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 325 records · Page 18Linked to original sources
PubMed2005

[GI hemorrhage with fulminant shock induced by jejunal gastrointestinal stromal tumor (GIST) coincident with duodenal neuroendocrine carcinoma (NET) + neurofibromatosis (NF) -- case report and review of the literature].

BACKGROUND: The incidence of neuroendocrine tumors (NET) and of gastrointestinal stromal tumors (GIST) is 0.5 and 1 - 2 in 100,000; the prevalence of neurofibromatosis is 1 in 3000 live births in Western countries. CASE REPORT: A 43-year-old white woman with a six-month history of meleana, paleness, vertigo and fatigue was not referred to any gastrointestinal doctor for diagnostic work-up. Finally, she collapsed and was admitted to hospital because of an acute gastrointestinal bleeding. Endoscopically the source of bleeding could not be localized while blood in the duodenum and proximal jejunum was demonstrable. The source of bleeding could not be identified by endoscopy, CT scan or angiography. The patient developed a fulminant gastrointestinal hemorrhage with hemoglobin levels below 3.5 g %. An emergency laparotomy and pylorus-preventing Whipple operation was performed. Pathological studies showed a GIST with 3.5 cm diameter of the proximal jejunum which was the source of bleeding. Coincidentally a neuroendocrine carcinoma of the duodenum was found. CONCLUSION: This case is the first presentation of the coincidence of a neuroendocrine carcinoma of the duodenum with a jejunal bleeding gastrointestinal stromal tumor in neurofibromatosis type1 which led to hemorrhagic shock. In neurofibromatosis -- even if non-symptomatic -- the increased incidence of tumor needs to be considered.

Adult↗
PubMed1986

[Neurofibromatosis and pregnancy].

A case of neurofibromatosis (Recklinghausen's disease) in pregnancy in a 29-year-old patient is reported. The woman has had two uncomplicated pregnancies and deliveries. The lesions of the neurofibromatosis did not change during the course of the pregnancy. However, based on the few published cases it is necessary to pay attention to hypertension or an exacerbation of the neurofibromatosis.

Adult↗
PubMed2003

Medical management of neurofibromatosis 1: a cross-sectional study of 383 patients.

BACKGROUND: The morbidity and mortality caused by neurofibromatosis 1 are a result of complications that may involve any of the body systems. Two models of management have been proposed for the detection of various complications in specialized neurofibromatosis clinics: investigation protocols (including extensive imaging and analysis of 24-hour urinary catecholamine levels); or clinical follow-up without imaging. OBJECTIVE: Our purpose was to validate the strategy of clinical follow-up (without routine imaging and 24-hour urinary catecholamine levels). METHODS: We retrospectively compared the number of treated complications during 2 successive periods from our database: screening investigations from November 1988 to June 1995 and clinical examination from July 1995 to June 2000. RESULTS: The number of treated complications during the 2 periods was not statistically different (27/166 vs 28/217; Fisher's exact test, P =.39). CONCLUSION: Screening investigations added little to clinical follow-up. Indeed, routine clinical examination can easily identify complications that require treatment in adult patients with neurofibromatosis 1.

Adolescent↗
PubMed1999

Eighteen-year survival of a patient with malignant pleomorphic xanthoastrocytoma associated with von Recklinghausen neurofibromatosis.

The authors report the first adult case of pleomorphic xanthoastrocytoma associated with neurofibromatosis-1. A 40-year-old man with history of neurofibromatosis-1 underwent total removal of a right temporo-parietal superficial glioma followed by radiation therapy. Eighteen years after surgery, the patient remained well with no tumour recurrence, which prompted review of the surgical material. The diagnosis of pleomorphic xanthoastrocytoma was then made though the tumour exhibited malignant features histologically, with marked necrosis. This extremely good clinical outcome suggest that some astrocytoma tumours in patients with neurofibromatosis might be associated with a favourable prognosis.

