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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Hearing loss in neurofibromatosis type 1: report of two cases.

We report two cases of sixteen year old female patients with NF1 and hearing loss. One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI. Other investigations included pure tone audiograms, autoimmune inner ear disease (AIED) tests. The patient with slight manifestations of NFI had mild to moderate low frequency bilateral sensorineural hearing loss, which showed 20 dB improvement in hearing threshold with steroid treatment. On the other hand, the patient with severe manifestations of NFI disease had profound sensorineural hearing loss with vertiginous episodes. Hearing loss which is usually seen in patients with acoustic neuroma, neurofibromatosis type II, is also an important symptom in patients with neurofibromatosis type I.[1]


  1. Hearing loss in neurofibromatosis type 1: report of two cases. Shamboul, K., Grundfast, K. East African medical journal. (1999) [Pubmed]
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