Case Report
Year: 2023 | Month: April-June | Volume: 8 | Issue: 2 | Pages: 495-498
DOI: https://doi.org/10.52403/ijshr.20230265
Neurofibromatosis 2: A Case Report
Richa Mehra1, Varun Sachdeva2
1MS ENT Zonal Hospital Mandi (H.P.)
2MS Orthopaedics, Zonal Hospital Mandi (H.P.)
Corresponding Author: Varun Sachdeva
ABSTRACT
Neurofibromatosis 2 (NF2) is caused by inactivating alterations in the NF2 gene on chromosome 22q12.2. The 100-kb NF2 gene is encoded by 17 exons. Patients with NF2 may present with distinctive “plaque-like” cutaneous schwannomas, ophthalmologic findings, or neurologic deficits such as hearing loss or peripheral neuropathies which may prompt further radiologic or genetic evaluation. Café au lait spots may be present in up to 50% of patients but they are typically fewer in number and not associated with freckling as in NF1. This is a case report of a 20 year old female who presented to us with left parapharyngeal schwannoma along with bilateral vestibular schwannoma.
Keywords: NF 2- Neurofibromatosis 2, VS- Vestibular Schwannoma, CECT-Contrast enhanced computed tomography, MRI-Magnetic resonance imaging