Adenoma, Pleomorphic↗
PubMed1988

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/10(5]. In addition to multiple café-au-lait spots and/or dermal neurofibromas, freckling was present in the axilla (67%), groin (44%) or submammary areas (29% of adult females). Although not a criterion for diagnosis, Lisch nodules were almost invariably present in the iris (93% of patients overall; 96% of those aged greater than or equal to 20 yrs). The complications of von Recklinghausen neurofibromatosis in this cohort (n = 135 unless stated) were plexiform neurofibromas (40/125), severe mental retardation (1), epilepsy (6), optic glioma (2), spinal neurofibroma (2), aqueduct stenosis (2), meningioangiomatosis (1), scoliosis requiring surgery (6), pseudoarthrosis (3), delayed puberty (2), visceral and endocrine tumours (6), and congenital glaucoma (1). There were no cases of acoustic neuroma. Considering all living family members aged greater than or equal to 18 yrs, together with their deceased relatives, the frequency of CNS and malignant tumours related to the disease was 4.4-5.2%. Uncomplicated von Recklinghausen neurofibromatosis is disfiguring but not a major cause of morbidity. The management of the disease relates to its complications which can be divided into three categories: those which occur in childhood and cause lifelong morbidity (moderate-severe mental handicap, facial plexiform neurofibromas, orthopaedic), those which can occur at any time but are 'treatable' (benign disorders of the nervous system, visceral and endocrine tumours, renal artery stenosis), and malignant or CNS tumours. The combined frequency for each category based on this survey was 12%, 16% and 4.4-5.2%, respectively.

Adolescent↗
PubMed2003

Massive hemoptysis caused by endobronchial schwannoma in a patient with neurofibromatosis 2.

Neurogenic tumor of the lung is very uncommon. To the best of our knowledge, endobronchial schwannoma complicated by massive hemoptysis in a patient with neurofibromatosis 2 has not been reported previously. We report a case of endobronchial schwannoma complicated by massive hemoptysis in an 18-year-old man with neurofibromatosis 2. The diagnosis of neurofibromatosis 2 was established by demonstration of bilateral vestibular schwannomas on magnetic resonance imaging of the brain and pathologic examination of the resected brain tumors. Massive hemoptysis developed after surgical removal of the brain tumors in this patient. Bronchoscopy was done immediately after the first episode of hemoptysis and a tumor protruding from the orifice of the right lower lobe bronchus was found. Despite 2 additional bronchoscopies to stop bleeding and ameliorate airway obstruction in the consecutive 2 days, hemoptysis recurred rapidly and caused profound oxygen desaturation. The patient was subjected to right lower lobectomy and endobronchial schwannoma was evidenced pathologically.

Adolescent↗
PubMed1989

Localized neurofibromatosis of the female genitourinary tract.

The internal female genital tract is rarely involved in neurofibromatosis. This report details a case of diffuse neurofibroma with prominent Wagner-Meissner body differentiation involving uterine cervix and endocervix, vagina, and vulva. The urinary bladder, urethra, and one ureter were also extensively affected. The anatomic localization of the lesions in this case is consistent with segmental neurofibromatosis restricted to the distribution of the second, third, and fourth sacral nerves. Failure to consider the possibility of genitourinary involvement in neurofibromatosis, the potential for localized manifestations in the absence of other easily recognized stigmata, and the subtle histologic features in small tissue biopsies may cause difficulty in diagnosis.

Adult↗
PubMed1997

Management of a large arteriovenous fistula in the face: a case of neurofibromatosis type 1.

Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis) is of particular interest to the plastic surgeon, as it affects the skin. The majority of affected patients require operative procedures for cosmetic and functional reasons. Rarely, vascular lesions such as stenosis, rupture of an aneurysm, and fistula formation in neurofibromatosis type 1 can create some difficulties during operation without any symptoms before surgery. We report the management of a large occipitojugular fistula. This life-threatening fistula was located on the right side of the face of a 28-year-old patient who had been operated six times for the same neurofibromatous mass without any operative complications. During the operation for partial excision of the neurofibromatous mass, life-threatening, uncontrollable hemorrhage began and the operation was ended without excision. Postoperative angiography revealed an arteriovenous fistula between the occipital artery and jugular vein, and also total occlusion/agenesis in the postclinoid cisternal segment of the internal carotid artery. The fistula was obliterated with coil and histoacryl lipiodol mixture. After this procedure partial excision was performed without abnormal bleeding.

Adult↗
PubMed1993

Analysis of skull anthropometric measurements in patients with neurofibromatosis type-1.

