Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “NEUROFIBROMATOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources
PubMedDate not supplied

Subperiosteal hemorrhage and cyst formation in neurofibromatosis: a case report.

A 7-year-old girl was disabled by neurofibromatosis complicated by leg hypertrophy, recurrent massive hemorrhage, and cyst formation in her right tibia. A grotesque deformity resulted in the right lower leg over a three-year period despite elevation, compression, and aspiration for various bleeding episodes. Massive areas of bone had to be resected on two separate occasions. The extreme vascularity of the region caused postoperative recurrences, but there was always some improvement. The pathologic findings consisted of true schwannomas in the periosteum. The basic problem of neurofibromatosis was the endoneural cell proliferation that was responsible for the hypertrophy, hemorrhages, and cyst formation. While there are various hemorrhagic problems in neurofibromatosis, this case demonstrates the characteristic massive hemorrhage and rapid new bone formation that follow minimal trauma, and illustrated the difficulties that are encountered in both nonoperative and operative management.

Bone Cysts↗
PubMed1995

Symptomatic tumors affecting the urinary tract in children with neurofibromatosis.

PURPOSE: We determined the need for urological screening in children with neurofibromatosis. MATERIALS AND METHODS: Of 96 children with neurofibromatosis treated at our institution 6 (6.2%) had a symptomatic tumor that affected the urinary tract. RESULTS: There were 5 plexiform neurofibromas and 1 prostatic rhabdomyosarcoma. Five children had a palpable abdominal mass and 3 required urinary diversion. CONCLUSIONS: Since most morbidity resulted because tumors were advanced by the time symptoms developed, we suggest that children with neurofibromatosis be screened annually with medical history, physical examination, urinalysis and serum chemistry studies for tumors that affect the urinary tract.

Adolescent↗
PubMed1994

Ampullary carcinoid and neurofibromatosis: case report and review of the literature.

A 49-year-old woman is reported with an ampullary carcinoid and von Recklinghausen's neurofibromatosis, presenting with melaena. On upper GI-endoscopy a tumour of the ampulla of Vater was seen. Histochemical examination revealed a carcinoid tumour. A review of the literature shows that patients with von Recklinghausen's neurofibromatosis are at increased risk for developing tumours of neuroectodermal origin, with the ampulla of Vater as predilection site. Therefore, early diagnostic evaluation, primarily by gastroduodenoscopy, for malignancies in patients with von Recklinghausen's neurofibromatosis and abdominal discomfort is recommended. Surgical removal is the only therapy so far evaluated.

Ampulla of Vater↗
PubMed1993

[Neurofibromatosis and pregnancy. Considerations on a clinical case and review of the literature].

In this paper, starting from a case of neurofibromatosis adversely affecting pregnancy, the authors consider several interactions between pregnancy and Von Recklinhausen's diseases. The review of the literature emphasizes either an exacerbation of the maternal disease because of pregnancy, or the onset appearance of serious complications such as sarcomatous degeneration of neurofibromas, activation of a silent pheochromocytoma, rupture of an aneurysm. Moreover, the effects of neurofibromatosis on the pregnancy cause an elevated risk of IUGR, pregnancy hypertension, abortion and stillbirth and oligohydramnios. The pregnancy of a patient affected with neurofibromatosis needs careful evaluation of the maternal clinical conditions and of the foetus-placenta unity.

Adult↗
PubMedDate not supplied

[Pulmonary changes in patients with type I neurofibromatosis and tuberous sclerosis].

Two patients with pulmonary affections in the course of neurofibromatosis and tuberous sclerosis are presented. We wanted to draw attention to the possibility of occurrence of diffuse interstitial pulmonary changes during congenital neurocutaneous syndromes, of which no data are reported in our literature. The affection of the lungs in 10-20% of the patients with neurofibromatosis and 1% with tuberous sclerosis is estimated, commonly in women. The most frequent changes in neurofibromatosis are fibrosing alveolitis and interstitial fibrosis, and in tuberous sclerosis cystic lung changes and lymphangiomyomatosis, what agrees with our findings. It is important to recognize such patients in order not to perform unnecessary diagnostic procedures, and not to draw wrong conclusions, thus being able to avoid an unnecessary therapy, ineffective in such cases. The patients should be followed up, and in the case of complaints symptomatic therapy has to be administered.

