title: Neurofibromatosis type 2 (NF 2) or schwannomatosis?--Case report study and diagnostic criteria.
abstract: BACKGROUND
  Neurofibromatosis type 2 (NF2) and schwannomatosis are entities that may, due to the similarity of clinical symptoms, cause diagnostic difficulties. Incidence rate of both diseases is similar and estimated between 1:25,000 and 1:40,000. The genes associated with the development of the aforementioned disorders are located on chromosome 22 and lay in proxmity. Schwannomatosis is characterized by an incomplete penetrance and the risk of its transmission to the offspring is significantly lower than in the case of NF 2. Schwannomatosis clinical characteristic is similar to the NF2, however vestibular schwannomas are not present. Therefore the imaging studies evaluated by an experienced radiologist play a key role in the diagnostic process.
  
  
  METHODS
  Forty two-year-old female hospitalized three times because of the tumors of the spinal canal was admitted to the Department of Neurosurgery and Peripheral Nerve Surgery in 2008 because of the cervical pain syndrome with concomitant headache. She was diagnosed with a schwannomatosis, recently distinguished, the third form of neurofibromatosis. MRI imaging revealed craniocervical junction tumor. Suboccipital craniectomy with concomitant C1-C2 laminectomy was done in order to remove the lesion. After the surgery the patient did not present any deficits in neurological examination and was discharged from hospital in good general condition.
  
  
  CONCLUSIONS
  The patient was diagnosed with schwannomatosis, recently established neurofibromatosis entity which may resemble NF2 clinically. In patients after the age of 30, in whom we observe multiple schwannomas without the concomitant hearing impairment, the diagnosis of schwannomatosis is very likely.
authors.affiliation: Department of Neurosurgery and Peripheral Nerve Surgery, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Radek
authors.affiliation: Department of Neurosurgery and Peripheral Nerve Surgery, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland.
authors.forename: Bartłomiej
authors.initials: B
authors.lastname: Tomasik
authors.affiliation: Department of Neurosurgery and Peripheral Nerve Surgery, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Wojdyn
authors.affiliation: Department of Clinical Pathomorphology and Cytopathology, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Snopkowska-Wiaderna
authors.affiliation: Department of Neurosurgery and Peripheral Nerve Surgery, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland. Electronic address: maciej.blaszczyk88@gmail.com.
authors.forename: Maciej
authors.initials: M
authors.lastname: Błaszczyk
authors.affiliation: Department of Neurosurgery and Peripheral Nerve Surgery, Medical University of Łódź, University Hospital WAM-CSW, Łódź, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Radek
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009442:Neurilemmoma / Q000175:diagnosis* / Q000601:surgery; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000601:surgery; D016518:Neurofibromatosis 2 / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000601:surgery
keywords: Craniocervical junction tumor; Neurofibromatosis; Schwannoma; Schwannomatosis