A patient has multiple meningiomas, bilateral vestibular schwannomas and early onset cataract. The most likely diagnosis is: –

Correct Answer: Neurofibromatosis type 2
Description: Neurofibromatosis Type 2 Autosomal dominant disorder resulting in a range of tumors, most commonly bilateral eighth nerve schwannomas, multiple meningiomas, and ependymomas of the spinal cord. In addition, a characteristic type of cataract, juvenile posterior subcapsular lenticular opacity, occurs in NF2. This syndrome is caused by mutation of the NF2 gene on chromosome 22q; NF2 encodes a protein called neurofibromin 2/merlin protein.
Category: Pathology
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