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PubMed2001

Neurofibromatosis involving the urinary bladder.

We present two interesting cases of a 24-year-old man and a 14-year-old boy, uncle and nephew, with lower urinary tract symptoms, café au lait patches and subcutaneous nodules. Ultrasonography and computed tomography scans showed a large, irregular lobulated soft tissue mass between the bladder and sacrum. Cystoscopy, laparotomy and biopsies revealed neurofibromatosis involving the urinary bladder. No enlargement of the tumor or upper urinary tract obstruction has occurred during the long-term follow up. We recommend meticulous follow up of patients with giant intrapelvic neurofibromatosis.

Adolescent↗
PubMed1998

Radial artery aneurysm in a case of neurofibromatosis.

Vasculopathy as part of the syndrome of neurofibromatosis is well recognised, although rarely identified clinically. A recent report describes a case with rupture of an aneurysm of the superficial femoral artery. We present a case of radial artery aneurysm, a previously unreported complication of neurofibromatosis affecting the upper limb.

Aneurysm↗
PubMed2001

Isolated bilateral orbital neurofibromatosis in a twelve-year-old.

A patient with bilateral orbital neurofibromatosis is described. This patient had no other dysmorphic features and no systemic stigmata indicative of Von Recklinghausen's disease or endocrine syndromes. To our knowledge, this is the first report in the literature of isolated bilateral orbital neurofibromatosis in an otherwise normal patient.

Blepharoptosis↗
PubMed1998

[Neurofibromatosis versus schwannomatosis].

Neurofibromatosis Type 1 and 2 (NF1 und NF2) are different forms of neurofibromatosis, well defined both clinically and genetically. In absence of typical clinical features of NF1 (café-au-lait-spots, cutaneous neurofibromas, Lisch-nodules) or NF2 (vestibular schwanoma) clinical classification is often not possible. Neurofibromas are more common in NF1 and schwannomas are typical for NF2, but pathological histology does not provide sufficient evidence for diagnosis. We describe 14 patients who presented with the clinical picture of multiple spinal tumours. Detailed family history, exact clinical examination including an ophthalmological examination led to the diagnosis of NF2 in four cases. Mutation analysis confirmed the diagnosis of NF2 in one case by identification of a 163 base pair deletion in the NF2 transcript. To investigate the expression of schwannomin and neurofibromin we stained tumour paraffin sections of six patients with antibodies against peptides of the NF1 and the NF2 protein. Based on preserved immunoreactivities we were able to exclude diagnosis of NF1 in three and NF2 in two cases. In four patients the clinical symptoms could confirm the diagnosis of schwannomatosis. Combining the results of clinical, neurogenetical and immunohistochemical examinations we could diagnose NF1 or NF2 in ten patients in total. Immunoreactivity led to the suggestion of NF2 in two patients; the other two patients whose tumours were not stained so far, could as yet not be classified for NF.

Adult↗
PubMed1993

The spectrum of neurofibromatosis: neurologic manifestations with malignant transformation.

Neurofibromatosis is an uncommon cause of tetraplegia. Spinal cord compression in association with brachial plexus involvement is rare. A case of neurofibromatosis with malignant transformation illustrates the neurologic features associated with this condition. Malignant transformation of a neurofibroma should always be considered in patients with recurrent lesions or progressive neurologic dysfunction.

Adult↗
PubMedDate not supplied

No aberrant methylation of neurofibromatosis 1 gene (NF1) promoter in pilocytic astrocytoma in childhood.

Tumors of the central nervous system are the most frequent solid tumors in childhood. With 30-40% of this heterogenous group, low-grade astrocytomas represent the most common subtype. Neurofibromatosis type 1 (NF1) is strongly associated with the development of pilocytic astrocytoma (PA), frequently appearing as optic glioma. Neurofibromatosis 1 gene (NF1 ) fulfills the criteria of a tumor suppressor gene and is deleted or mutated heterozygously in patients with NF1. This suggests an involvement in the development of PA. To clarify whether silencing of NF1 by promoter methylation plays a role in PA and especially in optic glioma, the authors investigated the methylation status in 30 PA, 6 of which had optic glioma. However, no methylation was found at the NF1 promoter region in PA. To rule out that silencing of NF1 by promoter methylation is restricted to higher-grade astrocytomas, 15 pediatric WHO II degree and IV degree astrocytomas were analyzed: 12 astrocytomas II and 3 glioblastomas displayed no NF1 promoter methylation. The authors conclude that NF1 silencing by methylation plays no role in low-grade astrocytoma.

