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Case Reports
. 2025 Jun 11:12:241-247.
doi: 10.2176/jns-nmc.2025-0034. eCollection 2025.

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

Eiji Ito  1 , Kiyoshi Saito  2 , Masazumi Fujii  3 , Shigenori Takebayashi  4 , Lushun Chalise  4 , Ryuta Saito  5 , Tadashi Watanabe  6
Affiliations
Case Reports

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

Eiji Ito et al. NMC Case Rep J. .

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.

Keywords: NF2-related schwannomatosis; intracranial hypertension; non-hydrocephalic; papilledema; ventriculoperitoneal shunt.

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Conflict of interest statement

The authors declare that they have no conflicts of interest. All authors have completed and submitted online self-reported Conflicts of Interest Disclosure Statement Forms to the Japan Neurosurgical Society website in compliance with journal requirements.

Figures

Fig. 1
Fig. 1
Preoperative fundus and MRI findings in case 1 demonstrate bilateral papilledema and multiple intracranial tumors. (A, B) Preoperative fundus examination revealed pronounced bilateral papilledema. (C-E) Preoperative MRI identified multiple cranial nerve tumors and meningiomas, with no evidence of tumor progression or ventricular enlargement. (F) T2-weighted MRI revealed edema in the intraorbital segment of the right optic nerve. (G) Right cerebral angiography (anterior-posterior view) demonstrated hypoplasia of the right transverse sinus without abnormalities in the superior sagittal sinus or evidence of delayed venous drainage. (H) Left cerebral angiography (anterior-posterior view) showed no abnormalities in the superior sagittal sinus or other venous outflow pathways indicative of obstruction. MRI: magnetic resonance imaging
Fig. 2
Fig. 2
Postoperative fundus findings demonstrating resolution of bilateral papilledema. (A, B) Postoperative fundus examination confirmed complete resolution of bilateral papilledema.
Fig. 3
Fig. 3
Preoperative imaging and ophthalmologic findings in case 2 illustrate bilateral papilledema. (A, B) Preoperative fundus examination revealed significant bilateral papilledema. (C-E) Preoperative MRI depicted multiple tumors involving cranial nerves and meningiomas, with no evidence of tumor progression or ventricular dilation. MRI: magnetic resonance imaging
See this image and copyright information in PMC

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