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At least 829 records · Page 46Linked to original sources
PubMed2000

Critical limb ischemia in a patient with von Recklinghausen's neurofibromatosis. Report of a case.

A 42-year-old woman complicated with neurofibromatosis underwent both balloon percutaneous transluminal angioplasty (PTA) of the iliac artery and femoropopliteal (FP) bypass grafting for critical lower limb ischemia. Seven months after the initial intervention, a recurrence of stenosis in the iliac artery and at the anastomoses of the FP bypass necessitated both PTA and a repeat thrombectomy and finally resulted in the amputation of her left thigh. This is a rarely documented case of chronic arterial occlusion associated with neurofibromatosis, in which the prognosis of arterial reconstruction for such patients is suggested to be poor.

Adult↗
PubMedDate not supplied

Neurofibromatosis and brainstem implants: what to do?

The histopathological changes in the temporal bones of one donor individual deceased for complications of neurofibromatosis type 2 are studied. The different modalities of presentation of neurofibromatosis and the criteria for the differential diagnosis are presented. The possibilities of the auditory brainstem implants in this pathology are discussed.

Brain Stem↗
PubMed1979

Cervical spine abnormalities in neurofibromatosis.

Fifty-six patients with neurofibromatosis were examined for abnormalities of the cervical spine and seventeen of them had demonstrated lesions there. Of the thirty-four patients who had scoliosis or kyphoscoliosis, fifteen (44 per cent) had cervical lesions. Many of the patients with those lesions were asymptomatic. To avoid the complications attributable to the cervical spine, we recommend roentgenographic examination in all neurofibromatosis patients who are about to have general anesthesia or skull traction for treatment of scoliosis.

Adolescent↗
PubMed2001

Malignant peripheral nerve sheath tumor with neurofibromatosis type 1: a 2-case report and review of the literature.

Malignant peripheral nerve sheath tumor is a very rare soft tissue tumor in the general population but there is an increased incidence in patients with neurofibromatosis type 1. Two cases of malignant peripheral nerve sheath tumor associated with neurofibromatosis type 1 whom we were able to follow-up long term are presented. Although wide excision was performed successfully in these patients, they suffered from local recurrence of the tumors shortly after surgery and died with distant metastases. The literature concerning the natural history and the management of this specific condition was reviewed.

Adult↗
PubMed2001

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients.

OBJECTIVE: To identify potential prognostic factors and criteria for early detection of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1). DESIGN: Retrospective study of malignant peripheral nerve sheath tumors in a cohort of 395 patients with NF1 followed up between October 1, 1988, and January 1, 1999; review of the clinical and histological characteristics of treatment and course; and analysis of p53 mutations and overexpression in tumors. SETTING: Teaching hospital referral neurofibromatosis center for adults. PATIENTS: Seventeen patients with NF1 (9 males and 8 females). Mean +/- SD patient age at diagnosis was 32 +/- 14 years. MAIN OUTCOME MEASURES: (1) Clinical symptoms, (2) comparison of p53 mutations and overexpression in benign vs malignant tumors; and (3) median survival. RESULTS: Twelve patients had high-grade tumors. All tumors except 1 developed on preexisting nodular or plexiform neurofibromas. Pain and enlarging mass were the first and predominant signs. None of the benign tumors displayed significant p53 staining or p53 mutations. Six of 12 malignant tumors significantly overexpressed p53, and 4 of 6 harbored p53 missense mutations. Median survival was 18 months overall, 53 months in peripheral locations, and 21 months in axial locations. CONCLUSIONS: Malignant peripheral nerve sheath tumors are highly aggressive in NF1. They mostly arise from plexiform or nodular neurofibromas. Investigations and deep biopsy of painful and enlarging nodular or plexiform neurofibromas should be considered in patients with NF1. Late appearance of p53 mutations and overexpression precludes their use as predictive markers of malignant transformation.

Adolescent↗
PubMed2001

Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofibromatosis type 1: immunohistochemical and ultrastructural evaluation.

Neurofibromatosis type 1 could be associated with multiple gastrointestinal stromal tumours, although their presence is not considered among the major diagnostic criteria. We present here a case of a 50-year-old female complaining of abdominal pain, with about 100 small intestinal stromal tumours. This finding prompted us to suspect a neurofibromatosis which was clinically confirmed afterwards. Light microscopy examination revealed a low-grade stromal tumour with skeinoid fibres. Mixed neural-interstitial cells of Cajal origin or, alternatively, neural differentiation of interstitial cells of Cajal are discussed on the basis of immunophenotype (CD117+, CD34+) and ultrastructure. A 2-year follow-up did not indicate an aggressive course in the case of this neoplasm.

Antigens, CD34↗
PubMed2000

Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins.

