Neurofibromatosis最新文献

We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.

We determined the frequency of brain tumors in a series of 133 children (18 years of age or younger) with von Recklinghausen neurofibromatosis who were patients at the Children's Hospital of Zurich from 1971 to 1987. Twenty-four patients (18%) were found to have intraorbital or intracranial tumors. Twenty patients (15%) had an optic-pathway glioma (OPG), including 15 (11%) with only an OPG and 5 (4%) with both an OPG and a tumor in the posterior fossa or brainstem. Another 4 patients (3%) had a tumor outside of the optic pathways. In most cases, magnetic resonance imaging was superior to computerized tomography in demonstrating these lesions. The results of this survey are comparable to those of other published reports.

The optic gliomas of 29 patients, including 14 with von Recklinghausen neurofibromatosis (NF-1), were subjected to X-ray therapy. The data indicate a projected 20-year survival rate of 92% for all 29 patients. Moreover, among the NF-1 patients, 86% were stabilized or improved, while among non-NF-1 patients, only 47% stabilized or were improved. Thus, these data suggest that there are differences in the biophysiological behavior of optic nerve gliomas in patients with NF-1, and, as well, that there is a salutary response to radiation treatment as measured by improvement or stabilization of vision, with and without radiologic evidence of concomitant tumor regression.

Patients who appear to warrant the diagnosis of neurofibromatosis in some sense, but who do not meet the current inclusive criteria for von Recklinghausen disease (NF-1) are uncommon, but not rare. This report describes the clinical findings of 7 such cases and compares them to 32 other cases from the literature.

Optic nerve gliomas occur in 5-15% of patients with neurofibromatosis; while many tumors are asymptomatic and stable, others cause significant morbidity and mortality. The availability of modern, noninvasive diagnostic modalities allows earlier diagnosis of this tumor, and even permits close observation as an alternative to therapeutic intervention in selected circumstances. Anterior tumors are best treated by observation, followed by surgical excision and radiation therapy if they enlarge and cause significant visual impairment. Posterior tumors are best treated by diagnostic biopsy and possible debulking, followed by radiation therapy. While chemotherapy appears a promising alternative to radiation therapy, insufficient experience has been obtained to draw any firm conclusions on the merit of this modality.

The Vereniging Ziekte Van von Recklinghausen Nederland (VZRN) is a lay organization in The Netherlands dedicated to the dissemination of neurofibromatosis-related information to patients and their families, medical professionals, and the community at large. In 1985, a survey of the membership of the VZRN was conducted. This report presents the results of that survey.

With the advent of noninvasive neuroimaging of the orbits and brain, many asymptomatic patients with intraorbital optic gliomas have been identified. These children, predominantly with neurofibromatosis, present a therapeutic quandary to the treating physician. There is no consensus regarding either the natural history of intraorbital optic gliomas or the approach treatment. This paper reviews the literature on the treatment of 227 children with intraorbital optic gliomas with surgery, radiation or 'watchful waiting'. Based on this review, an approach to the management of children with intraorbital optic gliomas with and without neurofibromatosis is suggested.

Intestinal neurofibromatosis without other manifestations of von Recklinghausen's neurofibromatosis was found in a multigeneration family. Neurofibromas were strictly limited to the intestine. Onset of symptoms was delayed until adulthood and some gene carriers remained asymptomatic into their middle or late adult years. One other family with intestinal neurofibromatosis has been described in 1966. No symptomatic male is yet known, although an asymptomatic male in our family is an obligate gene carrier. The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients. No male-to-male transmission has been recorded to rule out X linkage. Intestinal neurofibromatosis presents as a distinctive dominant phenotype with an increased risk of intestinal problems including bleeding, intussusception and obstruction.