Cases reported "Neurofibromatosis 1"

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1/1096. Cranio-orbital-temporal neurofibromatosis: are we treating the whole problem?

    Cranio-orbital-temporal neurofibromatosis is an uncommon subtype of neurofibromatosis 1 characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit. The cause of the sphenoid wing dysplasia is uncertain. Reconstruction of the sphenoid defect, separating the orbit and cranial vault, has been problematic because of resorption of bone grafts. This reports illustrates one potential cause of the sphenoid defect and a possible cause of the bone graft resorption.
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ranking = 1
keywords = neurofibroma
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2/1096. Therapy-related myelodysplastic syndrome in adults with neurofibromatosis.

    Although an increased risk of hematologic malignancies in children with Neurofibromatosis-1 (NF-1) is well established, whether adults with NF-1 have an increased risk of such malignancies is unclear. We currently describe two adult patients with NF-1 who rapidly developed secondary myelodysplastic syndromes with abnormalities of chromosome 7 following chemotherapy for AML. We propose that adults with NF-1 also have abnormalities of hematologic progenitor cells.
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ranking = 0.57142857142857
keywords = neurofibroma
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3/1096. Juvenile chronic myelogenous leukemia, neurofibromatosis 1, and xanthoma.

    The triple association of leukemia, xanthomatous skin lesions, and neurofibromatosis 1 (NF) was first described by Royer et al. in 1958. Most of the leukemias were of the juvenile chronic myelogenous type (JCML). We describe a 7-year-old male child with xanthoma, neurofibromatosis 1, and juvenile chronic myelogenous leukemia. His mother also had NF1. We suggest that the presence of xanthomas and NF1 in a young child should raise awareness of the possible development of JCML, especially in patients with a family history of NF1.
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ranking = 0.85714285714286
keywords = neurofibroma
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4/1096. 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 = 0.42857142857143
keywords = neurofibroma
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5/1096. Two independent mutations in a family with neurofibromatosis type 1 (NF1).

    We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This C-to-T transition at codon 1947 in exon 31 is considered to represent a mutation "hot spot" of the NF1 gene due to 5mCpG deamination. All living family members together with their genomic dna were included in this investigation. However, the mutation R1947X was absent from two undoubtedly affected siblings of the propositus. Another NF1 mutation (889-2A-->G) was identified in the two sibs by the protein truncation test (PTT). The novel splice site mutation 889-2A-->G results in a skip of NF1 exon 7 during splicing and protein truncation due to frameshift. The two NF1 alterations are linked to different paternal haplotypes. In our study of a three-generation kindred, R1947X represents a de novo mutation whereas 889-2A-->G is an inherited splice mutation. Implications for phenotype variation are discussed.
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ranking = 0.71428571428571
keywords = neurofibroma
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6/1096. 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 = 1.1428571428571
keywords = neurofibroma
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7/1096. A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1.

    The impact of neurofibromatosis type 1 (NF1) on psychiatric symptoms and diagnoses, personality variables and self evaluation was studied in a 12 year-follow-up of patients with NF 1 in the city of Goteborg, sweden. 48 living adult patients with NF1 were re-evaluated in 1990 in a 12 year long time follow up study. The patients were diagnosed according to the diagnostic and statistical manual of mental disorders. The following scales were used; the Comprehensive Psychopathological Rating Scale (CPRS), the Karolinska Scales of personality inventory (KSP) and the Self-Evaluation Scale (SES). A significant psychopathology was found in the NFI patients, p <0.001. One third of the patients were affected by a psychiatric disease, 21% by dysthymia. There was no significant progress in psychiatric symptoms in the follow up period. The personality profile disclosed a heightened self-esteem. The chronic stigmatizing character of NF1 may be the reason for the increased psychopathology found.
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ranking = 0.71428571428571
keywords = neurofibroma
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8/1096. Spondyloptosis of the cervical spine in neurofibromatosis. A case report.

    STUDY DESIGN: Case report and literature review. OBJECTIVES: To review the English literature pertaining to spondyloptosis of the cervical spine in patients with Von Recklinghausen's disease and to present as an illustrative example the case of a 41-year-old woman with a spondyloptotic kyphotic curve of the spine at C5-C7 of more than 110 degrees. SUMMARY OF BACKGROUND DATA: Involvement of the cervical spine in neurofibromatosis has only rarely been documented, although the spine is the part of the skeleton mostly affected in this hereditary disease. Only a few cases with a cervical kyphotic curve exceeding 90 degrees or with cervical spondyloptosis have been reported until now. methods: A literature and chart review was conducted. The patient was first treated conservatively, but over time, the spontaneous neck pain increased to an intolerable level and progressive neurologic deficits developed in the four limbs. For these reasons, surgical intervention was undertaken, according to suggestions from the literature. RESULTS: Postoperative imaging showed improved realignment of the cervical spine with a residual kyphos of 30 degrees. At later follow-up stable bony fusion was obtained in the lower cervical spine. CONCLUSIONS: A successful one-stage anterior and posterior correction and fusion-stabilization procedure was performed with extension from the occiput to T1.
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ranking = 0.71428571428571
keywords = neurofibroma
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9/1096. Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.

    Ten members of a large family who showed manifestations of either von hippel-lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases.
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ranking = 0.85714285714286
keywords = neurofibroma
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10/1096. Spontaneous haemothorax: a cause of sudden death in von Recklinghausen's disease.

    Vasculopathy is a relatively frequent but poorly recognised manifestation of von Recklinghausen's neurofibromatosis. One of its more dramatic presentations is as spontaneous haemothorax. Clinicians and pathologists should be aware of this syndrome as a cause of sudden death in patients with neurofibromatosis.
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ranking = 0.28571428571429
keywords = neurofibroma
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