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 271 records · Page 15Linked to original sources
PubMed1993

Malignant cutaneous melanoma associated with neurofibromatosis in two sisters from a family with familial atypical multiple mole melanoma syndrome. Case reports and review of the literature.

Two cases of malignant melanoma associated with neurofibromatosis in two first-degree female relatives from a family with familial atypical multiple mole melanoma (FAMMM) syndrome are presented. The types of neurofibromatosis and the FAMMM syndrome are discussed in relation to these cases and the family genealogic tree. Although the FAMMM syndrome could probably be seen as the underlying disease in the current cases, review of literature has failed to establish a clear relation. Research into pigmentary disturbance in neurofibromatosis is necessary to give a final explanation. To our knowledge, this is the first report in literature describing the familial occurrence of both diseases and it might present an addition to the tumor spectrum in the FAMMM syndrome.

Adult↗
PubMed1995

Cutaneous plexiform schwannoma associated with neurofibromatosis type 2.

BACKGROUND: Plexiform schwannoma (PS) is a rare benign tumor of the nerve sheath that can be located either in the deep soft tissues or in the dermis or subcutis. The tumor predominantly affects young adults and occurs most commonly as a slowly growing asymptomatic solitary nodule in the head and neck region, trunk, and upper extremities. METHODS: A cutaneous PS located in the preauricular region of a 19-year-old white female is reported. The patient exhibited six "café-au-lait" spots in the trunk and the extremities. Magnetic resonance imaging examination showed bilateral tumors in both acoustic nerves (considered schwannomas) and also masses in the right major sphenoidal wing, falx, and T2-T3 level of rachis and a solid and cystic tumor in the low medulla oblongata. Tumors of the preauricular region, medulla oblongata, spinal cord at level T2-T3, and major sphenoidal wing area were surgically removed. The tumors were studied by immunohistochemistry and diagnosed as PS, pilocytic astrocytoma, and meningiomas, respectively. RESULTS: Seventy-eight cases of PS have been reported in the literature: 8 (10.2%) have been associated with clinical schwannomatosis, 6 (7.7%) with multiple cutaneous schwannomas syndrome, and only 3 (3.8%) with neurofibromatosis type 1 (NF-1). CONCLUSIONS: In this report, to the authors' knowledge, for the first time PS is described associated with neurofibromatosis type 2. The tumor does not appear to have significant association with NF-1. Plexiform schwannoma should be recognized because it may be misdiagnosed as plexiform neurofibroma or other plexiform malignant tumors. Differentiation from plexiform neurofibroma is important, because the latter is virtually pathognomonic of neurofibromatosis type 1 and has a propensity for malignant transformation.

Adult↗
PubMed1985

Noonan phenotype associated with neurofibromatosis.

We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness. No family history of neurofibromatosis was present in any case. Average paternal and maternal age at birth was 37 and 28 years, respectively, suggestive of a new mutation. The presence of a distinct phenotype and hypotonia in these patients with neurofibromatosis is suggestive of a new separate disorder.

Adult↗
PubMed1988

Neurofibromatosis with fully expressed Noonan syndrome.

We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family.

Abnormalities, Multiple↗
PubMed2006

Pilomyxoid astrocytoma in a patient with neurofibromatosis.

Pilomyxoid astrocytoma (PMA), a recently described variant of low-grade astrocytoma is associated with a high rate of recurrence and a propensity for CSF seeding. While cases of PMA have been reported in infants and young children, there has been no report of PMA in patients with neurofibromatosis. The first reportable case of PMA occurring in a child with neurofibromatosis type 1 (NF1) is described. Following presentation with obstructive hydrocephalus, the patient underwent a partial resection of a third ventricular tumor. Histology confirmed the typical features of PMA. The patient demonstrated a partial response to chemotherapy. The authors review the literature on PMA and discuss the specific issues associated with this diagnosis in the context of a child with neurofibromatosis.

Astrocytoma↗
PubMed2007

Hepatoblastoma in a child with neurofibromatosis type I.

A major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1. We present a case of a 9-month-old boy diagnosed with both hepatoblastoma and neurofibromatosis type 1. Hepatoblastoma occurs in association with several well-described cancer predisposition syndromes, including familial adenomatous polyposis, Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, trisomy 18, and glycogen storage disease type I. This paper describes a case of hepatoblastoma diagnosed in association with neurofibromatosis type 1.

Biomarkers, Tumor↗
PubMed1984

Richards-Rundle syndrome, cochleovestibular dysfunction and neurofibromatosis in a family.

The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.

Acoustic Impedance Tests↗
PubMed1978

Extracranial vertebral aneurysm with neurofibromatosis.

