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PubMed2002

Primary duodenal adenocarcinoma associated with neurofibromatosis type 1.

It is well known that patients with neurofibromatosis have an increased incidence of various neoplasms, most of these being tumors of neural-crest origin, including neurofibromas, leiomyomas, ganglioneuromas, paragangliomas, and carcinoids. However, the occurrence of small-bowel adenocarcinoma is rare. In this article, we report a patient with small-bowel adenocarcinoma, the seventh such reported case. We include a review of the literature and a brief discussion of the implications of this association. We suggest that the association between small-bowel adenocarcinomas and neurofibromatosis may not be fortuitous, and that small-bowel adenocarcinoma should be considered, in particular. in the differential diagnosis of gastrointestinal symptoms in patients with neurofibromatosis. Also, a definite histologic diagnosis must be made, with the employment of special staining techniques, because of the differing prognoses for various cell types.

Adenocarcinoma↗
PubMed2001

The association of neurofibromatosis 1 and spinal deformity with primary hyperparathyroidism and osteomalacia: might melatonin have a role?

A 35-year-old woman with neurofibromatosis 1 and thoracic kyphoscoliosis had incomplete paraplegia. She had a history of hyperparathyroidism due to a parathyroid adenoma which had been excised 4 years previously. Plain radiographs of the spine revealed kyphoscoliosis from the third to sixth thoracic vertebrae. Kyphosis and scoliosis angles were 86 degrees and 28 degrees, respectively. Radiographs of the skull and hands showed radiological changes suggestive of hyperparathyroidism. Laboratory tests showed low-normal serum calcium, hypophosphatemia, elevated serum alkaline phosphatase, and low serum 25-hydroxyvitamin D. Retrospective review of the patient's laboratory data showed that she had osteomalacia at the time of diagnosis of primary hyperparathyroidism. The patient had been treated by anterior and posterior decompression and fusion with posterior instrumentation through a single posterior approach. The postoperative kyphosis and scoliosis angles were 30 degrees and 12 degrees, respectively. Neurological recovery and spinal fusion had been achieved. Osteomalacia responded well to vitamin D therapy. This is the first case of coexisting neurofibromatosis 1, primary hyperparathyroidism due to parathyroid adenoma and osteomalacia to be reported in the literature. The osteomalacia in this patient could be related to primary hyperparathyroidism, and not to neurofibromatosis 1. A drop in melatonin level after parathyroidectomy may have been the cause of spinal curvature progression in this patient.

Adenoma↗
PubMed2002

Paraparesis after excision of intrathoracic meningoceles in a patient with neurofibromatosis.

Intrathoracic meningocele associated with neurofibromatosis is a rarity. We treated a 16-year-old boy with neurofibromatosis, marked kyphoscoliosis, and two right-sided intrathoracic meningoceles. Because his chief complaints of cough and chest pain were thought to be caused by the meningoceles, resection of these lesions was performed prior to correction of the spinal deformity. On the day after the resection, complete paraplegia developed, followed by recovery to paraparesis. Decompressive lumbar puncture was performed, but intraspinal pressure was normal. Postoperative spinal cord damage and consequent paresis may have resulted from a loss of pressure buffering by the meningocele, which rendered the cord vulnerable to injury. The possibility of a similar unusual complication should be borne in mind when treating patients with intrathoracic meningocele associated with neurofibromatosis.

Adolescent↗
PubMed1989

Optic glioma with intraocular tumor and seeding in a child with neurofibromatosis.

We treated a 3-year-old boy with neurofibromatosis who had an optic glioma, intraocular extension with seeding, and iris tumors. On the basis of results of ultrasonography, computed tomography, magnetic resonance imaging, and fine needle aspiration, other intraocular and orbital tumors were excluded. Because of the malignant intraocular aspect, the optic nerve glioma was extirpated. Histologic examination confirmed the diagnosis of an optic nerve glioma with intraocular extension, seeding, and iris nodules. In this juvenile pilocytic astrocytoma with secondary perineural fibrous hyperplasia, several mitoses were found in the orbital and intraocular parts. In the optic canal, three small islands were found that were compatible with the diagnosis of malignant astrocytoma, grade 3. The iris nevi appeared as iris pits and not like the Lisch nodules typical of neurofibromatosis. Café au lait spots were present on the skin. The family history was positive for neurofibromatosis. The results of this study demonstrate that optic gliomas are true astrocytomas and not hamartomas, and have a continuous scale from benign to malignant differentiation.

Child, Preschool↗
PubMed1987

Apolipoprotein E synthesis in neurofibrosarcoma and schwannoma cell cultures from two individuals with neurofibromatosis.

Apolipoprotein E is expressed in neurofibrosarcoma and Schwannoma cell cultures derived from two patients with different types of neurofibromatosis, but not in six cell cultures derived from the benign neurofibromatosis neurofibromas. In addition, a cell culture derived from a nonneurofibromatosis human malignant astrocytoma showed apolipoprotein E expression. Although all cells in either the neurofibrosarcoma or Schwannoma cultures appeared morphologically similar (suggesting homogeneity), apolipoprotein E was immunochemically detected in the perinuclear region of only half of the cells. Thus, production of apolipoprotein E in neurofibromatosis-associated neurofibroma tumors may be a marker for a specific subclass of transformed cells. The expression of apolipoprotein E in glial cell neoplasms is possibly related to an alteration in their lipid metabolism.