Adult↗
PubMed1996

Myopia in neurofibromatosis type 1.

We studied the prevalence of myopia in 17-year-old Israeli military recruits with neurofibromatosis type 1 (NF1). Twenty-four percent of the youngsters with neurofibromatosis had myopia, compared to 19% of the controls; this difference was statistically significant (P < 0.03). The recruits with NF1 had a slightly lower IQ, fewer years of education, and lower height and weight than the controls. Thus, these factors, which have been reported to be associated with myopia, did not significantly influence the high prevalence of myopia in the neurofibromatosis subjects. A high prevalence of myopia seems to be an additional feature of NF1.

Adolescent↗
PubMedDate not supplied

[Von Recklinghausen disease and hepatic neurofibromatosis].

Von Recklinghausen's neurofibromatosis is one of the most common autosomal dominant disease with an estimated frecuency of 1:3000 live births. Characteristic lesions include cafe-au-lait spots and neurofibromas following the path of peripheral nerves. Liver involvement by neurofibromatosis is rare and very few cases have been reported. We present a case of a young man with Von Recklinhausen's disease and hepatic neurofibromatosis with multiple caf-au-lait spots, cutaneous neurofibromas, short stature and osseous lesions and compare the clinical, radiological, surgical and anatomopathological findings with others describe previously in the literature.

Adolescent↗
PubMed1996

[A case report of dysembryoplastic neuroepithelial tumor associated with neurofibromatosis type 1].

Dysembryoplastic neuroepithelial tumor (DNT) in a newly proposed mixed neuroglial tumor in the cerebral cortex. However, DNT associated with phacomatosis has mostly been considered exceptional. In this paper, a case of DNT associated with neurofibromatosis type 1 is reported. A 23-year-old male was admitted to our hospital complaining of intractable complex-partial seizure. He had a history of neurofibromatosis type 1 (NF - 1) and pituitary dwarfism. On general physiological examination, many cafe au lait spots and freckling could be noted, showing that the case was neurofibromatosis type 1. In addition, neurological examination showed no abnormal findings. MR images revealed a small area of abnormal intensity on the right temporal. This region showed high intensity on T2 weighted image and low intensity without enhancement on T1 weighted image. On electroencephalography (EEG), an epileptic spike focus was demonstrated in the right temporal lobe. So, lobectomy was performed for control of epilepsy. Postoperative course was uneventful and without seizure. On histological examination, the tumor was composed of three different components : specific glioneural element, foci of oligodendrocyte-like cell, and cortical dysplasia. All of these findings were consistent with the definition of DNT by Daumas-Duport et al, except for the association with NF - 1. Although reported cases of DNT associated with FN - 1 are exceptionally rare, both DNT and NF - 1 originate from maldevelopment of the fetal central nervous system. It is very interesting that our case indicated the possibility of co-existence of both diseases.

Adult↗
PubMed1997

[Neurofibromatosis type 1: a survey of 195 patients].

