1/79. Extradural spinal hemangioblastomas: report of two cases.Two cases of predominantly extraspinally extra- and intradural spinal cord hemangioblastomas in two patients each with and without von Hippel-Lindau-disease are reported. Preoperative MRI and angiographic findings are presented and the differential diagnosis is discussed. The surgical procedure is described and the literature of hemangioblastomas in this rare localization is reviewed. Improvements in both radiologic diagnosis and microsurgical techniques, and consequent screening programs will enhance life expectancy in patients afflicted with von hippel-lindau disease.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
2/79. Postpartum cerebellar herniation in von Hippel-Lindau syndrome.PURPOSE: To describe exacerbation during pregnancy of cerebellar hemangioblastoma in von Hippel-Lindau syndrome. METHOD: Case-report. A 21-year-old woman with von Hippel-Lindau syndrome was found on routine ocular examination to have severe papilledema 1 week after giving birth. RESULTS: Immediate magnetic resonance imaging disclosed a large cerebellar cyst from hemangioblastoma causing cerebellar tonsillar herniation. Immediate neurosurgical intervention was life saving. CONCLUSION: Worsening of intracranial hemangioblastoma during pregnancy in cases of von Hippel-Lindau syndrome should be realized and periodic neurologic and ophthalmologic observation is warranted.- - - - - - - - - - ranking = 3.5keywords = von (Clic here for more details about this article) |
3/79. Multiple spinal "miliary" hemangioblastomas in von Hippel-Lindau (vHL) disease without cerebellar involvement. A case report and review of the literature.We report on a 57-year-old male presenting with radicular pain in the nerve roots of L5 and S1 on the right side and dysuria. magnetic resonance imaging (MRI) of the lumbar spine showed multiple (up to 20) small, intradural enhancing nodules attached to the cauda equina down to the sacrum, the largest 1 cm in diameter at the level Th12/L1 compressing the conus. Additionally, small nodules in the cervico-thoracal region adjacent to the cord, but no cerebellar or cerebral abnormalities, were detected in a consecutive MRI of the remaining neuroaxis. The histology of a resected lesion at Th12/L1 revealed hemangioblastoma of the reticular type. Together with a history of left eye enucleation performed 17 years ago for angiomatosis of the retina and the immunohistochemical detection of von Hippel-Lindau (vHL) protein within the removed spinal hemangioblastoma, a diagnosis of vHL disease was established. family history and screening for visceral manifestations of vHL disease were negative. In contrast to cerebellar or solitary spinal hemangioblastomas, multiple spinal hemangioblastomas without cerebellar involvement in vHL represent unusual manifestations. Unlike the case for solitary lesions in non-syndromic patients, a surgical cure does not seem feasible in this case. The role of treatment modalities is discussed.- - - - - - - - - - ranking = 2.5keywords = von (Clic here for more details about this article) |
4/79. The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von hippel-lindau disease.von hippel-lindau disease is an autosomal dominant disorder caused by a mutation of VHL gene. The incidence of the disease is one in 36,000 and its clinical manifestation is a familial occurrence of hemangioblastoma of the central nervous system and retina, renal cell cancer and pheochromocytoma. Cerebellar hemangioblastoma is the most frequent or sometimes the only abnormality observed in this syndrome. We present a family with von hippel-lindau disease in which four first degree relatives had a cerebellar hemangioblastoma. This neoplasm caused the death of two brothers aged 27 and 24 years old, respectively and their mother aged 62. The third son of this family was affected ten years ago, at the age of 30. The healthy family members are counselled in Oncological Genetic Outpatient Unit in Gdansk.- - - - - - - - - - ranking = 2.5keywords = von (Clic here for more details about this article) |
5/79. Somatic mosaicism in von hippel-lindau disease.von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.- - - - - - - - - - ranking = 3.5keywords = von (Clic here for more details about this article) |
6/79. Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report.We report a case of metastatic renal carcinoma in a multirecurrent cerebellar haemangioblastoma (HBL) in an adult patient with von Hippel Lindau (VHL) disease. To our knowledge, only two cases of metastases to intracranial HBLs have been reported.- - - - - - - - - - ranking = 2.5keywords = von (Clic here for more details about this article) |
