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At least 1,477 records · Page 82Linked to original sources
PubMed2006

Prognostic relevance of FDG PET in patients with neurofibromatosis type-1 and malignant peripheral nerve sheath tumours.

PURPOSE: In patients with neurofibromatosis type-1 (NF1) and malignant peripheral nerve sheath tumours (MPNSTs), survival rates are low and time to death is often less than 2 years. However, there are patients with a more favourable prognosis who develop metastases rather late or not at all. Since histopathology and tumour grading are not well correlated with prognosis, we aimed to evaluate the potential of (18)F-fluorodeoxyglucose positron emission tomography (FDG PET) for prediction of patient outcome in MPNST. METHODS: FDG PET was performed in 16 patients with NF1 and MPNSTs. Standardised uptake values (SUVs) were calculated for each tumour and correlated to tumour grade and patient outcome in terms of survival or death. RESULTS: Three patients with tumour grade II had an SUV <3. None of these patients developed metastases or died during a follow-up of 41-62 months. Thirteen patients with tumour grades II and III had an SUV >3. Only one of these patients is still alive after 20 months; the remaining 12 died within 4-33 months. SUV predicted long-term survival with an accuracy of 94%, compared with 69% for tumour grade. In Kaplan-Meier survival analysis, patients with an SUV >3 had a significantly shorter mean survival time, 13 months, than patients with an SUV <3, in whom the mean survival time was 52 months. Tumour grading did not reveal differences in survival time (15 vs 12 months). CONCLUSION: Tumour SUV obtained by FDG PET was a significant parameter for prediction of survival in NF1 patients with MPNSTs while histopathological tumour grading did not predict outcome.

Adolescent↗
PubMedDate not supplied

Mesenteric involvement in neurofibromatosis type 1: CT and MRI findings in two cases.

We report computerized tomographic and magnetic resonance imaging findings of neurofibromatosis type 1 with mesenteric involvement in two patients. The first patient was a 13-year-old female with a panmesenteric plexiform neurofibroma with segmental involvement of the bowel wall; she had a 3-year history of abdominal pain. The second patient was a 60-year-old female who presented with malignant transformation of multiple mesenteric neurofibromas 4 months after primary operation.

Adolescent↗
PubMedDate not supplied

Abdominal involvement in neurofibromatosis 1: sonographic findings.

BACKGROUND: Neurofibromatosis 1 (NF1) has been studied from many viewpoints, but its abdominal involvement has rarely been reported. Sonography (US) is now the initial diagnostic tool for abdominal exploration, which prompted us to determine the clinical manifestations and US findings of abdominal involvement in NF1. METHODS: We analyzed the US findings and clinical data of eight NF1 cases with abdominal involvement. RESULTS: Abdominal involvement included neurofibromatous tumor growth in the liver, mesentery, and retroperitoneum, in addition to mesenteric leiomyomatosis and gastric carcinoma. Color Doppler US was useful not only in detecting blood flows in the lesions but also in preventing hazardous vascular injury during tumor biopsy. CONCLUSION: A better understanding of the clinical manifestations and US findings of abdominal involvement in NF1 translates into improved NF1 patient care.

Abdominal Neoplasms↗
PubMed1997

[Neurofibromatosis type 1 associated arteriopathy. Case report and literature review].

Reported is the case of a 36-year-old man with neurofibromatosis type 1 with lethal haemorrhage from rupture of the left common iliac artery. Histologically and immunohistochemically, no hints on angiodysplasia as a possible cause of bleeding were detected. Considering the literature and the histological findings in the area of rupture, a local weakness of the vascular wall caused by the neighbouring neurofibromatous proliferates was most probably the reason for bleeding.

Adult↗
PubMed2004

Pediatric brain MRI in neurofibromatosis type I.

Neurofibromatosis (NF) is the most common of the phakomatoses, with a prevalence of 1 in 3-4,000. Many organ systems can be affected. In addition to multiple peripheral neurofibromas, NF I predisposed to CNS tumors including optic glioma, astrocytoma and plexiform neurofibroma. The purpose of this pictorial review is to illustrate characteristic brain MR imaging lesions in children with NF I and to give some recommendations about diagnostic imaging procedures in children suffering from NF I. Typical findings in brain MRI are hyperintense lesion on T2-weighted images, so-called unknown bright objects, which may be useful as an additional imaging criterion for NF I. Contrast administration is necessary in MR studies to maximize tumor detection and characterization, to add confidence to the diagnosis of benign probable myelin vacuolization, and to document stability of neoplasm on follow-up examinations. We recommend to perform serial MR imaging in children every 12 months. The frequency of follow-up in children with known brain tumors will vary with the tumor grade, biological activity and treatment.