Dandy-Walker syndrome in monozygotic twins is reported. The twins reported, presented with delayed development, big head and dysmorphic features. In addition, there were significant cafe-au-lait spots on the trunk and other minor features consistent with the diagnosis of neurofibromatosis. To the best of our knowledge, Dandy-Walker syndrome in combination with neurofibromatosis in monozygotic twins has not been previously reported.

Dandy-Walker Syndrome↗
PubMed2001

Concomitant vagal neurofibroma and aplasia of the internal carotid artery in neurofibromatosis type 1.

We report the case of a patient with neurofibromatosis type 1 who had both aplasia of an internal carotid artery (ICA) and a vagal neurofibroma. To our knowledge, this is the first report in the literature of the simultaneous presence of these two rare disorders in a single patient. We believe that this is also the first report of an absence of an ICA in a patient with neurofibromatosis type 1. The patient was a 19-year-old woman who complained of a slowly growing neck mass. The mass occupied the right parapharyngeal space and upper cervical region. The patient had no other masses on physical examination, but widespread café au lait spots were evident. This led us to suspect the presence of a vagal neurofibroma. The tumor was removed, and pathology confirmed the diagnosis. No intracranial aneurysms were detected on cerebral angiography.

Adult↗
PubMed2002

[Pseudarthrosis of the ulna in a patient with neurofibromatosis].

A case of pseudoarthrosis and partial resorption of the ulna in a 12-year-old girl with neurofibromatosis is described. Neurofibromatosis is a common neurocutaneous disease with characteristic osseous lesions. The pseudoarthrosis in this case developed after fracture. The bone most commonly affected is the tibia and involvement of the ulna has been reported in only a few cases. The possible cause of pseudoarthrosis, the radiographic changes, and the treatment are discussed.

Child↗
PubMed2002

[Blue-red macules and pseudoatrophic macules in neurofibromatosis 1].

INTRODUCTION: Blue-red macules are exception during neurofibromatosis 1. Between October 1988 and March 2000 in our cohort of patients, we systematically looked for these lesions. PATIENTS AND METHODS: Presence and number of blue-red macules were evaluated. Biopsies and photographs were proposed to patients. RESULTS: Forty-four patients out of 583 (39 y; range: 20-66 y) (7.5 p. 100; CI 95 p. 100: 5.5-9.8 p. 100) had blue-red macules mainly on the trunk. Histologically, blue-red macules corresponded to neurofibromatous tissue infiltrating capillary blood vessels and venules. CONCLUSION: Blue-red macules are a peculiar type of neurofibroma and can therefore be considered as a criterion for the diagnosis of neurofibromatosis 1.

Adult↗
PubMed2002

Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1.

BACKGROUND AND PURPOSE: Sphenoid dysplasia associated with neurofibromatosis type 1 is classically thought to be primarily related to abnormal development of the sphenoid bone. We investigated the possibility that these changes may be progressive. METHODS: We conducted a retrospective review of sphenoid bone changes in all patients with craniofacial neurofibromatosis type 1 who had undergone CT (31 patients) and MR imaging (seven patients) at our facility. A review of repeat images of 20 patients permitted analysis of progressive sphenoid bone changes. RESULTS: Eighteen patients had abnormalities of the sphenoid wings, 13 of whom also had enlargement of the middle cranial fossa compatible with descriptions of classic sphenoid dysplasia. All the patients with sphenoid dysplasia had neurofibromas in the ipsilateral superficial temporal fossa that were often contiguous with a radiologically abnormal temporo-squamosal suture. All except one had tumor infiltration in the deep orbit, contiguous with the sphenoid wings. Four patients had radiologic evidence of progressive sphenoid bone changes over time. CONCLUSION: The origin of sphenoid bone changes may be multifactorial. A modified concept of sphenoid dysplasia is proposed that emphasizes interaction between neurofibromas and sphenoid bone during skull development.

Adolescent↗
PubMed2002

Neurofibromatosis type 2--the importance of serial imaging of the brain and spinal cord.

Meningiomas and schwannomas are relatively common central nervous system neoplasms, but patients harbouring multiple meningiomas or schwannomas are rare. We present the case of a 27 year-old patient with Neurofibromatosis type 2 with multiple associated intracranial meningiomas and spinal cord neurofibromas at various levels. Patients with Neurofibromatosis type 2 should be followed up for life with serial magnetic resonance imaging of the brain and spinal cord to detect new and recurrent tumours at these sites.

Adult↗
PubMed2002

[Association of type 1 neurofibromatosis and primary hyperparathyroidism].

