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At least 451 records · Page 25Linked to original sources
PubMed1993

Protein-losing enteropathy caused by mesenteric vascular involvement of neurofibromatosis.

A 44-year-old man with neurofibromatosis suffered from severe diarrhea and progressive hypoproteinemia. Enteric protein loss was confirmed by an alpha 1-antitrypsin clearance test. An x-ray study showed irregular mucosa in the distal segment of the ileum. Protein loss has subsided after ileocecal resection. Laparotomy and radiological examinations failed to demonstrate neurofibroma or other tumors in the abdomen. The resected ileum revealed marked edema of the wall and a pseudomembranous enteritis-like appearance in the luminal surface. Microscopically, lymphatic vessels in the intestinal wall were dilated. Marked thickening of the intima with spindle cell proliferation was observed in the mesenteric arteries and veins. This finding is consistent with vascular changes in neurofibromatosis. These vascular changes in the mesentery due to neurofibromatosis may cause protein-losing enteropathy by altering the hemodynamic state and microvascular permeability in the intestine.

Adult↗
PubMed1992

Hypertension due to an aneurysm of the left renal artery in a patient with neurofibromatosis.

Arterial lesions in patients with neurofibromatosis are rarely described and in most cases are stenotic. The aneurysmal changes reported in the literature are usually characterized by multiple microaneurysms due to the dysplastic lesions of the artery. We report a case of a single aneurysm of the inferior hilar branch of the left renal artery of a young female with neurofibromatosis. The patient showed hypoperfusion of the renal pole fed by this branch and was hypertensive. The aneurysm had a diameter of 4 cm and showed the histological findings typical of dysplastic lesions of neurofibromatosis. The hypertension and the renal pole hypoperfusion recovered after surgical excision of the aneurysm and end-to-end anastomosis of the hilar branch stumps.

Adult↗
PubMed1998

Neurofibromatosis of the colon and rectum combined with other manifestations of von Recklinghausen's disease: report of a case.

Gastrointestinal involvement of neurofibromatosis occurs in as many as 25 percent of cases. Neurofibroma occurs most frequently in the stomach and jejunum, but the colon may also be involved. This condition is characterized by multiple submucosal neurofibromas of the gastrointestinal tract and café au lait pigmentation, bony abnormalities, and neurofibromas of both central and peripheral nerves. The lesions consist of an overgrowth of neural tissue along with other mesenchymal elements. Gastrointestinal neurofibromas may cause occult bleeding, luminal obstruction, or intussusception. Malignant transformation into neurofibrosarcoma is rare. We encountered a case of neurofibromatosis diffusely involving the left colon, the sigmoid colon, and the rectum, which resulted in herniation of the mass through the anus, with intestinal obstruction. The patient also showed skin lesions of the neurofibromatosis. We report this case with a review of the literature.

Colectomy↗
PubMedDate not supplied

Spontaneous hemothorax in neurofibromatosis treated with percutaneous embolization.

We evaluated the effectiveness of transcatheter arterial coil embolization therapy for the treatment of spontaneous hemothorax followed by aneurysm rupture in neurofibromatosis patients. Three patients were treated for massive hemothorax caused by arterial lesions associated with neurofibromatosis. Bleeding episodes were secondary to ascending cervical artery aneurysm and dissection of vertebral artery in 1 patient, and intercostal artery aneurysm with or without arteriovenous fistula in 2 patients. Patients were treated by transarterial coil embolization combined with chest drainage. In 1 patient, the ruptured ascending cervical artery aneurysm was well embolized but, shortly after the embolization, fatal hemorrhage induced by dissection of the vertebral artery occurred and the patient died. In the other 2 patients, the ruptured intercostal artery aneurysm was well embolized and they were successfully treated and discharged. Transcatheter arterial coil embolization therapy is an effective method for the treatment of spontaneous hemothorax followed by aneurysm rupture in neurofibromatosis patients.

Adult↗
PubMed2002

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis.