RATIONALE AND OBJECTIVES: The authors studied selected anthropometric measurements of plain postero-anterior and lateral skull roentgenograms to ascertain whether these were useful in distinguishing patients with clinically probable neurofibromatosis type-1 from controls. METHODS: A retrospective review of medical records of patients for whom skull roentgenograms were available was conducted. Patients were assigned to one of three groups: definite neurofibromatosis type-1 (DNF), probable neurofibromatosis type-1 (PNF), and controls. A blinded analysis of 29 measurements, 9 qualitative assessments, and 3 area/volume calculations was performed. RESULTS: There were 58 patients (29 controls, 14 DNF, and 15 PNF). The majority (75%) of all predetermined landmarks could be ascertained in 43 of these subjects. After age and gender were held constant, analysis of covariance showed that both DNF and PNF subjects could be distinguished from controls, but not from each other when comparing the mean: sella turcica height (P < .001), sella turcica depth (P < .005), skull width (P < .001), skull length (P < .002), skull height (P < .003), and skull volume (P < .0001). CONCLUSIONS: Anthropometric analysis of skull roentgenograms coupled with results of clinical examination improves the ability to distinguish between patients with DNF and PNF from controls.

Adolescent↗
PubMed1983

Peripheral neurofibromatosis.

Neurofibromatosis or von Recklinghausen disease usually is a readily diagnosed entity, characterized by typical cutaneous lesions and a strong family history. In a variant of the usual disease, peripheral neurofibromatosis, these stigmata may be absent and accurate diagnosis may be elusive. We present a patient without diagnostic cutaneous lesions in whom the diagnosis of neurofibromatosis was initially suggested by computed tomography because of numerous masses in the distribution of peripheral nerves.

Female↗
PubMed1984

Gastrointestinal neurofibromatosis.

Progressive anemia, melena, and sudden massive upper gastrointestinal bleeding in a man with cutaneous neurofibromatosis (von Recklinghausen's disease) since childhood prompted endoscopic demonstration of multiple gastric neurofibromas. One source of gastric bleeding removed by endoscopic electrosurgery proved to be a malignant schwannoma (spindle cell sarcoma). A pulmonary schwannoma, multifocal intracerebral spindle cell sarcomas, an extra-adrenal pheochromocytoma, and ocular neurofibromas were other features of this neuroectodermal dysplasia. Neurogenic tumors of the gastrointestinal tract are rare, commonly present with dyspepsia, abdominal pain, anemia, or hemorrhage, and should be suspect in the clinical setting of cutaneous neurofibromatosis. In the patient with systemic neurofibromatosis, endoscopic removal represents a safe method of diagnosis and treatment of bleeding neoplasms in the stomach or duodenum.

Adrenal Gland Neoplasms↗
PubMed1989

Benign brain stem lesions in pediatric patients with neurofibromatosis: case reports.

The symptoms and clinical courses of 4 patients with neurofibromatosis and lesions of the brain stem identifiable on computed tomographic and/or magnetic resonance imaging scans are described. Two patients underwent biopsy and both had low-grade astrocytomas with no evidence of anaplasia. Both received radiation and chemotherapy. The other 2 patients have been monitored without biopsy or treatment. Three patients are alive and clinically stable, having been followed up for an average of 4 years; neuroimaging studies have shown no change in their tumors. The fourth patient died of a supratentorial primitive neuroectodermal tumor. Imaging studies had shown no change in his brain stem lesion, which at autopsy was found to be a focal collection of fibrillary astrocytes. These data suggest that some patients with brain stem lesions and neurofibromatosis may have a prognosis distinctly different from that of the typical patient with a brain stem glioma. We recommend caution against aggressive operative and adjuvant therapy for brain stem lesions in patients with neurofibromatosis, unless progression of the lesion is documented clinically and/or by imaging.

Adolescent↗
PubMed1991

Cervical vertebral artery aneurysms and arteriovenous fistulae in neurofibromatosis type 1: case reports.

Neurofibromatosis is of particular interest to neurosurgeons because of the various central and peripheral nervous system tumors and, more rarely, cervicocerebral arterial lesions associated with the disease. In the present paper, we report two patients with neurofibromatosis Type 1 (von Recklinghausen's disease) who had anomalies of the extracranial vertebral arteries. A large extracranial vertebral artery aneurysm was incidentally discovered in the first patient, a 43-year-old woman, after rupture of a subclavian artery aneurysm. The second patient, a 28-year-old woman, had an enlarging neck mass and was found to have an extensive extracranial vertebral artery arteriovenous fistula. The vascular lesions associated with neurofibromatosis Type 1 in general and those arising from the extracranial vertebral artery in particular are reviewed.