Adolescent↗
PubMed2006

Magnetization transfer ratio and volumetric analysis of the brain in macrocephalic patients with neurofibromatosis type 1.

The purpose of the study was to evaluate brain myelination by measuring the magnetization transfer ratio (MTR) and to measure grey (GMV) and white matter volume (WMV) in macrocephalic children with neurofibromatosis type 1 (NF1). Seven NF1 patients (aged 0.65-16.67 years) and seven age- and gender-matched controls were studied. A three-dimensional (3D) gradient echo sequence with and without magnetization transfer (MT) prepulse was used for MTR assessment. Volume measurements of GM and WM were performed by applying segmentation techniques on T2-weighted turbo spin echo images (T2WI). MTR of unidentified bright objects (UBOs) on T2WI in cerebellar white matter (52.8+/-3.3), cerebral peduncles (48.5+/-1.5), hippocampus (52.6+/-1.1), internal capsule (55.7+/-0.3), globus pallidus (52.7+/-3.9), and periventricular white matter (52.6+/-1.2) was lower than in the corresponding areas of controls (64.6+/-2.5, 60.8+/-1.3, 56.4+/-0.9, 64.7+/-1.9, 59.2+/-2.3, 63.6+/-1.7, respectively; p<0.05). MTR of normal-appearing brain tissue in patients was not significantly different than in controls. Surface area (mm(2)) of the corpus callosum (809.1+/-62.8), GMV (cm(3)) (850.7+/-42.9), and white matter volume (WMV) (cm(3)) (785.1+/-85.2) were greater in patients than in controls (652.5+/-52.6 mm(2), 611.2+/-92.1 cm(3), 622.5+/-108.7 cm(3), respectively; p<0.05). To conclude, macrocephaly in NF1 patients is related to increased GMV and WMV and corpus callosum enlargement. MTR of UBOs is lower than that of normal brain tissue.

Adolescent↗
PubMed2001

Endotracheal neurofibroma in neurofibromatosis type 1: an unusual manifestation.

Tracheal involvement is an extremely rare manifestation in patients with neurofibromatosis type 1 (NF-1). We present a 33-year-old women with NF-1 suffering from progressive dyspnea. Multislice spiral CT revealed a neurofibroma located within the trachea with intratracheal extension. To our knowledge, this is the first report of an intratracheal neurofibroma which has been documented by CT. This indicates that multislice spiral CT allows accurate demonstration of localization and extent of this rare manifestation of neurofibromas.

Adult↗
PubMed2000

Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings.

A patient with neurofibromatosis type 1 was found to have an enhancing mass in the hypothalamus and in the anterior optic pathway. A 3-month MR study showed a reduction in the size and enhancement of the mass. At a 9-month MR follow-up the mass disappeared and ceased to enhance. This report shows the unusual behaviour of a hypothalamic/chiasmatic mass confirming that in such asymptomatic cases the conservative management can be considered the treatment of choice.

Child, Preschool↗
PubMed1998

[Fluorescein angiography of retinal changes in patients with neurofibromatosis 2].

BACKGROUND: Neurofibromatosis 2 (NF2) is a rare autosomal dominant disorder (prevalence 1:37.000) associated with changes in tumor suppressor genes. Intraocular manifestations have been reported as subcapsular cataract, retinal hamartomas, epiretinal membranes, keratopathy in facial palsy, and tumors of the nerves I-V are typical ocular manifestations of NF2. PATIENTS AND MATERIALS: We prospectively examined 7 patients who met the diagnostic criteria of NF2 with regard to retinal changes using fluorescence angiography and red-free fundus photography. RESULTS: In four patients, we found window defects of the pigment epithelium in the macular or paramacular areas. In one patient we observed a combined pigment epithelial and astrocytic hamartoma. A choked papilla was found in two patients. CONCLUSIONS: Presumably, retinal changes in NF2 occur more frequently than has been assumed previously. Our results confirm that in NF2 patients more attention should be paid to abnormalities of the optic disk, the retina and the choroid.

