# Neurofibromatosis Type 2: A Rare Case of Multiple Intracranial Schwannomas, Meningiomas, and Ependymomas (MISME) Syndrome and Literature Review

## TL;DR

This paper presents a rare case of a woman diagnosed with Neurofibromatosis Type 2, highlighting the importance of early detection and multidisciplinary care for this genetic disorder.

## Contribution

The paper contributes a rare clinical case of NF2 with MISME syndrome and emphasizes the role of neuroimaging in diagnosis.

## Key findings

- A 35-year-old woman with no family history was diagnosed with NF2 through MRI showing multiple CNS tumors.
- The case highlights the diverse clinical manifestations of NF2 and the importance of early diagnosis.
- A multidisciplinary approach is recommended for optimal management of NF2.

## Abstract

Neurofibromatosis type 2 (NF2) is a rare genetic disorder affecting the nervous system, primarily characterized by benign tumor formation, including bilateral vestibular schwannomas, meningiomas, and ependymomas. These tumors are collectively known as MISME (multiple intracranial schwannomas, meningiomas, and ependymomas) syndrome. We report a case of a 35-year-old woman with no notable medical or family history, who presented with progressive hearing loss and right upper limb weakness. Magnetic resonance imaging revealed multiple central nervous system tumors, confirming the diagnosis of NF2. The patient was referred to the neurosurgery department for further management; however, no follow-up information was received, and it was suspected that the patient may have sought care elsewhere. This case underscores the diverse clinical manifestations of NF2 and emphasizes the critical role of neuroimaging in the early diagnosis of the condition. A multidisciplinary approach is essential for optimal care, and future advances in targeted therapy may significantly improve patient outcomes. Clinicians should remain vigilant for the diverse presentations of NF2, as early detection and comprehensive management can positively influence the disease progression and quality of life.