A case presentation of five subjects diagnosed with NF type II
| Abstract Title: | A case presentation of five subjects diagnosed with NF type II |
| Authors: | Sanda Maria Deme1, Cătălin Dragoş Jianu2, Ştefania Kory Calomfirescu3, Pavel Dan Nanu1 |
| Affiliation: | 1 Neurology Department, Faculty of Medicine, Pharmacy and Dental Medicine, “Vasile Goldis” Western University Arad, Romania 2 “Victor Babes” University of Medicine and Pharmacy, Timisoara, Romania 3 “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj Napoca, Romania |
| Abstract text: | Introduction: Neurofibromatosis type II (NF type II) is an inherited disease of the chromosome 22. The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the brain. Most people with this condition also experience problems in their eyes. NF II is caused by mutations of the “Merlin” gene, which, it seems, influences the form and movement of cells. The incidence of the disease is about 1 in 40.000. Purpose: To find out the most common clinical picture in NF type II subjects. Materials and methods: There were included 5 cases with NF type II that addressed the Arad Neurological Clinic for several neurological symptoms. Results: The average age of the subjects was 22.3+/-2.2years. The subjects mainly addressed the ENT services for a common complaint of loss of hearing, tinnitus, balance disturbances, while there was diagnosed a bilateral decrease in auditive sensations. In one subject the main complaint was that he had to change the ear usually used in telephone conversations. After the MRI exam in all subjects we found bilateral acoustic neuromas, in 2 cases there was also present a posterior fossa meningioma and in 1 case a juvenile cataract. Other symptoms: headache, vomiting, mostly in posterior fossa meningioma. Discussions: The clinical spectrum of the disease is broad. The neurological symptoms are frequently misinterpreted and this diagnose is omitted by the clinicians unless well trained. The principal treatments consist of neurosurgical removal of the tumors. Conclusion: Hence the clinical manifestations of NF type II are broad and the NF type II is frequent in young adults complaining of hearing loss, this disease should be suspected in all these cases that should be properly investigated and quickly diagnosed as surgical treatment offers a good improvement in the clinical course. |
| Keywords: | neurofibromatosis type II, auditory loss, bilateral acoustic neuroma |
| Presentation type: | Poster |
| Correspondence: | Neurology Clinic, no. 1-3 Spitalului Sq., Arad, Romania |
| Email: | sandademe@yahoo.com |
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