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.
Renal oncocytomas are uncommon, benign tumors that can be treated by local excision or heminephrectomy; their preoperative differentiation from renal cell carcinoma, treated by radical nephrectomy, would be invaluable. A particularly important finding, a central scar--not stressed in previous reports, is frequently demonstrated by CT examination. We evaluated radiographic studies of 18 pathologically confirmed cases of oncocytoma and compared findings with results of CT, sonography, and angiography studies of 18 renal cell carcinoma cases. Oncocytomas can be suggested if a stellate scar is identified within an otherwise homogenous tumor on ultrasound (US) and CT; if the mass appears homogeneous but no scar is present, angiography should be performed. An oncocytoma can be suggested in these cases if a spoke-wheel configuration and homogeneous blush are present. These criteria, which are reliable only if the mass is 3 cm or larger, would have resulted in the correct diagnosis of oncocytoma in 16/18 cases.
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