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PubMed2006

Persistent respiratory symptom can be a manifestation of neurofibromatosis-1.

A 3-year old boy with neurofibromatosis-1 presented with persistent respiratory symptoms and X-ray changes. High resolution computerised tomography (CT), bronchoscopy and spiral CT showed a mediastinal mass encasing and compressing the left main stem bronchus. Surgical removal and histology of the mass revealed a neurofibroma. Repeat scan six months post-surgery showed some persistence of the mass. Symptomatic, mediastinal neurofibroma in the paediatric age group is very rare. We could not find any previous report of a neurofibroma encasing the mediastinal structures. This case also demonstrates that persistent respiratory symptom in a patient with neurofibromatosis-1 warrants a search for intra-thoracic neurofibroma.

Humans↗
PubMed1995

Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle.

Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries. This is illustrated by a woman recently evaluated in our Neurofibromatosis Program who had multiple cerebrovascular and renovascular abnormalities. To determine the contribution of NF1 expression to NF1 vasculopathy, the expression of the NF1 gene product, neurofibromin, was examined in blood vessels. Neurofibromin was detected in the endothelial cell layer of rat cerebral vessels, renal arteries, and aorta by immunohistochemistry. Cultured bovine cerebral endothelial cells were found to express NF1 mRNA by RT-PCR and neurofibromin by Western immunoblotting and immunocytochemistry. Neurofibromin expression was also detected in the smooth muscle layer of the aorta but not of cerebral or renal vessels. The vascular abnormalities of NF1 are reviewed and possible pathogenesis with respect to neurofibromin expression is discussed.

Adult↗
PubMed1998

Isolation and characterization of Schwann cells from neurofibromatosis type 2 patients.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disease of the nervous system characterized by multiple schwannomas. The NF2 gene product, termed schwannomin or merlin, was hypothesized to function as a cytoskeleton-membrane linking protein due to homology to members of the protein 4.1 superfamily and to function as a tumor suppressor. We isolated and characterized pure Schwann cell cultures from schwannomas derived from neurofibromatosis 2 patients with identified germline mutations and loss of heterozygosity. We describe striking differences between NF2 and control Schwann cells in morphology, cell-cell contacts, and growth. NF2 Schwann cells form multiple long processes with filopodial and lamellopodial extensions. NF2 Schwann cells lack contact inhibition, grow in multiple layers, and show a higher proliferation rate than control cells. For the first time Schwann cells derived from patients with the NF2 genotype were cultured and characterized in vitro. These cultures are highly valuable for investigating the effects of NF2 mutations and the development of therapies.

Cell Division↗
PubMed1994

Infantile spasms in patients with neurofibromatosis type 1.

The authors report two patients with neurofibromatosis type 1 who were affected by infantile spasms. The infantile spasms were severe and unresponsive to anticonvulsant treatment. The authors maintain that infantile spasms may belong to the clinical features of neurofibromatosis type 1.

Cerebral Ventricles↗
PubMed1995

Familial neurofibromatosis 1 with germinoma involving the basal ganglion and thalamus.

Intracranial germinoma associated with neurofibromatosis 1 (NF-1) has never been documented previously. We report a case of familial NF-1 with a germinoma involving the right basal ganglion and thalamus. A 12-year-old boy presented with multiple café-au-lait spots and a family history of neurofibromatosis in his mother, one of two siblings, and his maternal grandfather. His intracranial lesion was subtotally resected. Histologically, it was a pure germinoma. Serum alpha-feto protein and beta-human chorionic gonadotropin levels were within the normal range. Postoperative myelographic examination and cerebrospinal fluid cytology study showed no evidence of subarachnoid seeding. The patient received postoperative combination chemotherapy resulting in complete response and clearance of the residual tumor. Although this finding of an intracranial germinoma in a patient with familial NF-1 may be coincident, it is suggestive of a potential genetic predisposition. Longitudinal evaluation for the possibility of neoplasm, especially germ cell tumor, in basal ganglion lesions in NF-1 patients is necessary.

Basal Ganglia↗
PubMed1996

Cerebro-vasculopathy and malignancy: catastrophic complications of radiotherapy for optic nerve glioma in a von Recklinghausen neurofibromatosis patient.

The authors report a unique case of a patient with intraorbital optic nerve glioma and von Recklinghausen neurofibromatosis who developed cerebro-vasculopathy and malignant transformation in the orbit 18 months after radiotherapy treatment. The case is an important reminder of the possibly increased susceptibility of von Recklinghausen neurofibromatosis patients to the complications of radiotherapy.

Brain↗
PubMed1984

Neurofibromatosis tumor and skin cells in culture. II. Structural proteins with special reference to the cytoskeletal and cell surface components.

