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Familial Spinal Neurofibromatosis
FSNF

Presentation

Other items were coded as absent or present. Short stature was coded as present if the subject's height was 2 SDs or more below the age- and sex-matched population mean. [jamanetwork.com]

Presenting symptoms include the following: Hearing loss, ringing in the ears, and balance problems associated with vestibular nerve lesions Visual deficits Cranial nerve palsies See Clinical Presentation for more detail. [emedicine.medscape.com]

Localized pruritus: a presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis. J Am Acad Dermatol 2000; 43:958–961. CrossRef PubMed CAS Google Scholar Zeller J, Wechsler J, Revuz J, Wolkenstein P. [link.springer.com]

Bilateral growth, when present, is characteristic of NF1. [scielo.br]

Workup

Furthermore, diagnosis in childhood is often difficult because of the absence of central nervous system (CNS) involvement at a young age. [8] (See Prognosis, Clinical, and Workup.) [emedicine.medscape.com]

Treatment

Stereotactic radiotherapy for the treatment of acoustic neuromas. J Neurosurg. 2004 Nov. 101 Suppl 3:362-72. [QxMD MEDLINE Link]. Safavi-Abbasi S, Bambakidis NC, Zabramski JM, et al. [emedicine.medscape.com]

A cancerous tumor may be treated with cancer medications, radiation therapy, or a combination of treatments. [cancer.net]

Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. [scielo.br]

Optic gliomas are typically asymptomatic and do not require treatment unless they progressively increase in size. [msdmanuals.com]

Neurofibromatosis treatment focuses on encouraging healthy growth and development in children who are affected by the disorder and on early management of complications. [mayoclinic.org]

Prognosis

Prognosis The prognosis of neurofibromatosis type 2 (NF2) depends on a number of factors, including age of symptom onset, degree of hearing deficit, and number and location of various tumors. [emedicine.medscape.com]

The NF differ profoundly in age of first manifestations, symptoms, evolution and prognosis 11. Riccardi VM. Historical background and introduction. In: Friedman JM, Gutmann DH, MacCollin M, Riccardi VM (Eds). [scielo.br]

Etiology

[…] cerebral, cerebellar, or spinal cord lesions that may result in neurologic deficits, seizures, and/or hydrocephalus Peripheral nerve schwannomas, mixed tumors, and, occasionally, neurofibromas Peripheral neuropathies Visually significant juvenile cataracts Etiology [emedicine.medscape.com]

Epidemiology

Further clinical and epidemiological studies are necessary to confirm our data, but our investigations provide hope that some serious complications of NF1 can be predicted. 2. Gutmann DHAylsworth ACarey JC et al. [jamanetwork.com]

Epidemiology The estimated incidence of neurofibromatosis type 2 (NF2) is 1 in 37,000 per year, with about half of affected individuals representing first cases in the family as a result of new, dominant mutations. [emedicine.medscape.com]

Pathophysiology

Pathophysiology of neurofibromatosis type 1. Ann Intern Med. 2006 Jun 6;144(11):842-9. Review. Citation on PubMed Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006 Mar;13(1):2-7. Review. [medlineplus.gov]

Prevention

It has been shown as a promising and useful method, being the only one that prevents transmission of the mutated gene from one parent to their children 3232. Bonalumi Filho A, Darrigo Jr L, Oliveira L, Azulay D, Cunha K. [scielo.br]

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