Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis)

Abstract

The neurofibromatoses comprise at least two autosomal dominant disorders affecting an estimated 100,000 Americans with clinical manifestations that may require care from every type of clinician. Neurofibromatosis 1 and neurofibromatosis 2 have in common the occurrence of many neurofibromas but are distinctly different clinical disorders. The disease genes are on different chromosomes. Magnetic resonance imaging, particularly with gadolinium enhancement, has generally supplanted other techniques for visualizing brain, spinal, and other neural tumors in both disorders. The technique has rekindled the controversy over the nature and frequency of optic pathway tumors in patients with neurofibromatosis 1 and has revealed, throughout the brains of young patients, bright lesions that have uncertain clinical consequences and unknown pathologic bases. In patients with neurofibromatosis 2, small acoustic neuromas can be seen, leading to the possibility of excision with preservation of hearing and facial nerve function. Abnormal hearing may occur to excess in patients with neurofibromatosis 1, but acoustic neuroma has never been documented. In patients with neurofibromatosis 2, a battery of audiologic tests has a high positive predictive power. Lisch nodules or iris hamartomas, probably a universal sign in adults with the neurofibromatosis 1 gene, cause no problem with vision. Posterior capsular lens opacity in patients with neurofibromatosis 2 is a helpful diagnostic sign and a potential source of additional handicap in persons at risk for impaired hearing. Progress in the clinical delineation of the disorders has been matched with considerable research into the still obscure pathogenesis of the disorders. Such rapid advances may necessitate reconsideration of the conclusions of the National Institutes of Health Consensus Development Conference on Neurofibromatosis, especially those on the categories of persons in which a neurofibromatosis should be considered and the need for caution in recommending surgery. Watchful waiting may often be the best management for acoustic neuromas in neurofibromatosis 2.

Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome

“…All patients had NF1 on the basis of clinical criteria established by the National Institute of Health, 5,6 and the diagnosis of OFNF was confirmed histologically in all surgical cases. 1,3 Pathological specimens ranged from small tissue biopsy sample obtained at the time of ptosis correction to bulky tumours up to 25 cm in aggregate.…”

Reduced expression of neurofibromin in human meningiomas

“…5400). The NF2 patient, a 25-year-old woman, participating in this study met the criteria agreed upon in a consensus conference at the National Institutes of Health (Mulvihill et al, 1990). She presented with bilateral vestibular schwannomas and multiple intracranial meningiomas.…”

“…Neurofibromatosis type 1 (NFl) and neurofibromatosis type 2 (NF2) are the two most clearly defined diseases among neurofibromatoses (Mulvihill et al, 1990). The incidence and clinical expressions of NFl and NF2 are quite different.…”

Neurofibromatosis, stroke and basilar impression: case report

“…Aceite: 9-fevereiro-1999. 2 . NF1 can affect virtually any organ, but it most frequently presents with "cafe au lait" spots and neurofibromas 1,2 .…”

“…2 . NF1 can affect virtually any organ, but it most frequently presents with "cafe au lait" spots and neurofibromas 1,2 . Vasculopathy is a known complication of NF1, being aortic, celiac, mesenteric, and renal artery involvement most frequently described 3 .…”