Type 1 Neurofibromatosis

Type 1 Neurofibromatosis

Neurofibromatosis Type 1 is characterized by multiple Schwannomas. Meningiomas and ependymomas (NOT neurofibromas). Neurofibromatosis Type 1 is due to mutations in Merlin gene 22q – autosomal dominant. To diagnose Neurofibromatosis Type 1, you need one or more of the following: bilateral cranial nerve 7 masses on imaging, first degree relative with NF2 and either one cranial nerve 7 mass or 2 or more of: Schwannoma, neurofibroma, meningioma, glioma or juvenile cataracts.

Neurofibromatosis Type 1 tumors look the same as those in non-NF2 patients, but occur in younger age, and the most common cause of morbidity is hearing loss.

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