This report illustrates a case of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) masquerading as neurofibromatosis due to multifocal enlargements of spinal nerve roots. The patient initially complained of intermittent numbness of the hands and leg weakness at age 62. Nerve conduction velocities were reported to be abnormally slow, suggesting a diagnosis of demyelinating neuropathy. A complaint of progressive lower back pain 4 years later prompted a lumbar CT myelogram, which demonstrated bilateral nerve root enlargements. A biopsy of an enlarged lumbar root obtained during decompressive laminectomy was interpreted as consistent with a plexiform neurofibroma. He suffered recurrent paraparesis, at times with a sensory level indicating spinal cord compression, which responded to corticosteroid therapy. An autopsy 15 years after the onset of symptoms revealed hypertrophic radiculopathy and peripheral neuropathy due to CIDP with no evidence of neurofibromatosis. This case illustrates how the hypertrophic neuropathy accompanying CIDP can be mistaken for neurofibromatosis.

Aged↗
PubMed2003

Recent onset neurofibromatosis complicating eclampsia with maternal death: a case report.

Neurofibromatosis in pregnancy has been associated with poor perinatal outcome. A 30-year-old multigravida developed peripheral lesions of neurofibromatosis during the third month of pregnancy. She had eclampsia complicated with fatal left-sided massive intracerebral haemorrhage detected on computed tomography at 8.5 months gestation. Investigations were suggestive of HELLP syndrome. A still-born male baby was delivered. In spite of all supportive measures the patient died on the third postpartum day. We conclude that recent onset neurofibromatosis in current pregnancy should be considered as a predictor of potentially adverse maternal and fetal outcome and such pregnancies be managed in tertiary level referral centre.

Adult↗
PubMed1999

Malignant schwannoma and late-onset form of neurofibromatosis (NF-VII type) in a patient with skeletal manifestations.

INTRODUCTION: Von Recklinghausen's neurofibromatosis is known to occur with markedly variable expressivity. Nevertheless, cases that do not feature characteristic findings are uncommon. CASE: We report an extremely rare, sporadic case of neurofibromatosis, exclusively represented in the skeleton of a 49-year-old woman. The late onset of the disease and the absence of common diagnostic criteria permit us to classify it as neurofibromatosis type VII. Additionally, the disease was complicated by early malignant transformation of a thoracic neurinoma, which was removed by a wide local resection. Two years after surgery, the patient developed local recurrence and liver metastases. She died a few months later despite aggressive chemotherapy.

Bone Neoplasms↗
PubMed1999

Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

UNLABELLED: Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of "smooth muscle tumour of undetermined malignant potential". There were no recurrence of symptoms for 4 years after the operation. CONCLUSION: Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.

Child↗
PubMed2005

Spinal cord metastasis of a non-neurofibromatosis type-1 malignant peripheral nerve sheath tumor: an unusual manifestation of a rare tumor.

Malignant peripheral nerve sheath tumors are rare spindle-cell sarcomas derived from Schwann cells or pluripotent cells of the neural crest. They arise from the spinal roots, peripheral nerves, brachial and lumbosacral plexi, cranial nerves and terminal nerve fibers within soft tissue, intestine, lung and bone. These tumors recur either locally, or metastasize distally. Most of these tumors occur in association with neurofibromatosis type 1. Spinal cord metastasis from malignant nerve sheath tumors associated with neurofibromatosis type 1 is very rare. We describe a rare case of near-total spinal cord metastasis in a patient with malignant nerve sheath tumor in the absence of neurofibromatosis, and highlight the microscopic findings and natural history of this disease process.

Adult↗
PubMed2003

Brain Tumors in Neurofibromatosis.

The neurofibromatoses are common neurocutaneous syndromes with multisystem involvement. These disorders place patients at increased risk for the development of malignancies. In particular, there is a predisposition to develop central nervous system and peripheral nervous system neoplasms. Distinct tumor types develop in association with neurofibromatosis type 1 (NF-1) different from those that are typically associated with neurofibromatosis type 2 (NF-2). In general, the tumors associated with NF-1 and NF-2 tend to demonstrate a more indolent course than similar tumors in patients without neurofibromatosis. An exception would be earlier presentation of tumors in each of these disorders. Management decisions are based on multiple factors. These include tumor location, presumed or known histology, and patient symptoms at time of diagnosis or evidence of progression either clinically or as demonstrated by neuroimaging. Once all of these factors have been weighed, therapeutic considerations include expectant observation, surgery, and radiation or chemotherapy. The overall philosophy of treatment is that of attempting to preserve neurologic function for as long as possible, because these are progressive disorders. At times, it may be preferable to keep interventions to a minimum in order to achieve this goal. A multidisciplinary approach is crucial in the care of these patients.

