ENT Quiz – Its all in the genes!

acoustic neuroma

A 42-year-old female was seen at an outside facility for progressive bilateral hearing loss and was referred to the otology clinic. On further inquiry, she gave a history of chronic headache, mild balance difficulties and past history of tonic-clonic seizures, treated with anti-epileptics for a year.

Physical examination revealed an alert and oriented patient, with normal cognitive function. Few scattered skin lesions that resembled skin tags were also found.

Evaluation of the patient’s hearing revealed bilateral sensorineural loss, profound on the right, and moderate on the left. Brainstem evoked response audiometry showed the absence of response on the right and only one wave on the left.

A Magnetic resonance imaging of the brain was performed after the administration of contrast material – see the image.

acoustic neuroma
acoustic neuroma

 

What hereditary condition is associated with this presentation?





Explanation

The answer is neurofibromatosis type 2.

Bilateral acoustic neuromas / vestibular schwannomas are a hallmark of neurofibromatosis type 2, which is caused by mutations in NF2 gene.

CT Images above – Axial (A) and coronal (B) enhanced T1-weighted MR images demonstrating bilateral solid masses in the cerebellopontine angles, compressing the pons and the 4th ventricle. In addition, a right parafalcine meningioma is seen.

References

  1. Spilberg G, Marchiori E, Gasparetto EL, Cabral RF, Takayassu TC, Batista RR, Vieira IG. Magnetic resonance findings of neurofibromatosis type 2: a case report. Cases journal. 2009 Dec;2(1):6720.