Adult↗
PubMed2001

Early proactive management of vestibular schwannomas in neurofibromatosis type 2.

OBJECTIVE: The treatment of patients with neurofibromatosis Type 2 has always been challenging for neurosurgeons and neurotologists. Guidelines for appropriate management of this devastating disease are controversial. METHODS: A retrospective study of 28 patients with neurofibromatosis Type 2 who underwent 40 middle fossa craniotomies for excision of their acoustic tumors is reported. Eleven patients underwent bilateral procedures. The study focused on hearing preservation and facial nerve results for this group of patients. The 16 male patients and 12 female patients ranged in age (at the time of surgery) from 10 to 70 years, with a mean age of 22.6 years. The mean tumor size was 1.1 cm (range, 0.5-3.2 cm), and the majority of tumors were less than 1.5 cm. RESULTS: Measurable hearing was preserved in 28 ears (70%), with 42.5% being within 15 dB pure-tone average and 15% speech discrimination score of preoperative levels. In 55% of cases there was no change in the hearing class, as defined by the American Academy of Otolaryngology-Head and Neck Surgery. Of the 11 patients who underwent bilateral operations, 9 (82%) retained some hearing bilaterally. After 1-year follow-up periods (mean, 12.8 mo), 87.5% of patients exhibited normal facial nerve function (House-Brackmann Grade I). CONCLUSION: Early surgical intervention to treat acoustic tumors among patients with neurofibromatosis Type 2 is a feasible treatment strategy, with high rates of hearing and facial nerve function preservation.

Adolescent↗
PubMedDate not supplied

Case study: neurofibromatosis.

Neurofibromatosis (Von Recklinghausen disease) is a genetically transmitted, multisystemic disorder characterized by abnormalities of the skin, peripheral nerves, bone, and soft tissue. Symptoms appear early in life and vary with the type and severity of the disease. Care of patients with neurofibromatosis (NF) presents a complex challenge for nursing, the multidisciplinary team, and the family. This article profiles the progression of neurofibromatosis in one girl from birth through adolescence. The author emphasizes that while health care workers ably provide expertise and assistance, the ultimate responsibility for decision making rests with the child and her family.

Adolescent↗
PubMed1976

Juvenile polyposis coli concurrent with neurofibromatosis.

Juvenile polyposis coli associated with neurofibromatosis in a 24-year-old white man is reported. Juvenile polyposis coli is now recognized as a distinct clinical entity. Differentiating it from the other hereditable gastrointestinal polyposis syndromes is important because of the lack of reported malignancies. Radical surgery is unnecessary unless warranted by the clinical features of bleeding or diarrhea. The known gastrointestinal and extra gastrointestinal associations with juvenile polyposis coli are reviewed along with the gastrointestinal manifestations of neurofibromatosis. This is the first reported association of neurofibromatosis with this unusual syndrome.

Adult↗
PubMed1984

Association of carcinoid with neurofibromatosis.

Patients with neurofibromatosis have a predilection for other types of tumors. We have described a case of carcinoid tumor of the ampulla of Vater in a patient with extensive cutaneous neurofibromatosis and visceral involvement limited to the heart. A review of the literature as to the types of tumors associated with neurofibromatosis and of several similar cases suggests that carcinoid tumors should be prominently featured among those found in conjunction with the disease.

Aged↗
PubMed1986

Diffuse interstitial lung disease in neurofibromatosis.

An association of neurofibromatosis with diffuse interstitial lung disease is thought to exist, though there have been relatively few large studies of it. The pulmonary manifestations consist of diffuse interstitial fibrosis or formation of bullae, or a combination of both. Our experience with this disease process during a ten-year period shows slightly less than a 7% incidence of diffuse interstitial lung disease in our patients with neurofibromatosis. We include a case of neurofibromatosis and diffuse lung disease that is somewhat unusual in the formation of bullae in the lower lobe, in contradistinction to its marked upper lobe predominance.

Adolescent↗