Cases reported "Neurofibromatosis 1"

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1/86. 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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2/86. breast cancer associated with Recklinghausen's disease: report of a case.

    A 49-year-old woman with Recklinghausen's disease presented to our department for investigation of a left breast lump, measuring 60 mm x 50 mm, which she had first noticed 6 months earlier, but had disregarded, believing it to be another manifestation of her Recklinghausen's disease. The lump was suspected to be malignant based on physical examination and ultrasonography. biopsy and frozen sections subsequently confirmed a diagnosis of scirrhous carcinoma. A standard radical mastectomy was performed, followed by postoperative chemoendocrine therapy. However, lungs, liver, and bone metastasis, as well as a contralateral breast tumor, developed and she died 4 months after surgery.
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3/86. A child with neurofibromatosis-1 and a lumbar epidural arteriovenous malformation.

    A 10-year-old child with neurofibromatosis-1 was evaluated for progressive lumbar scoliosis, back pain, and foot numbness. magnetic resonance imaging showed several lumbar intraspinal and extraspinal masses consistent with neurofibromas. The mass at L3-L5 compressed the thecal sac and was thought to be the source of the symptoms. On operative exploration, a lumbar epidural arteriovenous malformation was found, which was removed in its entirety. The child's back pain and foot numbness resolved. Epidural arteriovenous malformations in patients with neurofibromatosis-1 are rare and have been reported only in the cervical spine. Our finding of a lumbar epidural arteriovenous malformation in a child with neurofibromatosis-1 demonstrates that vascular anomalies can be present throughout the spine of patients with neurofibromatosis-1 and should be considered in the differential diagnosis of any neurofibromatosis-1-related epidural mass.
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4/86. Intraventricular malignant triton tumour.

    The authors present the clinical and pathological features of a malignant triton tumour (MTT) in the lateral ventricle with neurofibromatosis type 1. A 57 year-old man presented with disorientation and memory disturbance. A Computed tomographic scan and magnetic resonance imaging studies revealed an enhancing lesion in the left lateral ventricle. A parieto-occipital transcallosal approach was taken and resection of the lesion was performed. The operative findings suggested that the tumour arose from the perivascular nerves. The final pathological diagnosis was a MTT. This is the first case of an intraventricular MTT. Aggressive treatment including radical surgery combined with radiochemotherapy is recommended for a MTT of the central nervous system.
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5/86. Intrathoracic tumours in von Recklinghausen's neurofibromatosis.

    We review our cases of a rare pathology, intrathoracic tumours in von Recklinghausen's neurofibromatosis, involving 6 patients operated upon in our Surgery Department for intrathoracic neurogenic tumors. All had had a positive history of von Recklinghausen's neurofibromatosis prior to thoracic surgery. The management of this rare condition is discussed. We describe the presentation of the symptoms, the operative technique and the long-term outcome, when obtainable. Our results are compared with those of other authors, and the management of these cases is reconsidered. In conclusion, we recommend that thoracic surgery should only be considered when the patient becomes symptomatic, since malignant changes in the tumour are possible due to operative trauma.
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6/86. forearm pseudarthrosis--neurofibromatosis: case report.

    A 3 1/2-year-old white girl with neurofibromatosis sustained left radius and ulna fractures. The radius was sclerotic with no medullary canal at the fracture site, and the ulna was hypoplastic distal to the fracture. The fractures failed to unite when immobilized in a long arm plaster cast for 5 months and pseudarthrosis developed. Three subsequent operative attempts to obtain union of the pseudarthrosis by means of internal fixation and bone grafting over the next 30 months were also unsuccessful, and the pseudarthrosis persisted. The forearm was supported in a custom molded leather brace until the child was 13 1/2 years old and had reached skeletal maturity. Osseous union was then operatively obtained using dual onlay tibial cortical and cancellous bone grafts. There has been no recurrence of the pseudarthrosis 3 years and 2 months after bone grafting. The author recommends postponing surgical attempts to achieve union of the forearm bone pseudarthrosis associated with neurofibromatosis until the patient reaches skeletal maturity.
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7/86. Multiple coronary aneurysms in a patient with neurofibromatosis type 1: case report and intravascular ultrasound of aneurysm.