Adult↗
PubMed1986

Neurofibromatosis xenografts. Contribution to pathogenesis.

We transplanted Schwann cells of 3 patients with neurofibromatosis from neurofibromas, sural nerve, and from a malignant schwannoma into sciatic nerves of immunoincompetent mice. Three and six months later, the grafts and distal nerve segments contained normal myelinated fibers. After rendering host animals immune competent again, neurofibroma and malignant schwannoma Schwann cells were rejected, but grafts retained normally myelinated fibers indicating that these were of mouse origin. Sural nerve Schwann cells from a neurofibromatosis patient were rejected also leaving naked axons in the grafted segments showing that human Schwann cells from the sural nerve of one patient had invested and myelinated the regenerating mouse axons. The nature of putative signals passing between axons and Schwann cells might be elucidated by the combination of human and animal cells in immunoincompetent host nerves. Hypothetical signals for myelination of mouse axons were normally received by sural nerve Schwann cells of a patient with neurofibromatosis, but not by Schwann cells from neurofibromas or malignant schwannomas.

Animals↗
PubMed1989

Asymptomatic fusiform aneurysm of the petrous carotid artery in a patient with von Recklinghausen's neurofibromatosis.

Fusiform aneurysmal dilatation of the petrous portion of the right carotid artery was found in a young patient with von Recklinghausen's neurofibromatosis. The patient presented with sudden left-sided hearing loss, and, during the evaluation of the hearing deficit, an asymptomatic right-sided vascular abnormality was identified. This vascular abnormality is unusual because those abnormalities commonly associated with von Recklinghausen's neurofibromatosis include occlusion of the cerebral arteries, arteriovenous malformations, and intracranial aneurysms. The pathophysiology and natural history of vascular abnormalities accompanying von Recklinghausen's neurofibromatosis are discussed.

Adolescent↗
PubMed1976

Neurofibromatosis and hypertension.

A case of generalized neurofibromatosis (von Recklinghausen's disease) associated with hypertension is presented. Adequate repair of the unilateral main artery stenosis did not result in cure of the hypertension because of diffuse neurofibromatous lesions of the smaller renal vessels. Review of the literature reveals that neurofibromatosis of the large and small renal vessels should be suspected in every hypertensive patient with these lesions below the age of eighteen. In view of the fact that vascular neurofibromatosis is a dynamic and spreading disease, surgery of the renal vessels should be reconstructive as much as possible.

Adolescent↗
PubMed1984

The pathophysiology of neurofibromatosis. II. Angiosarcoma as a complication.

A patient with Von Recklinghausen neurofibromatosis and an angiosarcoma (which developed subsequent to two separate neurofibrosarcomas ) is described, and the association of neurofibromatosis and angiosarcoma is reviewed. The data showed that angiosarcoma is not coincidental with neurofibromatosis, and there is a need to focus investigative efforts on the vascular aspects of this disease.

Adult↗
PubMed1985

Non-neural malignancy complicating neurofibromatosis in two relatives.

In a family with neurofibromatosis, an affected 16-year-old male developed undifferentiated lymphoma that evolved into acute lymphocytic leukemia. Five years later, his 7-month-old nephew with neurofibromatosis developed a prostatic embryonal rhabdomyosarcoma. This illustrates familial neurofibromatosis complicated by non-neural malignancy in relatives.

Adolescent↗
PubMed1990

Genetic counseling in segmental neurofibromatosis.

We report two patients with segmental neurofibromatosis and review the literature with regard to possible hereditary transmission of this disorder. Patients that meet strict criteria for the diagnosis of segmental neurofibromatosis seem to have a low probability of transmitting the disease. We emphasize the importance of establishing and strictly adhering to a set of diagnostic criteria and of obtaining a comprehensive family history when reporting cases of segmental neurofibromatosis.

Adolescent↗
PubMed2006

[Type I neurofibromatosis, pheochromocytoma and somatostatinoma of the ampulla. Literature review].

Gastrointestinal involvement in Von Recklinghausen's neurofibromatosis (autosomal dominant disease) is observed in 25% of patients and is frequently represented by duodenal carcinoids. We report a case of somatostatinoma of the ampulla in a 42-year-old female with neurofibromatosis and pheochromocytoma and show a literature review about the association of neurofibromatosis and somatostatinoma. This pathological association appears non hasardous and surgical ampullectomy offers a good alternative to pancreaticoduodenectomy in localised tumors treatment.

Adrenal Gland Neoplasms↗
PubMed2005

Remodelling the upper eyelid in the management of orbitopalpebral neurofibromatosis.