Journal Article↗
PubMed1996

Plexiform neurofibromatosis involving the uterine cervix, endometrium, myometrium, and ovary.

BACKGROUND: Neurofibromatosis involving the female genital tract is unusual. The vulva appears to be most frequently affected, with only rare reports of vaginal, cervical, and ovarian involvement in patients with known von Recklinghausen's disease. CASE: We present a case of diffuse neurofibromatosis involving the cervix, endometrium, myometrium, ovarian cortex, and serosa in a patient with uncontrollable pelvic pain, diagnosed initially as endometriosis. No gross pathology was appreciated, and the histologic features of the small lesions were consistent with plexiform neurofibromas. CONCLUSION: The case presented is an example of diffuse involvement of the female genital tract by neurofibromatosis in a patient without a family history of von Recklinghausen's disease and without other clinical manifestations of the disease.

Adult↗
PubMed1997

Multiple cutaneous granular cell tumors in a child with possible neurofibromatosis.

A 4-year-old girl with possible neurofibromatosis I had multiple subcutaneous nodules. On histopathologic examination, these nodules were diagnosed as multiple cutaneous granular cell tumors. An association between these tumors and neurofibromatosis I has been suggested because of their common neuroectodermal origin. We review cases of multiple cutaneous granular cell tumors in association with neurofibromatosis I in childhood.

Child, Preschool↗
PubMed1992

Neurofibromatosis involving the small bowel associated with adenocarcinoma of the ileum with a neuroendocrine component.

A patient with neurofibromatosis involving the small bowel who developed adenocarcinoma in an area of the ileum showing diffuse involvement of the disease is presented. Unlike the five cases with this association previously described, the present case shows a neuroendocrine component within the adenocarcinoma. The relation between neurofibromatosis of the bowel wall and adenocarcinoma may be explained by a decreased intestinal transit time in this patient. The presence of a carcinoid tumor in the ileum is not unusual in a patient with von Recklinghausen's disease, although the location of the carcinoid in the duodenum is described more frequently in these patients. The appearance of endocrine/neuroendocrine features within an adenocarcinoma already involved by diffuse neurofibromatosis is exceptional and may not be a chance event.

Adenocarcinoma↗
PubMed2004

JCV T-antigen interacts with the neurofibromatosis type 2 gene product in a transgenic mouse model of malignant peripheral nerve sheath tumors.

The human polyomavirus, JC virus, has recently been associated with several human CNS tumors, including medulloblastomas and a broad range of glial-origin tumors. This ubiquitous virus is the causative agent of the rare demyelinating disease, progressive multifocal leukoencephalopathy in immunocompromised individuals. Expression of the viral protein, T-antigen, which possesses the ability to transform cells of neural origin, has been detected in human CNS tumors. In an effort to further understand the transforming potential of JCV T-antigen, transgenic mice expressing JCV T-antigen under the control of the Mad-4 promoter were generated. As described previously, approximately 50% of the animals developed pituitary tumors by 1 year of age. However, a small subset of the animals developed solid masses arising from the soft tissues surrounding the salivary gland, the sciatic nerve, and along the extremities that histologically resemble malignant peripheral nerve sheath tumors, rare neoplasms that occur in individuals with neurofibromatosis type 1 (NF1). JCV T-antigen was detected in tumor tissue by immunohistochemistry and immunoprecipitation/Western blotting, but not in normal tissues and was colocalized with NF2, the putative tumor suppressor protein associated with neurofibromatosis type 2, in the nucleus of some cells. In addition, T-antigen was co-precipitated with NF2, but not with NF1 protein, although NF1 was detectable in tumor tissue. Furthermore, precipitated immunocomplexes contained T-antigen, NF2, and p53, suggesting that these three proteins may form a ternary complex. The importance of these findings on mechanisms of T-antigen-mediated tumorigenesis and the pathogenesis of neurofibromatosis are discussed. Oncogene (2004) 23, 5459-5467. doi:10.1038/sj.onc.1207728 Published online 10 May 2004

Animals↗
PubMed1996

Neurofibromatosis complicated with XXX syndrome and renovascular hypertension.

