Neurofibromatosis 2: two case reports

Our study presents two cases of neurofibromatosis 2 (NF2) that have been diagnosed at the Ear, Nose, and Throat Department of Hradec Králové (Czech Republic). The first case involved a young man with a history of sudden hearing loss accompanied by tinnitus on the left side. The diagnosis of NF2 was made, and an operation for left acoustic neuroma was performed. Looking toward the future, the acoustic neuroma on the right side should be resolved as well. The second case concerned a woman (the mother of our patient 1) examined at the same Ear, Nose, and Throat Department in 1980, after 4 years of gait instability and progressive loss of hearing and tinnitus on the right side. Computed tomography scan detected a bilateral expansion in the pontocerebellar angles, and a large tumor on the right side was removed. The patient is deaf and has facial palsy without progression of symptomatology during long-term follow-up. These two cases document the rare but serious hereditary disease of NF2. Its most frequent first presentation is acoustic neuroma; further, benign tumors of the nervous system and juvenile cortical cataract also are often detected. The variability of number, location, and biological behavior of tumors associated with NF2 require an individual patient treatment approach, long-term follow-up, and insertion of appropriate hearing aids. Important also is a genetic examination to exclude pathological NF2 genes in the first-degree relatives of the affected individuals.