Neurofibromatosis最新文献

Cardiac abnormalities are potentially important features of neurofibromatosis (NF), but they are rarely discussed in this regard. Several literature reviews have suggested that congenital heart defects (CHD) occur with increased frequency in NF, and several isolated case reports have described hypertrophic cardiomyopathy (HCM) with NF. However, it is not clear whether the occurrence of CHD and HCM in patients with NF is coincidental or representative of an intrinsic, albeit uncommon, manifestation of the disorder. Adequate prospective studies documenting their true prevalence in NF are lacking. As an alternative, we reviewed the available relevant literature and, on that basis, have concluded that there is no clear evidence that CHD occurs with increased frequency among patients with NF, and that no statements can be made about the prevalence of HCM among patients with NF.

This paper reviews optic pathway gliomas in terms of their incidence, gross pathologic features, microscopic features, biological behavior, malignant forms and association with neurofibromatosis.

The growth-stimulating activity of sera from 10 patients with von Recklinghausen neurofibromatosis (NF-1) was compared with that of sera from 10 age- and sex-matched healthy donors. Cell cultures derived from peripheral neurofibromas and from skin biopsies of healthy persons were used as indicator cells. Stimulation of 3H-thymidine incorporation increased with the clotting time of the blood samples, reaching a plateau at about 35 h with no decline of activity during the following 48 h. There was no difference between the stimulating activity of sera from the NF-1 patients and that of sera from the healthy donors with either type of indicator cells. This held true when the indicator cells were stimulated during the exponential growth phase or when serum-starved confluent cells were exposed to the various sera. Three NF-1 strains used as indicator cells during this investigation showed a significantly less vigorous response to both types of human sera and to fetal calf serum than the respective control strains. All human sera collected after 42 h clotting time were superior to fetal calf serum with both types of indicator cells.

Macrocrania (i.e., macrocephaly) is a common manifestation of von Recklinghausen neurofibromatosis (NF-1), occurring in approximately 30% of patients with this disorder. Megalencephaly is the usual basis for NF-1-associated macrocrania, although obstructive hydrocephalus secondary to a brain tumor or cranial vault dysplasia may occur. We describe 2 patients with NF-1 and aqueductal stenosis documented by CT scan. The incidence of aqueductal stenosis among our patients with NF-1 is 1%.

Segmental neurofibromatosis (NF) is characterized by the strictly unilateral occurrence of features that are typical of the more ordinary forms of NF (i.e., NF-1, NF-2), including schwannomas, cutaneous or plexiform neurofibromas, and/or café au lait spots. That is, these features are found in only one or several dermal segments. We describe a case of a 68-year-old woman affected by neurofibromas restricted to the right lumbar region. After extensive investigations, including magnetic resonance imaging, we could rule out the presence of additional, more widespread lesions. Previous reports of segmental NF are reviewed.

A variety of vascular changes has been associated with neurofibromatosis, and morphological alterations of arteries have been described previously. However, little attention has been paid to structural modifications of the microvasculature in neurofibromas themselves. Small vessels of 10 cutaneous neurofibromas, excised from patients with neurofibromatosis, were studied by using transmission electron microscopy and compared with normal skin vessels. The major alterations were: (1) increased thickness of the cytoplasm of endothelial cells which send numerous long processes to the lumen and, in some instances, obliterate it; (2) larger numbers of endothelial cell processes on the abluminal surface which are apposed to pericyte processes; (3) increased amounts of filaments and free ribosomes in the cytoplasm of endothelial cells, and (4) abundant pericytes with bundles of cytoplasmic filaments and many small subplasmalemmal densities. Mitotic figures were not seen in any of the vascular elements. These changes were interpreted to be the result of a generalized malformative process of blood vessels in neurofibromas rather than a consequence of the action of a tumor angiogenesis factor.

As neurofibromatosis receives increasing amounts of attention in both clinical and research terms, there is an even greater need to organize comprehensive neurofibromatosis programs that will capitalize on the advances being made. Based on the experience of the Baylor NF Program, a model for establishing and operating comprehensive neurofibromatosis programs is presented and discussed.

For selected years in the time span of 1876 through 1981, mean average paternal ages are itemized and the methods for the calculation of these figures are illustrated. For this time period, mean average paternal ages dropped from a high of 36.9 years to 28.5 years in 1981. This change was accounted for by an absolute and relative decrease in the number of births to older fathers and by an absolute and relative increase in births to younger fathers.