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Neurofibromatosis (NF) - Type 2

Name of disease:

Neurofibromatosis (NF) - Type 2

ICD-10 diagnosis code:

Q85.02

Causes:

Cases of neurofibromatosis type 2 (NF2) are sporadic, which means they occur in people with no history of the disorder in their family. It is caused by the mutation in NF2 gene on chromosome 22.

Mode of inheritance:

Neurofibromatosis Type 2 cases can be sporadic or are inherited from parents in autosomal dominant pattern.

Prevalence:

1/ 60,000

Diagnosis:

The diagnosis of NF1 is mainly based on clinical findings and specialized testing including CT scan and MRI. Molecular genetic testing for mutations in NF2 gene can be used for diagnosis before the onset of symptoms for individuals with positive family history.

Age of onset:

Young adult

Common signs and symptoms:

Gradual hearing loss Ringing in ears Headache Numbness and weakness in the arms and legs Balance difficulties Facial drop Vision problems or the development of cataracts

Available treatments (medicinal and non-medicinal):

Surgery and radiation therapy may help remove patients’ tumors. Drug is also available to treat rapidly growing tumors but is very expensive.

Disease management tips:

The management of NF2 requires an experienced, multidisciplinary approach including neurosurgeon, audiologist and geneticist Patients with NF2 mutation shall receive annual history and physical examination including hearing and eye examination as well as annual MRI check-up. Earlier diagnosis and treatment improved the survival of patients. Surgical removal of tumors can have a risk of damaging the facial nerve and affect the blink reflex and tearing.Hearing impairment in patients is associated with decreased quality of life and risk of social isolation. Cochlear implant shall be considered to reduce the impact of hearing impairment.

References:

https://rarediseases.org/rare-diseases/neurofibromatosis-2/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708144/

Other useful websites:

Patient groups: Hong Kong Neurofibromatosis Associationhttps://hknfa.org.hk Neurofibromatosis Networkhttps://www.nfnetwork.org/pages-world-resources/hong-kong-neurofibromatosis-association/