A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal...

Neurofibromatosis Type 2 (NF2) is a rare autosomal dominant disorder characterized by bilateral vestibular schwannomas and a spectrum of central and peripheral nervous system tumors. Early diagnosis can be challenging, particularly in the absence of classic skin findings or in resource-constrained settings.

We present the case of an 18-year-old female who developed progressive bilateral vision loss, hearing impairment, and a longstanding posterior cervical mass. Ophthalmic evaluation revealed bilateral optic atrophy, with profound visual impairment. Audiological testing confirmed bilateral sensorineural hearing loss. MRI of the brain and spine demonstrated bilateral cerebellopontine angle tumors consistent with vestibular schwannomas, along with extensive craniospinal tumors including spinal ependymoma and multiple schwannomas. Optical coherence tomography (OCT) revealed significant thinning of the retinal nerve fiber layer, consistent with optic neuropathy. The constellation of findings confirmed a diagnosis of Neurofibromatosis Type 2.

The simultaneous occurrence of optic atrophy, bilateral vestibular schwannomas, and multiple spinal tumors illustrates the classic but complex presentation of NF2. This case highlights how multimodal diagnostic tools - including neuroimaging, audiological assessment, and OCT - play a vital role in confirming the diagnosis in patients with progressive multisystem neurological deficits.

This case underscores the importance of considering NF2 in young patients with simultaneous multisystem neurologic deficits, even in the absence of cutaneous stigmata. A high index of clinical suspicion, supported by multimodal imaging, is essential for early diagnosis and appropriate multidisciplinary management in such complex presentations.