A 20-year-old woman comes to the office due to hearing loss. The patient is a student and has difficulty hearing her professors, even when sitting in the front row. She also has trouble with balancing poses during yoga. The patient has no medical conditions and takes only oral contraceptives. She drinks alcohol on weekends and does not smoke. Her mother also developed hearing loss in her 20s. Ear examination is normal. Gait is normal, but standing on 1 foot is difficult, especially with closed eyes. Audiogram shows bilateral sensorineural hearing loss. Which of the following is the most likely cause of this patient's symptoms?

Question

A 20-year-old woman comes to the office due to hearing loss.  The patient is a student and has difficulty hearing her professors, even when sitting in the front row.  She also has trouble with balancing poses during yoga.  The patient has no medical conditions and takes only oral contraceptives.  She drinks alcohol on weekends and does not smoke.  Her mother also developed hearing loss in her 20s.  Ear examination is normal.  Gait is normal, but standing on 1 foot is difficult, especially with closed eyes.  Audiogram shows bilateral sensorineural hearing loss.  Which of the following is the most likely cause of this patient's symptoms?

Quizplus · Accepted Answer

11ec25c8_d5ba_0e32_bc81_57a4cb2560fe_MD0003_00 This young woman with bilateral sensorineural hearing loss associated with imbalance likely has bilateral vestibular schwannomas. This, in conjunction with her family history of hearing loss, is characteristic of neurofibromatosis type II (NF2). Vestibular schwannoma primarily affects the cochlear and vestibular nerves. Cochlear nerve involvement results in sensorineural hearing loss (~95% of patients). Vestibular nerve involvement can cause imbalance, particularly when patients are deprived of visual input (eg, eyes closed when standing on 1 foot, yoga poses). Most patients do not experience vertigo because the tumor's slow growth allows for central compensation of gradual loss of input. Sporadic vestibular schwannomas are typically unilateral and manifest around age 50. In contrast, the presence of bilateral, hereditary vestibular schwannomas in a young patient, as seen in this case, should raise suspicion for NF2. NF2 is caused by an autosomal dominant defect in merlin (a cell-membrane tumor-suppressor protein) and usually presents at age 20-30. Vestibular schwannomas are the most common tumor seen; however, patients also may have intracranial meningiomas, spinal tumors, or peripheral neuropathies. Cataracts and cutaneous tumors also can be seen. (Choice A) Jervell and Lange-Nielsen syndrome, a congenital long QT syndrome, also causes inheritable sensorineural hearing loss due to the associated mutations affecting endolymph production. In contrast to NF2, congenital long QT syndrome typically presents in childhood with profound bilateral deafness and episodes of arrhythmia-induced syncope during periods of stress. (Choice B) Mitochondrial disorders are maternally inherited and can present with diverse symptoms that may include hearing loss or imbalance. However, they typically involve multiple organ systems and myopathy is often present. (Choice C) Multiple sclerosis can present in young women and may have a hereditary component. In contrast to this patient with NF2, those with multiple sclerosis typically initially have optic neuritis, lateral rectus palsy, or multiple signs of cerebellar involvement (eg, ataxia, diplopia). Sensorineural hearing loss as an initial manifestation is uncommon. (Choice E) Otosclerosis causes fixation of the stapes, is often hereditary, and is most commonly seen in young women. However, it would present with a conductive, rather than a sensorineural, hearing loss. Educational objective: Vestibular schwannomas present with hearing loss and imbalance. Bilateral, hereditary schwannomas are most often associated with neurofibromatosis type II. References: An update on the CNS manifestations of neurofibromatosis type 2. (http://www.ncbi.nlm.nih.gov/pubmed/31161239)

A 20-Year-Old Woman Comes to the Office Due to Hearing