to conservative treatment. Both patients-a 23-year-old and a 31-year-old female-demonstrated complete resolution of papilledema and restoration of visual function following ventriculoperitoneal shunt placement. These cases underscore the critical role of early ventriculoperitoneal surgical intervention in mitigating vision loss and emphasize the necessity for rigorous clinical surveillance in this unique patient population.