Case report identifies diverse symptoms and tumor types in neurofibromatosis type 2, highlighting neuroimaging importance.
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.
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Hamza et al. (2025) studied this question.
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