Neurofibromatosis of the orbitopalpebral complex is a debilitating disease. The development of safe craniofacial surgical technique has greatly improved outcome in the surgical palliation of this progressive condition, and various centres have reported their experience. Extensive upper eyelid neurofibroma creates a functional and aesthetic problem, which is inadequately addressed in the literature. The experience of the senior author (DM) representing the treatment of 27 such patients is currently reported. The stigmata of eyelid neurofibromatosis were scored retrospectively by a novel scale applied to standardised photographs at patient presentation. A numeric severity score was given to each of: upper eyelid ptosis, canthal malposition, and oculo-palpebral diastasis. Disease progression and post-operative result were similarly scored at various stages follow-up photography. All patients underwent a full thickness, transverse or transverse-oblique resection of upper eyelid disease, with immediate levator reconstruction and canthopexies as necessary. A mean improvement of 3.33 points was achieved in the majority of patients (median one operation per patient; mean 1.5, range 1-3). Secondary eyelid procedures (n=9 pts) represented tumour debulking, canthopexy, or procedures to deepen the fornix in patients with prostheses. This series demonstrates that a tailored, often radical palpebral remodelling in orbitopalpebral neurofibromatosis may provide functional and aesthetic benefit.

Child↗
PubMed2004

Correction of intraoperative coagulopathy in a patient with neurofibromatosis type I with intravenous desmopressin (DDAVP).

A patient with the genetic condition neurofibromatosis type I and no known coagulopathy undergoing cesarean delivery, had diffuse uterine and surgical site bleeding that was not correctable by oxytocin, methylergonovine and PGF2 alpha. Despite good uterine tone, hemorrhage continued from the uterus and the surrounding tissues, persisting even after surgical ligation of the uterine arteries. With no change in her condition, which was behaving clinically as a coagulopathy, an infusion of desmopressin acetate (DDAVP) was begun. The patient's bleeding promptly resolved shortly after infusion of this agent. A review of relevant literature suggests that platelet reactivity of patients with neurofibromatosis type 1 is attenuated in some in vitro conditions. Thus, there may be some theoretical basis for using DDAVP in patients with neurofibromatosis type 1 who have bleeding problems with no other known source, such as in the case presented here.

Adult↗
PubMed2005

Renal artery stenosis and aneurysms associated with neurofibromatosis.

Renal artery lesions associated with neurofibromatosis may involve stenosis and aneurysm formation at all levels of the renal artery to the intraparenchymal branches, and usually are associated with hypertension. A 13-year-old boy with type I neurofibromatosis and severe hypertension presented with multiple aneurysms and multiple stenotic lesions in the renal artery and segmental arteries. The patient underwent ex-vivo renal artery repair with autologous hypogastric artery and autotransplantation to the iliac fossa and was clinically improved. The characteristic histologic findings are presented. A review of the recent literature comparing different treatment modalities for renovascular hypertension in children with neurofibromatosis suggests that surgery remains the best treatment alternative.

Adolescent↗
PubMed2001

Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging.

PURPOSE: To examine the potential for visual acuity loss, and its relation to extent and location of optic pathway gliomas in a cohort of children with neurofibromatosis type 1 studied with magnetic resonance imaging. METHODS: We reviewed the neuro-ophthalmologic records and brain/orbital magnetic resonance imaging scans for 43 consecutive pediatric patients with neurofibromatosis type 1 and optic pathway gliomas who were followed at the Children's Hospital of Philadelphia. The presence of visual loss, defined as abnormal visual acuity for age in one or both eyes, was determined. Optic pathway gliomas were classified by tumor extent and location according to involvement of the optic nerves, chiasm, and postchiasmal structures by magnetic resonance imaging. RESULTS: Involvement of the optic tracts and other postchiasmal structures at tumor diagnosis was associated with a significantly higher probability of visual acuity loss (P =.048, chi-square test). Visual loss was noted in 20 of 43 patients (47%) at a median age of 4 years; however, three patients developed visual acuity loss for the first time during adolescence. CONCLUSIONS: In pediatric patients with neurofibromatosis type 1 and optic pathway gliomas, the likelihood of visual loss is dependent on the extent and location of the tumor by magnetic resonance imaging and is particularly associated with involvement of postchiasmal structures. Furthermore, older age during childhood (adolescence) does not preclude the occurrence of visual loss. Close follow-up beyond the early childhood years, particularly for those with postchiasmal tumor, is recommended.

Adolescent↗
PubMed2000

Pseudopapilledema in neurofibromatosis type 2.

PURPOSE: To report a case of neurofibromatosis type 2 with pseudopapilledema secondary to a prepapillary gliotic membrane. METHOD: Case report. Results of an ocular examination and fluorescein angiography of a patient are described. RESULTS: Fundus examination of a 14-year-old male with neurofibromatosis type 2 revealed an irregular elevation of the optic nerve and a perifoveal epiretinal membrane in the right eye. Fluorescein angiography demonstrated no autofluorescence nor leakage in the area of the optic nerve. CONCLUSION: The patient has pseudopapilledema secondary to an epiretinal membrane overlying the optic disk of the right eye. The possibility of pseudopapilledema should be considered when evaluating patients with neurofibromatosis type 2 and abnormal optic nerves.

Adolescent↗