Adolescent↗
PubMed1994

Multiple recurrent benign schwannomas of deep and superficial nerves of the upper extremity: a new variant of segmental neurofibromatosis.

Benign schwannomas of the brachial plexus are uncommon tumors, first described in the late 19th century. These lesions, which are histologically benign, can generally be excised without sacrifice of neural elements. We present the first known case of multiple concurrent and recurrent benign schwannomas of the upper extremity in an individual who demonstrated no other evidence of neurofibromatosis, and we suggest that this case may represent a new subtype of type V neurofibromatosis.

Adult↗
PubMed1996

The surgical management of cranio-orbital neurofibromatosis.

Experience with the surgical management of cranio-orbital neurofibromatosis in 14 patients is reported (age range, 6-40 years). The skeletal abnormality of the orbit that occurs in a small proportion (less than 1%) of patients with neurofibromatosis is, in essence, the absence of the membranous portions of the sphenoid and the adjacent bone forming the boundaries between the cranium and the orbit. The goal of surgery is tumor resection and reconstruction of the posterior bony defect by bone graft. Two additional procedures are also described that better enhance aesthetically-the mask lift and facial tissue expansion.

Adolescent↗
PubMed1999

Tc-99m DTPA used as reference imaging to evaluate the distribution of other tumor-seeking tracers in tumors associated with neurofibromatosis.

Two patients with multiple benign and malignant tumors associated with neurofibromatosis underwent radionuclide imaging with Tc-99m DTPA, Tl-201, and Ga-67. In these patients, Tc-99m DTPA accumulated intensively in both the benign and malignant tumors and localized and defined the extent of every tumor. In contrast, Ga-67 and Tl-201 uptake was seen only in focal areas of tumor where there was malignant transformation or at sites that showed progressive tumor growth. Tc-99m DTPA imaging accurately demonstrated areas of neoplastic involvement and identified the areas that would be seen with the other two tracers in individual tumors. Tc-99m DTPA may not always be used for the differential diagnosis of malignant and benign tumors of neurofibromatosis, but it can provide a reference pattern for imaging to evaluate accurately the distribution of Tl-201 and Ga-67 by mapping out the anatomic extent of these tumors.

Adolescent↗
PubMed1994

Deterioration of operative correction in dystrophic spinal neurofibromatosis.

STUDY DESIGN: Of 28 patients with dystrophic spinal deformity resulting from neurofibromatosis who were treated surgically since 1968, 25 were studied regarding the outcome of spinal deformity at a mean follow-up of 9.7 years after surgery (mean age at follow-up, 21.5 years). OBJECTIVES: This study sought factors that contribute to curve deterioration despite successful spinal fusion for dystrophic spinal deformity in patients with neurofibromatosis. SUMMARY OF BACKGROUND DATA/METHODS: All patients had the following radiographs: standing anteroposterior and lateral, lateral bending, flexion and extension views of the spine, and radiographs of both tibiae. Patients who had large peripheral neurofibromata or evidence of long-bone deformity at other sites had radiographs of these anatomic regions. Spinal radiographs obtained pre-operatively, 6-12 months post-operatively, and at final follow-up were measured for spinal curvatures, vertebral height, and vertebral and disc wedging. RESULTS: For analysis, the patients were divided into three groups according to deformity: 1) scoliosis, 2) ky-phoscoliosis (with kyphosis > 50 degrees) and 3) hyperkyphosis (with kyphosis > 50 degrees and sharply angulated over three vertebrae). Mean deterioration was: scoliotic group, 12 degrees (range, 0 degree-52 degrees); kyphoscoliotic group, 7 degrees (range, 0 degree-35 degrees); hyperkyphosis group, 38 degrees (range, 20 degrees-60 degrees). All patients in the latter group had anterior and posterior spinal fusion. CONCLUSION: Spinal deformity in these patients tended to progress despite the achievement of spine arthrodesis in those with hyperkyphosis and short curves. The study shows that vertebral subluxation, disc wedging, and peripheral skeletal dystrophy are additional prognostic features that predict the progression of deformity after arthrodesis of the spine.