Structural proteins of cultured neurofibromatosis (NF) tumor and skin cells were studied with reference to control skin fibroblasts. In polyacrylamide gel electrophoresis (PAGE)/fluorography the banding patterns of the cell lysates were markedly similar. NF tumor cells, however, produced a 60 kD band with a stronger and a 48 kD band with a lighter protein staining and metabolic labeling intensity. Furthermore, skin cells were also characterized by a 26 kD protein and the tumor cells by a 22 kD protein with high metabolic labeling intensity. Neuraminidase/galactose oxidase/NaB3H4-labeled NF skin and control skin cells possessed a 220 kD protein that was less intensively labeled in the tumor cells. The banding pattern of the skin cells was also characterized by a protein with slightly lower molecular weight (86 kD) than that of the tumor cell lysates (90 kD). In all cell lines studied indirect immunofluorescence stainings revealed bright arrays of vimentin type intermediary filaments but no desmin, cytokeratin, glial fibrillary acidic protein (GFAP), or neurofilament proteins. NF skin and control skin cells possessed well developed actin-containing bundles of microfilaments, while those of the tumor cells lacked a typical stress-fiber organization. The general morphology of the tumor cell cultures was also irregular. Transmission electron microscopy revealed no basic differences in the structure of intermediary filaments or microfilaments. The present data provide basic knowledge of neurofibromatosis skin and tumor cells and demonstrate that cultured cells originating from neurofibromas are defective in both their intracellular and extracellular organization.

Actins↗
PubMed1983

Neurofibromatosis tumor and skin cells in culture.

Skin fibroblasts and tumor cells were cultured from four patients with peripheral von Recklinghausen's neurofibromatosis (NF). The cell type enriched in culture from the tumors carried the fibroblastic Thy 1.1. cell surface antigen and produced fibronectin, like fibroblasts from skin of NF-patients or from control persons. In electron micrographs the NF tumor and NF skin cells were similar to the control skin fibroblasts; elongated in shape, contained tubular mitochondria, variable amounts of granular endoplasmic reticulum, numerous lysosomal inclusion bodies and collections of 5 nm filaments. Trypsinized cells were fractionated with centrifugation in a Percoll density gradient. All cell lines produced only one sharp band of viable cells at the buoyant density of 1.03. Compared with the NF skin or control skin fibroblasts the NF tumor cells, however, produced a less well organized peri- and extracellular matrix estimated from fibronectin fluorescence. The nuclear sizes were measured from photographs of the cultures. The nuclei of all four tumor cell lines were larger than those of the skin fibroblasts of the corresponding patients. Neurofibromatosis tumor cells thus resemble skin fibroblasts in their density and in some ultrastructural properties but are different in their growth pattern and synthetic functions.

Adult↗
PubMed1998

Aneurysm of the major vessels in neurofibromatosis.

The case of a patient who presented with a ruptured aneurysm of the brachial artery and type I neurofibromatosis is presented. Angiography revealed a ruptured aneurysm of the brachial artery in the middle of the upper arm. Repair of the artery with autogenous vein grafting was impossible due to the extremely brittle brachial artery and accompanying veins. The blood supply distal to the aneurysm was secured by collaterals, and the aneurysm, including a relatively long portion of the brachial artery and veins adjacent to the aneurysm, was resected. The patient died of massive hemorrhage from the subclavian artery of the involved side 9 days postoperatively. Histological and immunohistological examinations of the tissues involved in the ruptured aneurysm were conducted. The resected brachial artery and veins were surrounded by hypertrophied tissue which tested positive for S-100 protein and negative for desmin and action. These findings suggest that the origin of the proliferating tissue was not mesodermal dysplasia, but neurofibroma occurring near or in the vessels. A ruptured aneurysm in a patient with neurofibromatosis should not be treated with reconstruction of the vessels. The treatment of choice is surgical or endovascular occlusion of the vessels involved.

Adult↗
PubMed1984

Neurogenic sarcomas in patients with neurofibromatosis (von Recklinghausen's disease). Light, electron microscopy and immunohistochemistry study.