7/79. hemangioblastoma of the internal acoustic canal in a patient with von hippel-lindau disease: a case report and review of the literature.We report a case of von hippel-lindau disease in a 55-year-old woman who presented with an intracanalicular hemangioblastoma and discuss the otologic manifestations of this disease. A review of the literature revealed no previous reports of this entity originating in the internal acoustic canal.- - - - - - - - - - ranking = 2.5keywords = von (Clic here for more details about this article) |
8/79. dna-based diagnosis of the von Hippel-Lindau syndrome.PURPOSE: To evaluate the etiology of a unilateral hemangioblastoma noted in a male with a family history remarkable only for spine surgery in the proband's father. methods: Genomic dna was isolated from peripheral blood of family members, and the three exons of the von Hippel-Lindau gene were examined for mutations by direct sequencing. RESULTS: A three base pair (bp) deletion in exon 1 of the VHL gene was found in the father and both sons. This in-frame deletion results in the loss of a phenylalanine residue from the von Hippel-Lindau protein product, at amino acid position 76. CONCLUSION: Genetic screening has confirmed that von Hippel-Lindau syndrome is responsible for the hemangioblastoma in the proband. magnetic resonance imaging scans performed as a consequence of these results indicated spinal tumors present in the father and tumors present in the cerebellum of the proband's sibling. As close, lifelong follow-up is warranted with this disease, this case demonstrates the value of dna testing in patients with ocular findings consistent with von hippel-lindau disease in the absence of a recognized family history.- - - - - - - - - - ranking = 4keywords = von (Clic here for more details about this article) |
9/79. A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.Various mutations in the VHL gene on chromosome 3p25-26 are responsible for von Hippel-Lindau (VHL) syndrome. We report on a Japanese VHL family in which two of the three affected members developed acute occlusive hydrocephalus that necessitated emergency surgery for ventricular shunt or drainage. Direct sequencing and restriction fragment length polymorphism analysis identified a germline missense mutation, proline-to-leucine, caused by a C-to-T transition at the second nucleotide of codon 157.- - - - - - - - - - ranking = 0.5keywords = von (Clic here for more details about this article) |
10/79. Retroperitoneal peripheral hemangioblastoma: a case report and review of the literature.central nervous system hemangioblastomas are uncommon tumors of controversial etiology that are usually found in the posterior fossa of the cranial cavity, retina, and spinal cord. Peripheral involvement is rare; only isolated case reports have been identified. We report an unusual case of hemangioblastoma involving the retroperitoneum. A 47-year-old African-American man presented with polycythemia on routine laboratory testing. Computed tomography revealed a large retroperitoneal mass near the pancreas, in a left suprarenal location, without adrenal involvement and without attachment to a nerve. Although hemangioblastoma may be associated with the von Hippel-Lindau syndrome, this patient did not have any of the stigmata of this disease. The histologic features included a highly vascular tumor with cellular areas composed of plump, pleomorphic spindled and epithelioid (stromal) cells with variable cytoplasmic lipid vacuoles and hypocellular areas with inflammatory cells and collagenous fibrils. Immunohistochemical staining showed that the tumor (stromal) cells were positive for vimentin, calponin, S-100 protein, neuron-specific enolase, and CD57 and negative for glial fibrillary acidic protein, cytokeratins, epithelial membrane antigen, CD34, HMB-45, desmin, and the actins. These morphologic and immunohistochemical findings are consistent with hemangioblastoma. To our knowledge this is the first reported case of a hemangioblastoma in this location. Based on this case we conclude that hemangioblastoma may occur in the retroperitoneum and outside of the central nervous system in a patient without von Hippel-Lindau syndrome. The immunoprofile of this case suggests that hemangioblastomas are mesenchymal neoplasms exhibiting both neural and myofibroblastic differentiation.- - - - - - - - - - ranking = 1keywords = von (Clic here for more details about this article) |
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