Adult↗
PubMedDate not supplied

Neurofibromatosis update.

Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifacted disorders and may present with a wide range of clinical manifestations, including abnormalities of the skin, nervous tissue, bones, and soft tissues. The condition can be conclusively diagnosed when 2 of 7 criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopedic problems. For those with musculoskeletal involvement, the most important issue is early recognition. Spinal deformity, congenital tibial dysplasia (congenital bowing and pseudarthrosis), and disorders of excessive bone and soft-tissue growth are the three types of musculoskeletal manifestitations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database of 588 patients show the incidence of spinal deformity in children with NF-1 to be 21%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopedic complications can be managed, but only rarely are they cured. Current developments in molecular genetics are exciting and give hope to more positive outcomes.

Bone Diseases, Developmental↗
PubMed1992

Neurofibromatosis of the vulva.

Neurofibromatosis can be very variable in its expression. A case of neurofibromatosis presenting with vulval lesions is described.

Adult↗
PubMed1990

Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases.

Clinical and genetic data of 10 patients with neurofibromatosis 2 (NF-2) are presented. Interestingly, no family history of neurofibromatosis was detectable in any of them, which indicates that these are sporadic cases of NF-2, most likely due to a new mutational event. According to our own results and the data in the literature, sporadic cases of NF-2 are clinically characterized by a high incidence of multiple meningiomas and spinal tumors in addition to the bilateral occurrence of acoustic neurinomas. The clinical heterogeneity of NF-2 is pointed out and the possible existence of different forms of this disease is discussed.

Adolescent↗
PubMedDate not supplied

Gastrointestinal haemorrhage complicating small bowel neurofibromatosis.

A case of acute gastrointestinal haemorrhage in a patient with systemic neurofibromatosis is presented. The bleeding was localized using mesenteric angiography and small bowel enema to a segment of ileum with multiple smooth muscle neurofibromata. The patient had a complete recovery after the resection and remained asymptomatic at 2 years follow up. Small bowel neurofibromatosis is a rare but important differential in gastrointestinal haemorrhage. Early diagnosis and surgery are vital for patient survival.

Acute Disease↗
PubMed2005

Neurofibromatosis of atypical presentation.

Neurofibromatosis (NF) is considered to be a heterogeneous neuroectodermal disease clinically defined by the presence of neurofibromas, multiple café-au-lait spots, intertriginous freckles and Lisch nodules. Mosaicism explains atypical presentations of the disease. Early mutations, before tissue differentiation, give rise to generalized disease. We report an atypical presentation of neurofibromatosis with an unusual distribution of neurofibromas, a peculiar, clinically and pathologically, neurofibroma on the trunk and the association with an ovarian serous cystoadenofibroma.

Biopsy, Needle↗
PubMed2002

Plasticity of pheochromocytoma cell lines from neurofibromatosis knockout mice.

Adrenergic mouse pheochromocytoma (MPC) cells from heterozygous neurofibromatosis knockout mice show little or no expression of the NGF receptor trk A and do not undergo neuronal differentiation in response to NGF. However, they express high levels of receptor tyrosine kinase, Ret, and GDNF family receptor alpha(1) (GFRalpha(1)) in vivo and in vitro and respond to glial cell line-derived neurotrophic factor (GDNF). In addition, they form short processes in response to PACAP or cyclic AMP. Morphological effects of GDNF, PACAP, or cyclic AMP are similar to those of NGF, PACAP, or cyclic AMP on PC12 cells, and all three agents cause downregulation of PNMT mRNA. The MAP kinase kinase inhibitor U0126 inhibits both baseline proliferation and stimulated process outgrowth, consistent with a model in which sustained low-level ERK activation drives proliferation, and more intense activation drives neuronal differentiation. The sensitivity of MPC cells to U0126 both may reflect mechanisms that cause pheochromocytomas in neurofibromatosis and aid in their clarification.

Animals↗
PubMed1995

Neurofibromatosis and insulinoma.

A 45-year-old man with neurofibromatosis presented with recurrent seizures due to hypoglycaemia caused by an insulinoma. The attacks were abolished after the successful removal of the insulinoma. This probably represents another example of the association between neurofibromatosis and a tumour consisting of cells with amine-precursor-uptake and decarboxylation.

Humans↗