    A 54 year old woman with neurofibromatosis type 1 (NF-1) was found to have multiple coronary aneurysms. Intraoperative intravascular ultrasound (IVUS) revealed severe coronary disease proximal to the aneurysm that had not been apparent angiographically. An IVUS picture of one of the giant coronary aneurysms is also shown. The vascular manifestations of neurofibromatosis and the causes of coronary aneurysms are reviewed.
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8/86. Neurofibromatosis type 1-associated unusual pleomorphic astrocytoma displaying continual malignant progression.

    patients with neurofibromatosis type 1 (NF1) often have gliomas as a complication, most of which are benign pilocytic astrocytomas which have arisen in optic pathways. In the present case, a 17-year-old girl (at death) with stigmata of NF1, initially had a bulky tumor mass in the left thalamus, developing into the lateral ventricle, at 13 years of age. Partially resected tissue samples showed pleomorphic astrocytoma with abundant xanthoma cells and degenerative structures such as Rosenthal fibers (RF) and eosinophilic granular bodies. Fine eosinophilic granules identical to RF, both immunophenotypically and ultrastructurally, were also seen. The residual tumor was subtotally resected 6 months later, and the tumor histology was essentially similar as before, accompanying the regenerative structures; this was believed to be a good prognostic indicator. However, several anaplastic features such as mitosis, necrosis and vascular proliferation appeared even in areas rich in the regenerative structures. After a 2-year, disease-free interval, multiple tumor relapse occurred in June 1997. Partially resected tumor tissues were composed of monotonous small anaplastic cells with prominent proliferative activity. Surprisingly, the tumor cells had retained eosinophilic granules within the cell bodies. Postoperative chemotherapy with procarbazine, MCNU and vincristine (PCV) suppressed the residual tumor dramatically, but the regrowing tumor finally became uncontrollable, leading to the patient's death. TP53 mutation was not detected, while p27 immunopositivity was constantly high during malignant progression, suggesting acquisition of proliferative activity to overcome p53 and p27 inhibitory functions. A review of previously published reports failed to reveal any cases of this type.
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9/86. The association of neurofibromatosis 1 and spinal deformity with primary hyperparathyroidism and osteomalacia: might melatonin have a role?

    A 35-year-old woman with neurofibromatosis 1 and thoracic kyphoscoliosis had incomplete paraplegia. She had a history of hyperparathyroidism due to a parathyroid adenoma which had been excised 4 years previously. Plain radiographs of the spine revealed kyphoscoliosis from the third to sixth thoracic vertebrae. kyphosis and scoliosis angles were 86 degrees and 28 degrees, respectively. Radiographs of the skull and hands showed radiological changes suggestive of hyperparathyroidism. Laboratory tests showed low-normal serum calcium, hypophosphatemia, elevated serum alkaline phosphatase, and low serum 25-hydroxyvitamin D. Retrospective review of the patient's laboratory data showed that she had osteomalacia at the time of diagnosis of primary hyperparathyroidism. The patient had been treated by anterior and posterior decompression and fusion with posterior instrumentation through a single posterior approach. The postoperative kyphosis and scoliosis angles were 30 degrees and 12 degrees, respectively. Neurological recovery and spinal fusion had been achieved. osteomalacia responded well to vitamin d therapy. This is the first case of coexisting neurofibromatosis 1, primary hyperparathyroidism due to parathyroid adenoma and osteomalacia to be reported in the literature. The osteomalacia in this patient could be related to primary hyperparathyroidism, and not to neurofibromatosis 1. A drop in melatonin level after parathyroidectomy may have been the cause of spinal curvature progression in this patient.
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10/86. hemarthrosis: an unusual complication of type 1 neurofibromatosis.

    Type 1 neurofibromatosis is one of the most common autosomal-dominant disorders and often includes orthopedic manifestations. We report the case of a 48-year-old woman with hemarthrosis caused by a popliteal cyst infiltrated by a diffuse neurofibroma associated with angiodysplasia. Surgical resection of this tumor was followed by postoperative hemorrhagic complications.
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