INTRODUCTION: The combination of neurofibromatosis type I with hyperparathyroidism is classical but rare. OBSERVATION: Our report is on the original observation of a patient affected with Von Recklinghausen's disease complicated by chronic restrictive breathing deficiency. After an intense breathing decompensation and a spreading convulsive attack, hyperparathyroidism was diagnosed. DISCUSSION: The similarity of the bone lesions seen in type I neurofibromatosis and in hyperparathyroidism strongly suggests a genetic link between these two pathologies. Hence, hyperparathyroidism should be searched for in all patients affected with Von Recklinghausen's disease, since the adjustment of hypercalcemia can lead to partial reversibility of the bone abnormalities.

Acute Disease↗
PubMedDate not supplied

[Value of MRI in hepatic plexiform neurofibromatosis. Case report].

Neurofibromatosis of the liver is a rare localization of type 1 neurofibromatosis. In terms of nature and local extension of the tumor, MR imaging provided accurate information compared to ultrasonography and computed tomography scan. Furthermore, MR imaging should be the first line noninvasive exploration for follow-up or biopsy guidance if progression to sarcomatosis is suspected.

Adult↗
PubMed2002

[Isolated palpebral tumor revealing Von Recklinghausen's neurofibromatosis: a case report].

INTRODUCTION: Von Recklinghausen's neurofibromatosis is the most frequent of phakomatoses. Its incidence is 1/2,500-3,000 births. It is inherited through a dominant autosomal mode with a strong prevalence and changing expression. Eye and skin signs are essential to diagnosis and this case provided a noteworthy example of a unilateral upper palpebral tumor revealing this disease. CLINICAL CASE: We report a case of a 6-year-old boy whose original clinical manifestation was a tumor on the upper eyelid of the right eye, present at birth. According to the anamnesis, this palpebral tumor gradually increased in size, causing a full ptosis. A biopsy exeresis of the tumor was carried out with an anatomicopathological study of the biopsy specimen, confirming the diagnosis. CONCLUSION: The anatomicopathological study of the biopsy specimen enabled diagnosis of a neurofibromatosis revealed by this isolated palpebral localization responsible for significant aesthetic and functional damage.

Biopsy↗
PubMed2002

Von Recklinghausen neurofibromatosis with palatal localization. Diagnostic and surgical problems in two clinical cases.

This paper illustrates the clinical findings and aims at report surgical matters observed in 2 patients affected by neurofibromatosis type I with a rare palatal localization. By means of retrospective analysis 2 cases of neurofibromatosis type I with a palatal mass are selected. Both cases were surgically treated and underwent 12 months follow-up. Patients underwent surgical removal of the palatal neurofibroma. At 12 months follow-up a good local condition without any recurrence was observed. Malignant transformation was very rarely reported in oral neurofibromata and can follow incomplete removal. Surgical treatment of neurofibromata requires the sacrifice of the nerve trunk from where they originate, together with the complete removal of the mass with security margins. Therefore, risks and benefits from surgery should be carefully weighted in each patient and where surgery is not performed clinical and radiographic trials are advisable.

Adolescent↗
PubMedDate not supplied

Pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1).

We report here a case of primary pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1). A 60-year-old man was urgently admitted to Tokai University Hospital, Japan, due to severe right chest pain. Skin inspection showed subcutaneous tumor lesions and café-au-lait spots, and therefore a diagnosis of neurofibromatosis type 1 (NF1) was made. Chest X-ray showed marked fluid accumulation in the right pleural cavity, and he was diagnosed as having empyema by thoracic drainage. Chest X-ray showed a large round mass lesion (80 mm in diameter) in the right lower lung field. Percutaneous needle biopsy of the tumor revealed that the empyema was caused by actinomycotic infection, and then he underwent right middle and lower lobectomy. Histopathological examination of the surgical specimens revealed features of spindle cell sarcoma. Several postoperative systemic examinations showed no other lesions except in the right lung. We concluded that this was a complicated case of primary pulmonary sarcoma with NF1.

Humans↗
PubMed2003

[Intravascular ultrasound imaging of the renal artery in patients with renovascular hypertension caused by neurofibromatosis 1].

A 26-year-old woman with neurofibromatosis 1 was admitted to our hospital for investigation of prolonged hypertension after toxemia of pregnancy. Plasma renin activity was elevated. From the renogram, stenosis of right renal artery was suspected and we performed renal arteriography, which revealed proximal right renal artery stenosis. The intravascular ultrasound (IVUS) image showed concentric stenosis with intimal and medial hypertrophy, which was iso-echoic and partly high echoic. Percutaneous transluminal renal angioplasty was performed and the lesion was well dilated. After angioplasty, blood pressure normalized in a week. From the clinical course and the IVUS image, we suspected that renal artery stenosis was due to neurofibromatosis 1.

Adult↗