Fluorescein Angiography↗
PubMed2005

Fatal eosinophilic heart disease in a child with neurofibromatosis-1 complicated by acute lymphoblastic leukemia.

We present a pediatric case of neurofibromatosis-1 (NF-1) complicated by acute lymphoblastic leukemia and hypereosinophilia, which caused multiple end-organ damage. Although clinical symptoms such as fever and coughing were noted only 1 week before admission, the condition deteriorated rapidly with a fatal outcome prior to antileukemic therapy. A postmortem examination demonstrated extensive endomyocardial fibrosis with thrombotic occlusion and recanalization of the coronary arteries. Leukemic cell infiltration was not seen in the cardiac tissue. When eosinophilia is diagnosed in patients with NF-1, eosinophilic end-organ damage, particularly cardiac involvement, in addition to hematological malignancies, should be screened for in order to start medical treatment at the early stage of the disease.

Child, Preschool↗
PubMed2002

A case of intracranial arteriovenous fistula in an infant with neurofibromatosis type 1.

INTRODUCTION: Reported cases of arteriovenous fistula (AVF) with neurofibromatosis type1 (NF1) are rare. CASE REPORT: In this paper we report the first case of intracranial AVF in an NF1 infant who developed heart failure. Endovascular treatment using coils successfully obliterated the AVF. The mechanism underlying the AVF in this case was believed to be a congenital mesenchymal abnormality of the intracranial vessels. DISCUSSION: The mechanism underlying the development of heart failure in this case is also discussed.

Arteriovenous Fistula↗
PubMed2006

Spontaneous regression of optic pathways gliomas in three patients with neurofibromatosis type I and critical review of the literature.

CASE REPORTS: The authors report their experience about three children (two girls, one boy; average age 1.6 years) with a spontaneous regression of optic gliomas. All of them had a previous diagnosis of neurofibromatosis type 1 (NF 1). None of them underwent surgery or biopsy nor received chemotherapy or radiotherapy. The complete regression was documented by MRI scans performed during a mean follow-up of 6.3 years. LITERATURE REVIEW: Moreover, the authors analyze the features of the 16 cases previously reported in English literature of spontaneously regressed optic gliomas with an overview of the different therapeutic strategies. The knowledge that this kind of tumor, particularly in young patients, may regress is important in the decision of the best therapeutic approach.

Child, Preschool↗
PubMed2006

Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up.

INTRODUCTION: Neurofibromatosis type I (NF1) is one of the most prevalent genetic diseases of the nervous system. Although the majority of NF1 patients are only mildly affected, the risk of developing malignancies is significantly increased in this population. CASE REPORT: Here, we present a 9-year-old girl with clinical stigmata of NF1 and a rapidly evolving glioblastoma multiforme. Molecular genetic analysis uncovered a novel missense mutation in Exon 32 of the NF1 gene [c.6032C>A(p.Ala2011Glu)]. DISCUSSION: The girl's death 3 days after diagnosis of the brain tumor exemplifies that NF1 still is a life-threatening disease despite its generally benign course in most patients. However, it remains questionable if a fatal course as reported here can be prevented by routine MRI screening.

Brain Neoplasms↗
PubMed1999

Gliomatosis cerebri with neurofibromatosis: an autopsy-proven case.

Gliomatosis cerebri is a glial neoplastic process that is diffusely distributed through neural structures, whose anatomical configuration remains intact. Among the more than 19,000 cases hospitalized in Istanbul University Istanbul School of Medicine Department of Neurosurgery throughout the past 45 years, only 2 cases were diagnosed as gliomatosis cerebri, 1 by stereotactic ante-mortem diagnosis and the other after autopsy. In this paper, the autopsy-proven case of this rare disease with coexistent neurofibromatosis--the sixth case reported in the literature--is presented.

Adolescent↗
PubMed2001

Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1.

Two children with neurofibromatosis type 1 who presented at birth with congenital pseudarthrosis of the ulna and radius are described. The patients were treated with broad resections. As a consequence, the forearms were reduced in length. The osteotomies were stabilized in one patient first with endomedullary nailing and then with a free vascularized fibular graft. In the second patient the osteotomy was stabilized by external fixation. Using these techniques, rapid and excellent healing and normal function were achieved. In contrast to the lower extremity, reduction of the length of the forearm can be accepted to a certain extent. If necessary, an extension osteotomy can be performed at a later date.

Bone Transplantation↗
PubMed2002

Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.

Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells.

Adolescent↗