Cases reported "Neurofibromatosis 1"

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1/8. Multiple recurrences in malignant peripheral nerve sheath tumor of the orbit: a case report and a review of the literature.

    PURPOSE: To report the onset of malignant peripheral nerve sheath tumor of the orbit 8 years after irradiation in a patient with neurofibromatosis type-1. methods: Case report of a young man with neurofibromatosis type-1 who received irradiation for presumed bilateral optic nerve and chiasmal gliomas and in whom a malignant peripheral nerve sheath tumor later developed. Exenteration with extirpation of the entire contents of the orbit was performed 6 times. RESULTS: Complete recurrence of the tumor occurred after each surgical procedure until the patient died of malignancy. CONCLUSIONS: Our case underscores the risk of irradiation, especially in children with neurofibromatosis type-1, and emphasizes that radiotherapy should never be given as an empirical therapy. The authors believe that irradiation and neurofibromatosis type-1 may, in combination, pose a significant risk for the development of malignancies. Clear-cut indications and a precise tissue diagnosis are desirable before the initiation of radiotherapy, particularly in the pediatric population. We recommend that if irradiation is necessary in persons with neurofibromatosis type-1, regular follow-up is imperative. In view of the hostile nature of malignant peripheral nerve sheath tumor, early aggressive treatment appears to be the only viable alternative at present.
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2/8. Multiple small intestinal stromal tumours in a patient with previously unrecognised neurofibromatosis type 1: immunohistochemical and ultrastructural evaluation.

    Neurofibromatosis type 1 could be associated with multiple gastrointestinal stromal tumours, although their presence is not considered among the major diagnostic criteria. We present here a case of a 50-year-old female complaining of abdominal pain, with about 100 small intestinal stromal tumours. This finding prompted us to suspect a neurofibromatosis which was clinically confirmed afterwards. light microscopy examination revealed a low-grade stromal tumour with skeinoid fibres. Mixed neural-interstitial cells of cajal origin or, alternatively, neural differentiation of interstitial cells of cajal are discussed on the basis of immunophenotype (CD117 , CD34 ) and ultrastructure. A 2-year follow-up did not indicate an aggressive course in the case of this neoplasm.
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3/8. renal artery stenosis and aneurysms associated with neurofibromatosis.

    renal artery lesions associated with neurofibromatosis may involve stenosis and aneurysm formation at all levels of the renal artery to the intraparenchymal branches, and usually are associated with hypertension. A 13-year-old boy with type I neurofibromatosis and severe hypertension presented with multiple aneurysms and multiple stenotic lesions in the renal artery and segmental arteries. The patient underwent ex-vivo renal artery repair with autologous hypogastric artery and autotransplantation to the iliac fossa and was clinically improved. The characteristic histologic findings are presented. A review of the recent literature comparing different treatment modalities for renovascular hypertension in children with neurofibromatosis suggests that surgery remains the best treatment alternative.
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4/8. Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.

    BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, and is inherited in an autosomal dominant pattern. Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of cajal (ICC; the pacemaker cells of the gut). AIM: To characterise two patients with NF1 and GISTs. methods: Two patients were genotyped for germline mutations in NF1. GISTs from both patients were genotyped for somatic mutations in KIT and PDGFRA. loss of heterozygosity (LOH) of NF1 in one GIST was assessed by genotyping seven microsatellite markers spanning 2.39 Mb of the NF1 locus in the tumour and in genomic dna. The known germline mutation in NF1 was confirmed in GIST dna by sequencing. The copy number of the mutated NF1 allele was determined by multiplex ligand-dependent probe amplification. RESULTS: GISTs from both patients were of wild type for mutations in KIT and PDGFRA. In the GIST with adequate dna, all seven markers were informative and showed LOH at the NF1 locus; sequencing of NF1 from that GIST showed no wild-type sequence, suggesting that it was lost in the tumour. Multiplex ligand-dependent probe amplification analysis showed that two copies of all NF1 exons were present. CONCLUSIONS: This is the first evidence of mitotic recombination resulting in a reduction to homozygosity of a germline NF1 mutation in an NF1-associated GIST. We hypothesise that the LOH of NF1 and lack of KIT and PDGFRA mutations are evidence of an alternative pathogenesis in NF1-associated GISTs.
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5/8. Massive neurofibromatosis of the upper extremity with paralysis.

    tendon transfer and bulk reduction procedures are an alternative to amputation of the elephantoid enlarged limb with neurofibromatosis and paralysis. A patient with this progressive disease has been followed-up for 10 years and retains sufficient function to work as a computer operator.
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6/8. Familial neurofibromatosis and hypertrophic cardiomyopathy.

    Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in neurofibromatosis can cause secondary ventricular hypertrophy with septal involvement.
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7/8. Congenital pseudarthrosis of the ulna: a report of two cases and a review of the literature.

    Two cases of congenital pseudarthrosis of the ulna in patients with neurofibromatosis were followed up for 15 and 8 years, respectively. In both cases conventional bone grafting failed. The solution in one case was production of a one-bone forearm. In the other, osteotomy of the radius, resection of the ulnar pseudarthrosis, and stabilization of the distal radioulnar joint achieved a good result. The literature suggests that free vascularized bone grafting, electrical stimulation, formation of a one-bone forearm, or osteotomy of the uninvolved bone with or without resection of the pseudarthrosis should be considered as treatment alternatives.
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8/8. Correction of a dystrophic cervicothoracic spine deformity in Recklinghausen's disease.

    A case is presented of a 14-year-old boy with neurofibromatosis who had a 92 degrees dystrophic kyphosis (as measured on radiographs between C3 and C7) of the cervical spine. He was treated successfully by posterior stabilization and anterior fusion using a free vascularized fibula graft. This method appears to be an attractive alternative to an avascular fibula graft and avoids the risk of graft resorption (creeping substitution), weakening (fracture), or nonunion during the process of bony consolidation. It provides a stable and longstanding anterior strut, essential in the management of high grades of kyphosis. At 1-year followup the patient has no symptoms, is fully mobile, and shows radiographically complete incorporation of the graft with no loss of correction.
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