A 25-year-old woman with neurofibromatosis was admitted to our hospital for evaluation of hypertension. When she was 6 years old, she was diagnosed as having neurofibromatosis and XXX syndrome because of multiple café-au-lait spots, neurofibromas of the skin and mental retardation. Chromosome analysis revealed that her karyotype was 46, XX/47, XXX. Renal arteriography disclosed aneurysmal change and stenosis of the right renal artery. After right-side nephrectomy and aneurysmectomy, the kidney was autotransplanted in the left iliac fossa. Surgical procedure resulted in marked amelioration of the hypertension without medical treatment. Thus, aortorenal bypass and renal autotransplantation have emerged as the preferred revascularization operations. This is the first report of a chromosomal linkage between neurofibromatosis which is thought to be an autosomal dominant disease and the XXX syndrome.

Adult↗
PubMed1997

Synchronous occurrence of Wilms tumor and ganglioneuroblastoma in a child with neurofibromatosis.

A 2-year-old male with neurofibromatosis who had a Wilms tumor of the right kidney and an ipsilateral adrenal ganglioneuroblastoma is reported. Both tumors were completely removed and no recurrence occurred for 4 years after completion of the therapy. In a review of the literature, the prognosis of neurofibromatosis with these embryonal tumors is not satisfactory due to development of secondary tumors and disseminated metastases of the tumors. The synchronous occurrence of Wilms tumor and neuroblastoma in neurofibromatosis is extremely rare and this may be the first report in the world.

Adrenal Gland Neoplasms↗
PubMed2000

Ruptured internal carotid aneurysm resulting from neurofibromatosis: treatment with intraluminal stent graft.

PURPOSE: This report shows a method of treatment for life-threatening hemorrhage due to rupture of an aneurysm in the cervical internal carotid artery caused by neurofibromatosis. METHODS: Ten days after delivery of healthy twins, a 28-year-old woman with known neurofibromatosis had sudden massive swelling in the left neck. After initial tracheostomy, angiography confirmed rupture of the mid cervical internal carotid artery as well as contribution to the resultant pseudoaneurysm from external carotid branches. Treatment began with coil embolization of the external carotid branches. The internal carotid lesion, a defect approximately 1 cm in length, was then closed through use of two stent grafts, each made from Palmaz stents and 3-mm polytetrafluorethylene grafts predilated to 6 mm. The neck hematoma was then evacuated surgically. RESULTS: Completion angiography and computed tomographic scanning confirmed control of the hemorrhage. The patient survived neurologically intact with the exception of cranial nerve deficits caused by the hemorrhage. The tracheostomy tube was removed 3 weeks postoperatively. Follow-up computed tomographic scanning showed a gradual decrease in the size of the cervical soft tissue and no recurrent aneurysm. CONCLUSION: Neurofibromatosis is a rare cause of aneurysmal degeneration of blood vessels. Repair of a ruptured cervical internal carotid artery aneurysm, though feasible, is difficult with stent grafts; however, this is a better option than surgical intervention in inaccessible vessels.

Adult↗
PubMed1995

Partial unilateral lentiginosis associated with segmental neurofibromatosis.

Partial unilateral lentiginosis associated with segmental neurofibromatosis is rate. Therefore, we describe here a patient with partial unilateral lentiginosis associated with ipsilateral segmental neurofibromatosis who developed multiple, rice-sized, brown macules on the right side of her face, trunk, and upper arm and several bean-sized, cafe-au-lait spots on the right upper arm and right upper back. To our knowledge, partial unilateral lentiginosis associated with ipsilateral segmental neurofibromatosis has not been reported in the English literature.

Adult↗