Thirteen soft tissue neurogenic sarcomas from twelve patients with neurofibromatosis (Von Recklinghausen's disease) were ultrastructurally examined. Electron microscopic studies revealed a wide spectrum of morphological manifestations varying from schwannian to fibroblastic, histiocytic, fibrohistiocytic and relatively undifferentiated cellular proliferations. A similar variation on light microscopic appearances has been previously reported in these neurogenic sarcomas. Neurogenic sarcomas occurring in patients with neurofibromatosis (Von Recklinghausen's disease), represent a heterogeneous group of neoplasms with various patterns of differentiation identified ultrastructurally. The morphologic expressions of these neurogenic neoplasms can be conceptualized as a disorderly growth of the various peripheral nerve cellular components, or, as has been previously suggested, as a result of the multipotential nature and metaplastic ability of Schwann cells. S-100 protein immunohistochemistry was only positive in those neoplasms ultrastructurally proven to represent schwannian cellular proliferations. This study serves to document the range of fine structure that may be found in neurogenic sarcomas, to correlate the ultrastructural findings with the light microscopic appearance of these tumors, to determine the specificity of the electron microscopic findings, and immunohistochemistry for S-100 protein and assess their possible value in differential diagnosis.

Adult↗
PubMed1989

Neurofibromatosis with spinal paralysis due to arteriovenous fistula.

A case of neurofibromatosis with spinal paralysis due to arteriovenous fistula is reported. Preoperatively, the appropriate diagnosis was missed because angiography had not been performed. Postoperative angiography disclosed that an arteriovenous fistula formed a tumor-like mass, and that a part of the mass had invaded the spinal canal, compressing the spinal cord. It is concluded that the possibility of an arteriovenous fistula should be kept in mind in neurofibromatosis patients with spinal cord symptoms.

Adult↗
PubMed1995

Lack of NF1 expression in a sporadic schwannoma from a patient without neurofibromatosis.

The neurofibromatosis type 1 (NF1) gene encodes a tumor suppressor protein, neurofibromin, which is expressed at high levels in Schwann cells and other adult tissues. Loss of NF1 expression has been reported in Schwann cell tumors (neurofibrosarcomas) from patients with NF1 and its loss is associated with increased proliferation of these cells. In this report, we describe downregulation of NF1 expression in a single spinal schwannoma from an individual without clinical features of neurofibromatosis type 1 or 2. Barely detectable expression of NF1 RNA was found in this tumor by in situ hybridization using an NF1-specific riboprobe as well as by Northern blot and reverse-transcribed (RT)-PCR analysis. In Schwann cells cultured from this schwannoma, abundant expression of NF1 RNA could be detected by Northern blot and RT-PCR analysis. These results suggest that, in some tumors, expression of NF1 may be downregulated by factors produced within the tumor and may represent a novel mechanism for inactivating these growth suppressing genes and allowing for increased cell proliferation in tumors.

Adult↗
PubMed1996

Laryngeal involvement in pediatric neurofibromatosis: a case report and review of the literature.

A case of neurofibroma of the larynx occurring in generalized neurofibromatosis (von Recklinghausen's disease) is presented, and the previously reported pediatric cases are reviewed. Laryngeal involvement in neurofibromatosis is rare and the predominant signs and symptoms include dyspnea, stridor, loss or change of voice and dysphagia. Problems posed related to diagnosis, management and course of this infrequent laryngeal localization are discussed.

Child, Preschool↗
PubMed1994

Facial nerve reconstruction in neurofibromatosis 2.

Between 1979 and 1989, 13 patients with neurofibromatosis 2 underwent reconstructions of the facial nerve after removal of bilateral acoustic or facial neurinomas. Seven patients received hypoglossal-facial nerve anastomosis, and five received sural nerve grafting in the cerebellopontine angle. End-to-end anastomosis and intracranial-intratemporal sural grafting were performed for one patient each, respectively. Re-innervation was seen in all cases. The results were good in 11 cases. Two patients presented with poor results due to development of neurinomas close to the site of the nerve reconstruction. The importance of reconstructive surgery in patients with neurofibromatosis is stressed. The problems regarding failure of re-innervation in some cases and difficulties in their management are discussed.

Adolescent↗
PubMed1987

The influence of magnetic resonance tomography on diagnosis and therapy in patients with intracranial manifestation of neurofibromatosis (Recklinghausen disease).

Recent research into the natural course of neurofibromatosis has revealed an outstandingly high proportion of central nervous system malignancies as well as cancers of various other organs. Due to the lack of ionizing radiation, the extraordinary reconstruction in the frontal and parasaggital planes as well as the diagnosis of intracanalicular acoustic neurinomas and intraorbital tumors, magnetic resonance tomography (MRT) is indicated for control of patients with neurofibromatosis.

Adolescent↗
PubMed1989

Favorable prognosis for brainstem gliomas in neurofibromatosis.

Over a two year interval, we have treated five children with neurofibromatosis who developed brainstem gliomas. They had an insidious onset of symptoms and other indicators of low grade tumor despite several features that have been ascribed to rapidly progressive brainstem gliomas. Following standard radiation therapy a more protracted improvement was observed with the persistence of preradiation findings for several months. This experience confirms the better prognosis in brainstem glioma associated with neurofibromatosis.

Adolescent↗