Disease Information for Bilateral Acoustic Neurofibromatosis (NF2)

Clinical Manifestations
Signs & Symptoms
Cranial nerve abnormalities/involvement/signs
Facial Nerve Palsy/Facial Paralysis
Facial weakness/droop, unilateral
Unable to tandem walk/straight line
Nerve deafness, recent onset
Acute Hearing Loss
Head Movement Vertigo
Hearing loss
Hearing problems
Hypesthesia/posterior ear canal (Hitselberger) sign
Pulsatile tinnitus
Referred ear Pain Otalgia
Sound distortion
Sudden deafness
True Vertigo Sign Confirmed
Unilateral sudden deafness
Vertigo in Children
Vertigo in Elderly
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Family History
Family history/Pheochromocytoma
Family history/Neurofibromatosis
Laboratory Tests
Abnormal Lab Findings (Non Measured)
CSF abnormal
CSF Protein increased/cells absent
Diagnostic Test Results
Other Tests & Procedures
Lumbar puncture/abnormal
TEST/Audiometrics/Tone decay
TEST/Caloric/nystagmus/challenge abnormal
TEST/Canal paresis/Barany test/abnormal
EEG/Auditory evoked potential/unilateral failure
CT Scan
CT Scan/Head Brain Multiple mass lesions
CT Scan/Mass in the middle fossa/Head
CT Scan/Mass, cerebellopontine angle/Head
MRI/Head Brain Abnormal
MRI/Head Scan Abnormal
MRI/Spinal/back abnormal
CT Scan/Acoustic Cochlear Abnormalities
MRI/Acoustic high resolution/cochlea abnormal
Xray/Auditory meatus widened or eroded/Skull
Xray/Petrous ridge or apex erosion/Head
Xray/Destructive mass in middle ear/Head
Associated Diseases & Rule outs
Rule Outs
Meniere's disease
Associated Disease & Complications
Acoustic neuroma
Bells palsy/Facial nerve paralysis
Bilateral Acoustic Neuroma syndrome
Brain tumor
Deafness, sensorineural
Facial nerve palsy/secondary
Primary Brain Neoplasm
Facial Paralysis
Deafness Acquired
Disease Mechanism & Classification
CLASS/Brain/CNS disorder (ex)
CLASS/Eighth (auditory) nerve involvement
CLASS/Neurologic (category)
CLASS/Ears/accessory (category)
Pathophysiology/Gene locus 22q12
Pathophysiology/Gene locus 22q12.2
Pathophysiology/Gene locus chromosome 22
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Peripheral Vertigo
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Mutation NF-2 Gene
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Neoplastic (category)
PROCESS/Primary intracranial tumor (ex)
Neuroma Acoustic Bilateral, Synonym/Acoustic neurinoma, Synonym/Acoustic neurofibroma, Synonym/Perineural fibroblastoma
Other Treatments
TX/Genetic counselling

Neurofibromatosis Type 2 (NF-2); Bilateral Acoustic Neurofibromatosis; Central Form, Neurofibromatosis; NF-2; Vestibular Schwannoma Neurofibromatosis; Neurofibromatosis Type 2 (NF-2) is a rare genetic disorder that is primarily characterized by benign (noncancerous) tumors of the nerves that transmit sound impulses from the inner ears to the brain (bilateral acoustic neuromas vestibular schwannomas); Associated symptoms and findings may become evident during childhood, adolescence, or early adulthood; Depending on the exact location and size of the acoustic neuromas/vestibular schwannomas, such findings may include disturbances of balance and walking (gait); dizziness; headache; facial weakness, numbness, or pain; ringing in the ears (tinnitus); and/or progressive hearing loss; In some individuals with NF-2, additional abnormalities may also be present; These may include loss of transparency of the lenses of the eyes (juvenile posterior subcapsular opacities), progressive visual impairment, or an increased risk of developing certain tumors of the brain and spinal cord (central nervous system); NF-2 results from changes (mutations) of a gene on the long arm (q) of chromosome 22 (22q12-2); The NF-2 gene regulates the production of a protein that functions as a tumor suppressor; In some individuals with NF-2, the disorder is caused by new (sporadic) mutations of the gene that occur for unknown reasons; In other affected individuals, NF-2 is inherited as an autosomal dominant trait; The term "Neurofibromatosis" is sometimes also used to describe a second, distinct form of NF known as Neurofibromatosis Type I (NF-1); More common than NF-2, NF-1 is primarily characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin, such as pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk or other regions; In contrast, in individuals with NF-2, benign fibrous tumors of the skin (cutaneous neurofibromas) and areas of abnormal pigmentation are considered relatively rare; As with NF-2, NF-1 may be inherited as an autosomal dominant trait or appear to occur randomly due to new (sporadic) genetic changes; [NORD]


External Links Related to Bilateral Acoustic Neurofibromatosis (NF2)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)