OBJECTIVE: To analyse symptoms and complications in patients with neurofibromatosis type 1 (NF1). All patients were examined in a multidisciplinary outpatient neurofibromatosis clinic during a period of 10 years. DESIGN: Retrospective. SETTING: Academic Medical Center, University Hospital Amsterdam, the Netherlands. METHOD: All data on 450 persons visiting the neurofibromatosis clinic were stored in a database. Data were collected on the results of dermatological, neurological, ophthalmological and general examinations and on family history. For this study the follow-up data of 196 patients with a definite diagnosis of 'NF1' were analysed. RESULTS: In childhood diagnosis NF1 is predominantly based on specific dermatological symptoms such as > 6 café-au-lait (CAL) spots and freckling and on the presence of characteristic ophthalmological signs as two or more Lisch nodules. In this study the frequencies of these symptoms were 98% (CAL). 92% (freckles), and 93% (Lisch nodules) respectively. The frequencies of well-known complications of this disorder are comparable with the literature findings. In this study we found optic pathway glioma (OPG) in 10%, macrocephaly in 36%, hydrocephalus in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%. renal artery stenosis in 0.5% and neurofibrosarcoma in 0.5% of NF1 patients. In children the degree of severity of this disorder is less than in adults, demonstrating the progressive character of the disease. CONCLUSION: The diagnosis of 'NF1' can usually be made by dermatological and ophthalmological examination. In case of a definite diagnosis in childhood regular follow-up is recommended since severe complications, such as OPG and kyphoscoliosis, may occur specifically in childhood and adolescence. For adult patients determination of the degree of severity is essential for the decision whether or not they need regular follow-up; they should have their blood pressure measured annually.

Adolescent↗
PubMed1997

[Neurosarcoma associated with neurofibromatosis 1. Apropos of a case and review of the literature].

BACKGROUND: Type 1 neurofibromatosis considerably increases the risk of cancer development, particularly neurosarcoma. We report a case in a patient with chemosensitive metastatic neurosarcoma. CASE REPORT: A young female patient with familial type 1 neurofibromatosis developed pleural metastasis of a neurosarcoma located on the arm. This tumor was initially highly sensitive to chemotherapy, but relapse occurred. DISCUSSION: Follow-up in the order members of the family was particularly difficult to organize. One sister developed cerebral astrocytoma. Neurosarcomas develop earlier in patients with type 1 neurofibromatosis, worsening prognosis. We suggest a prospective and structured registration of such cases using a network of clinicians and pathologists in order to improve management schemes.

Adult↗
PubMed1998

[Two cases of subarachnoid hemorrhage associated with neurofibromatosis type I: a case of multiple cerebral aneurysms and arteriovenous malformation, and another case of an anterior communicating artery aneurysm].

Two cases of subarachnoid hemorrhage associated with neurofibromatosis type I (von Recklinghausen's disease) are reported. A 30-year-old male patient (case 1) had been diagnosed as having neurofibromatosis type I due to neurofibroma and café-au-lait spot. He suffered from subarachnoid hemorrhage and angiography showed multiple aneurysms in the right and left middle cerebral arteries and left internal carotid artery. He also had arteriovenous malformation in the left temporal lobe. Case 2 was that of a 62-year-old female patient with neurofibroma and café-au-lait spot. She suffered from subarachnoid hemorrhage and angiography showed an aneurysm in the anterior communicating artery. Both patients were discharged with no deficits after neck clipping, however they both suffered from large-sized hematoma in the punctured site of the femoral artery after angiography. The cerebral aneurysms associated with neurofibromatosis type I are often multiple and may coexist with arteriovenous malformation.

Adult↗
PubMed1978

[Neurofibroma and neurofibrosarcoma in Recklinghausen's neurofibromatosis].

The neurofibromatosis von Recklinghausen is a systemic disease, which can cause various different changes in the body. The case report of a female patient shows all the typical signs of neurofibromatosis von Recklinghausen. These signs are café-au-lait spots, congenital tibia pseudarthrosis, abdominal plexiform neurofibromatosis and peripherical neurofibromas with sarcomatous degeneration.

Adult↗
PubMedDate not supplied

Mouse models of neurofibromatosis 1 and 2.

The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors whereas those affected with neurofibromatosis 2 (NF2) develop schwannomas and meningiomas. The development of traditional homozygous knockout mice has provided insights into the roles of the NF1 and NF2 genes during development and in differentiation, but has been less instructive regarding the contribution of NF1 and NF2 dysfunction to the pathogenesis of specific benign and malignant tumors. Recent progress employing novel mouse targeting strategies has begun to illuminate the roles of the NF1 and NF2 gene products in the molecular pathogenesis of NF-associated tumors.

Animals↗
PubMed1990

Progress toward the isolation and characterization of the genes causing neurofibromatosis.

