Cases reported "Neurofibromatosis 1"

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1/271. E.N.T. manifestations of Von Recklinghausen's disease.

    Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.
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ranking = 1
keywords = nerve
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2/271. Iridocorneal melanoma associated with type 1 neurofibromatosis: a clinicopathologic study.

    OBJECTIVE: A clinicopathologic study of an iridocorneal melanoma associated with type 1 (peripheral) neurofibromatosis is presented. DESIGN: Case report with clinicopathologic correlation. PARTICIPANT: A 32-year-old white woman with type 1 neurofibromatosis presented with long-standing blindness of her right eye due to diffuse intrastromal brown corneal discoloration. INTERVENTION: The patient underwent penetrating keratoplasty and the corneal button was inspected. RESULTS: Histopathologic evaluation of the corneal button after penetrating keratoplasty revealed an intrastromal mixed-type malignant melanoma, which stained positively with HMB-45 and S-100 protein and spared the corneal epithelium and limbus. The corneal graft remained transparent, with best-corrected visual acuity of 20/30. Twenty-two months after surgery, the tumor involved the anterior chamber angle and the iris. Three years later, it caused refractory glaucoma necessitating enucleation. The iris tumor did not extend beyond the iris-lens diaphragm and showed the same cytologic features as the corneal stromal tumor. CONCLUSION: To our best knowledge, this is the first report of iridocorneal melanoma associated with peripheral neurofibromatosis. The location of the tumor in the deep corneal stroma, without initial macroscopic involvement of the angle or iris, may suggest that the corneal portion of the tumor may have developed "in situ" rather than as an extension of iris melanoma. The common origin of melanoma cells and schwann cells from the neural crest and the proliferation of the schwann cells in neurofibromatosis provides additional support for this hypothesis.
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ranking = 17.522698751159
keywords = peripheral
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3/271. Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility.

    At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients.
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keywords = nerve
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4/271. Neurofibromatous ureteral obstruction relieved by sigmoid conduit cystoplasty.

    Neurofibromatosis is a neural disease of hereditary nature affecting both sexes of all races. Visceral and central nervous system involvement can cause serious interference with normal function of affected structures. Under these circumstances, lifelong observation and individualized treatment of the patient are essential to proper management. This report is an account of nearly 2 decades of conservative management of neurofibromatosis of the pelvis in a young woman. Progressive, bilateral ureteral obstruction developed but normal function of the urinary tract has been maintained for the last 10 years with a sigmoid conduit cystoplasty. It is anticipated that continued progression of the disease will require cutaneous transfer of the sigmoid conduit. Also, a colostomy might become necessary because of recent evidence of rectal obstruction noted on computed tomography.
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ranking = 0.36982446334369
keywords = nervous system
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5/271. Malignant peripheral nerve sheath tumour in the maxilla associated with von Recklinghausen's disease.

    Malignant transformation of neurofibromatosis is one of the most serious complications of von Recklinghausen's disease (VRD). The most common associated malignancy is the malignant peripheral nerve sheath tumour (MPNST). Few cases of MPNST associated with VRD in the maxillary region have been reported. This report describes a rare case of MPNST in the maxilla and the aggressive nature of MPNST associated with VRD.
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ranking = 432.89754366394
keywords = peripheral nerve, peripheral, nerve
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6/271. Somatic mosaicism of a greater than 1.7-Mb deletion of genomic dna involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.

    We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridization using the cosmids CO919 from the 5' region, GO2121 from the central, H10410 from the 3' region of the NF1 gene, and the 1.7-Mb YAC 947G11 spanning the entire 350-kb genomic dna of the NF1 gene. The deletion was present in 33% of peripheral blood lymphocytes and 58% of fibroblasts. The clinical manifestations in this 6-year-old male patient were especially severe and extended beyond the typical features of NF1. The patient also displayed facial anomalies, severe and early-onset psychomotor retardation, seizures, spasticity, and microcephaly. These features differ from other large-deletion NF1 patients, even nonmosaic cases. The complex phenotype could be explained by the involvement of coding sequences flanking the NF1 gene, thus supporting the existence of a contiguous gene syndrome in 17q11.2.
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ranking = 8.7613493755796
keywords = peripheral
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7/271. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

    Neurofibromatosis type 1 (NF1) is one of the commonest autosomal dominant disorders in man. It is characterised by cafe au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, skeletal dysplasia, and optic glioma. Symptomatic brain tumours occur in 1.5-2.2% of patients with NF1. We report here a family where seven members developed brain tumours. Of these, three have a clinical history strongly suggestive of NF1, while two do not fulfil diagnostic criteria for the disorder. A splice site mutation in exon 29 of the NF1 gene was found in these two subjects. This lesion is thought to be disease causative since it creates a frameshift and a premature termination of the neurofibromin protein. Different hypotheses to explain the unusual recurrence of brain tumours in this family, such as the nature of the mutation or cosegregation of other predisposing genes, are discussed.
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ranking = 8.7613493755796
keywords = peripheral
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8/271. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease.

    A patient with von Recklinghausen's disease died with a malignant schwannoma of the stomach and was found at autopsy to have neurofibromatosis of the gastrointestinal tract, a plexiform neurofibroma of the myocardium and a phaechromocytoma. Malignancy of the gastrointestinal tract in von Recklinghausen's disease is rare, and this case highlights the difficulties in histological diagnosis of malignant nerve sheath tumours.
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keywords = nerve
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9/271. Bilateral diaphragm paralysis secondary to central von Recklinghausen's disease.

    Bilateral paralysis of the diaphragm is either idiopathic or associated with several medical conditions, including trauma or thoracic surgery, viral infections, and neurologic congenital or degenerative disorders. We describe the case of a 36-year-old man with a history of neurofibromatosis who developed severe bilateral diaphragmatic paralysis from involvement of the phrenic nerve roots with neurofibromas. The patient manifested progressive exertional dyspnea and debilitating orthopnea requiring the use of noninvasive mechanical ventilation at night. A review of the literature reveals that neurofibromatosis is an unrecognized cause of diaphragmatic paralysis.
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keywords = nerve
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10/271. association between cutaneous melanoma and neurofibromatosis type 1: analysis of three clinical cases and review of the literature.

    The authors report a rare association between cutaneous melanoma and Von Recklinghausen's disease (NF-1) and analyze the possible meaning of this occurrence. Various types of tumors have been associated with NF-1, in particular those of neuroectodermal origin, such as malignant peripheral nerve sheath tumors (MPNST) and phaeochromocytoma. The development of malignant melanoma in NF-1 patients is rare. Data from the literature is enable to demonstrate an increased incidence of cutaneous melanoma in patients with neurofibromatosis but the association of these two disorders seems reasonable in theory, as both are abnormalities of a neural crest origin. The cases described may represent not only a clinical report of two rarely associated disorders, but may also confirm the biological mechanisms responsible for these infrequent diseases.
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ranking = 86.579508732788
keywords = peripheral nerve, peripheral, nerve
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