With neurofibromatosis neuromas of the cranial and cervical nerves are common findings and meningiomas and ependymonas appear more often than in the average population. Vascular manifestations of the disease are also commonly known in the renal and gastrointestinal vessels but rarely in the large cerebral arteries. The case of a 50 year old man with neurofibromatosis and a vertebral aneurysm is reported. The plain X-ray of the cervical spine and the Pantopaque myelogram were compatible with a cervical neuroma and the patient was operated but a large aneurysm of the vertebral artery was found. The operation was discontinued and vertebral angiography was performed revealing a large saccular aneurysm which war excised. This aneurysm is most probably a manifestation of vascular disease with neurofibromatosis.

Aneurysm↗
PubMed1995

Thoracic and lumbar meningocele in neurofibromatosis type 1. Report of two cases and review of the literature.

We report two cases of ventrolateral thoracic and lumbar meningoceles associated with neurofibromatosis type 1, and present a review of the literature. Thoracic and lumbar meningoceles are rare lesions which are associated with neurofibromatosis in 60% to 85% of cases. Large meningoceles may cause pain, neurological signs, or respiratory complaints when located intrathoracically. Surgery is indicated in such cases, as well as when small meningoceles enlarge with time. The etiology of meningoceles in neurofibromatosis remains controversial. The authors postulate that ventrolateral lesions of the thoracic and lumbar spine are secondary to congenital mesodermal dysplasia and hypoplastic bone changes. MRI is the diagnostic method of choice, since it most adequately visualizes the pathological anatomy of the spinal cord, meninges, and adjacent structures in every sectional plane. CT scans are particularly useful in assessing the spinal bony changes.

Adult↗
PubMed1981

Collagen synthesis in cells cultured from v. Recklinghausen's neurofibromatosis.

Subcutaneous tumors of a patient with v. Recklinghausen's neurofibromatosis contained about 31% collagen calculated on the basis of lipid-free dry weight. Slices of the tumors synthesized collagen at a rate (4.7-8.5% from total protein) which was higher than that of the skin slices (2.8-5.9%). Neurofibromatosis cells were cultured from tumors of two patients. They synthesized relatively much more collagen than cultures of skin fibroblasts of the same patient or of healthy age-matched control persons. The second patient's cultures were studied in detail. The cell densities of these cultures were higher and expressed more variation than the densities of control skin fibroblasts. Ion exchange cellulose chromatograms, SDS-polyacrylamide gel electrophoresis and 3-hydroxyproline analysis of the radioactive proteins made by the cultures indicate that most of the collagenous proteins resembled type I collagen. High proliferative capacity and high collagen synthesis of selected neurofibromatosis cells explains the growth of solid tumors.

Cells, Cultured↗
PubMed1975

On the mutation rate of neurofibromatosis.

A genetic study of 124 cases of neurofibromatosis was performed. The contingent of probands was mainly represented by a Russian population, most of the individuals being born in the European part of the RSFSR. Both parents of the probands were examined in only 58 cases, the proportion of sporadic cases in this group being 0.79, as compared to 0.77 for the whole group under study. The existing data evaluated by a direct method are not yet sufficient for a decisive estimation of the penetrance, which, however, cannot be under 80%. Segregation analysis of descendants from particular marriages showed a good correspondance to the hypothesis of Mendelian dominance (32 affected children out of 65). These results analyzed together with those obtained by other authors permit an inference on the full penetrance of neurofibromatosis. The genetic interpretation of sporadic cases as a result of new mutations is presented. The prevalence of neurofibromatosis among the 16-year-old youths was evaluated as 12.8 with 10-(5). This value is suggested to be an estimation of the incidence of the condition in the general population, the mutation rate evaluated by a direct method being equal to 4.4 with 10-(5) divided by 4.9 with 10-minus 5. The increased birth order of probands in sporadic cases (against the theoretical expectation) as well as increased paternal age (as compared with controls) were found to be statistically significant (P equals 0.004 and P equals 0.03, respectively) while the difference in maternal ages was statistically insignificant (P equals 0.008). No statistical relationship between sporadic cases and occupational exposure of parents to deleterious chemical and physical factors was found.

Adult↗
PubMed1976

Neurofibromatosis involving the lower urinary tract in children. A report of three cases and a review of the literature.

Three children with neurofibromatosis involving the lower urinary tract are reported and their clinical, radiological and pathological findings are described. Lower urinary tract involvement in neurofibromatosis has previously been reported in 17 children, 12 of whom had other stigmata of von Recklinghausens disease. Lower urinary tract involvement may be asymptomatic and can be found incidentally. Every case with neurofibromatosis presenting with what may appear to be even only insignificant urinary symptoms should be thoroughly investigated urologically. Symptoms are usually related to urinary tract obstruction or neurogenic bladder dysfunction due to the involvement of the nerves supplying the bladder. Urinary diversion is the treatment of choice as surgical removal of the extensive tumour is seldom feasible. Following treatment the prognosis for survival appears to be good.

Child, Preschool↗
PubMed1997

The effects of simple trauma on patients with cervical spine neurofibromatosis: two case reports.

