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Neurofibromatosis type 2: A challenging case report and multidisciplinary management approach

Muhammad Usman1, Syed Muhammad Salman Hassan1, Maria Batool1

  • 1Department of Medicine, Nishtar Medical University, Multan, Pakistan.

JPMA. the Journal of the Pakistan Medical Association
|August 2, 2025
PubMed

Neurofibromatosis type 2 (NF2) is a genetic disorder characterised by multiple benign tumours in the nervous system. We present the case of a 16-year-old female with NF2, seen on April 29, 2023, at Nishtar Hospital, Multan, exhibiting symptoms such as swollen left eye, chronic headache, decreased vision, bilateral hearing loss, tinnitus, and gait issues. Diagnostic evaluation, including Magnetic Resonance Imaging (MRI), confirmed NF2 diagnosis based on National Institutes of Health (NIH) and Manchester criteria. Surgical resection is the primary treatment, but the patient refused and opted for herbal treatment due to personal and socioeconomic reasons. The report highlights the challenges in NF2 management and the importance of patient preferences.

Keywords:
Neurofibromatosis; Neurological Disorders; Radiology.

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