Neurofibromatosis 1 and neurofibromatosis 2 are clinically distinct autosomal dominant disorders that affect an estimated 1.5 million individuals throughout the world. The genetic defect in each disorder has been mapped to different chromosomes, NF1 to chromosome 17 and NF2 to chromosome 22. Progress towards the cloning of the NF1 gene has proceeded rapidly. The NF1 locus was bracketed using genetic linkage analysis on NF1 affected pedigrees. Physical mapping methods were then used to precisely map the translocation breakpoints in each of two NF1 affected individuals who harbored constitutional chromosomal translocations in the putative NF1 region of chromosome 17. The region of DNA located between the two translocations has been cloned in cosmids and yeast artificial chromosomes and a number of RNA coding sequences have been identified. The identification of the NF1 gene will depend on finding mutations in the DNA of affected individuals. In the case of NF2, progress seems to have been less rapid, in part due to the lower availability of NF2 affected pedigrees. The genetic defect has been mapped to the long arm of chromosome 22 by studies of chromosomal loss in the tumours associated with this disease. Subsequent genetic mapping has confirmed this location. Flanking DNA markers for the NF2 locus have been identified. The region of DNA between these markers is in the order of 5-10 Mb. The identification of chromosomal aberrations in patients with NF2 that involve chromosome 22 will play an important role in the identification of the NF2 gene in much the same way as they have in NF1.

Chromosome Aberrations↗
PubMed2001

Neurofibroma of the larynx in neurofibromatosis: preoperative computed tomography and magnetic resonance imaging.

Neurofibromas of the larynx are extremely rare. They occur in association with neurofibromatosis less frequently than solitary neurofibromas. However, most laryngeal tumors in neurofibromatosis are neurofibromas. This disorder has 2 histological subtypes, which require different surgical approaches because of their biological differences. Few cross-sectional imaging studies have been performed in neurofibroma of the larynx. We describe a 44-year-old man with neurofibromatosis and nonplexiform neurofibroma of the larynx and discuss the role of preoperative computed tomography and magnetic resonance imaging in this case. The tumor was removed completely using an endolaryngeal approach without an external incision. It was possible to distinguish subtypes preoperatively on cross-sectional imaging. Magnetic resonance imaging provided more sensitive information in the diagnosis of this tumor than computed tomography. Preoperative cross-sectional imaging should be performed to help the surgeon diagnose and choose an appropriate surgical approach for this disorder.

Adult↗
PubMed1993

National Neurofibromatosis Foundation International Database.

The National Neurofibromatosis Foundation International Database is a system for collecting comprehensive information on the clinical manifestations and natural history of neurofibromatosis. Data are entered into personal computers at participating centres and are pooled at the Central Database and coordinating centre in Vancouver, Canada. The system includes special mechanisms to assure consistency among centres and to maintain patient confidentiality. The database is designed to foster collaborative clinical and molecular genetic research in many aspects of neurofibromatosis.

Canada↗
PubMed1994

Involvement of spinal nerves in neurofibromatosis.

Spinal tumors are a frequent form of manifestation of neurofibromatosis. Out of 171 patients, who have been operated on over a ten years period on spinal tumors, 7 patients had neurofibromatosis (4.1%). A total of 9 operations were performed, removing 20 spinal tumors. Three patients had multiple neurofibromas. Half of the neurofibromas had a dumbbell configuration with a larger extraspinal extension. In three patients a family history of neurofibromatosis and typical dermatological signs were evident. Two cases will be selected and the basic concept regarding treatment and the risks involved will be discussed.

Adolescent↗
PubMed1993

Renal artery stenosis secondary to neurofibromatosis in children: detection by Doppler ultrasound.

Renal artery stenosis was diagnosed in two adolescents with neurofibromatosis using Doppler ultrasound. The diagnosis was confirmed by angiography. The renal vascular lesion in neurofibromatosis usually affects the proximal segment of the artery, which is the part most optimally visualized by ultrasound. We suggest that Doppler ultrasound of the renal arteries may be a useful technique in the investigation of hypertensive children with neurofibromatosis.

Adolescent↗