Von Recklinghausen's disease of the cervical spine is rare. Spinal deformities appear to occur only in peripheral neurofibromatosis as opposed to central neurofibromatosis, and such deformities include non-dystrophic and dystrophic changes. We describe two patients with neurofibromatosis of the cervical spine who were subjects of simple trauma, one of whom demonstrated dystrophic and the other non-dystrophic changes. The first presented with acute upper cervical spine instability and subluxation, the second with cervical myelopathy. The purpose of this article is to heighten the physician's awareness that such patients have inherent pathology in the cervical spine such that simple trauma can have serious neurological consequences.

Adult↗
PubMed1994

Neurofibromatosis presenting as a severe systemic vasculopathy.

In a boy with neurofibromatosis type 1 (NF-1), hypertension, septic infection of an aneurysm in the deltoid muscle, bowel infarction, multiple arterial aneurysms and venous thrombosis occurred within a period of 6 weeks. Histologically, vascular neurofibromatosis of the small vessels of the gut was found. This unusual occurrence of a multitude of clinical features within a few weeks was caused by vascular neurofibromatosis. Awareness of this condition in patients with NF-1 may help the paediatrician to avoid unnecessary diagnostic procedures and to initiate appropriate symptomatic therapy.

Arteries↗
PubMed1985

Neurofibromatosis of the bladder.

Neurofibromatosis of the urinary tract is estimated to account for 20 per cent of the visceral manifestations of the generalized disease. Among its urological forms involvement of the bladder is the most common. Clinically, neurofibromatosis resembles a tumour, therefore, its early histologic diagnosis is of utmost importance. In the present case a tumour involving the posterior bladder wall was found in a 6 years old boy subjected to examination because of a terminal haematuria. First the tumour was resected, later cystectomy with implantation of the distended ureter into the sigmoid was undertaken because of progression of the tumour. Postoperative hypokalaemia responded to the usual medication. Ureteral distension was reversed by the operation. Though neurofibromatosis (NF) is histologically a benign process, it tends to recur, is invasive, and impairs urinary functions. Therefore, it may endanger life and thus requires cystectomy with surgery for urinary diversion.

Child↗
PubMed1983

Choroidal ganglioneuroma in neurofibromatosis.

A twenty-one year old female with previously unsuspected neurofibromatosis presented for evaluation of a blind painful eye. Histopathologic examination of the enucleated specimen revealed choroidal thickening with ovoid bodies and proliferation of connective tissue with pigment-containing cells and ganglion-like cells. Electron microscopic study of the latter cell population revealed typical morphologic features of ganglion cells, including numerous electron-dense intracellular granules and an abundance of mitochondria and rough endoplasmic reticulum. These pathologic findings were interpreted as consistent with the diagnosis of choroidal ganglioneuroma occurring in the context of ocular neurofibromatosis. The literature concerning this unusual tumor is reviewed and the possible relationship of this lesion to neurofibromatosis and other disorders of neural cresent proliferation are briefly discussed.

Adult↗
PubMed1990

Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis.

Neurofibromatosis is sometimes complicated by impaired renal tubular reabsorption of phosphate, hypophosphatemia, and osteomalacia. Hyperparathyroidism has also been reported in patients with neurofibromatosis. When hypercalcemia and elevated levels of parathyroid hormone are found in osteomalacia, however, it may be difficult to determine if the hyperparathyroidism was primary or tertiary. We describe a patient with neurofibromatosis, hypercalcemic hyperparathyroidism, hypophosphatemic osteomalacia, vitamin D deficiency, and clear-cell hyperplasia of all four parathyroid glands. Serial biomechanical, bone biopsy, and densitometric studies confirmed that treatment with ergocalciferol, calcium, and phosphate supplements significantly improved the osteomalacia but caused increased parathyroid overactivity. After subtotal parathyroidectomy, the parathyroid hormone concentration became normal and the bone mineral content increased at the spine and hip, but inappropriate phosphaturia persisted. The findings indicate that hyperparathyroidism, osteomalacia, and vitamin D deficiency adversely affect each other.

Bone and Bones↗
PubMed2001

Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk.

UNLABELLED: A 5-year-old girl presented with multiple tumours of the central nervous system. As on the first MRI scan bilateral vestibular schwannomas were not detected due to their small size, she initially did not meet the criteria for neurofibromatosis type 2 (NF2), although her clinical symptoms were highly suggestive for the diagnosis. Using molecular studies, a mutation in the NF2 gene was found confirming the clinical suspicion at an early age and indicating the value of molecular analysis. Follow-up MRI 3 years later demonstrated bilateral vestibular schwannomas more clearly, since they had increased in size. CONCLUSION: In children, magnetic resonance imaging can be inconclusive for the diagnosis of neurofibromatosis type 2, since very small vestibular schwannomas may be missed. In these cases molecular studies may provide additional evidence for the diagnosis. We propose guidelines for a screening protocol for children at risk for having neurofibromatosis type 2.

Brain Neoplasms↗