• Journal of Korean Neurosurgical Society
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• 제30권8호
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• pp.1023-1027
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• 2001

Hemangioblastomas are rare benign tumor of the central nervous system that commonly occur in the posterior fossa around the 4th ventricle. In case of von Hippel-Lindau disease, hemangioblastomas involve multiple regions such as cerebellum, spinal cord and brainstem but, rarely show simultaneous involvement of cerebellum and spinal cord. We have experienced a case of multiple hemangioblastomas that were located at the cerebellum, cervical cord and conus medullaris and also had multiple lesions that a part of von Hippel-Lindau disease ; retinal angioma, syringomyelia, multiple cyst on kidney and pancreas, renal cell carcinoma on left kidney. Hemangioblastomas on cerebellum and spinal cord were removed totally, retinal angioma was treated with laser photocoagulation and renal cell carcinoma was also totally excised. The authors report a case of von Hippel-Lindau disease had multiple located hemangioblastomas on cerebellum, cervical cord and conus medullaris with review of literature.

• Journal of Korean Neurosurgical Society
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• 제30권8호
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• pp.1019-1022
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• 2001

Although brain metastasis of renal cell carcinoma is a major cause of death in Von Hippel-Lindau disease(VHL), it is not easy to distinguish local recurrence of hemangioblastoma from distant metastasis. In addition, hemangioblastoma has several characteristics suitable for recipient of "tumor-to-tumor metastasis". Authors report a case of Von Hippel-Lindau disease that had metastases of renal cell carcinomas.

• Journal of Korean Neurosurgical Society
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• 제54권5호
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• pp.415-419
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• 2013

Hemangioblastomas are sporadic tumors found in the cerebellum or spinal cord. Supratentorial hemangioblastomas are rare, and those with meningeal involvement are extremely rare and have been reported in only approximately 130 patients. Here, we report the case of a 51-year-old female patient with supratentorial meningeal hemangioblastoma detected 5 years after surgical resection of an infratentorial hemangioblastoma associated with von Hippel-Lindau disease. Patients with von Hippel-Lindau syndrome are at risk for developing multiple hemangioblastomas, with new tumor formation and growth and possible meningeal infiltration. Regular lifelong follow-up in at-risk patients is recommended and should include the differential diagnosis of dural-based tumors such as angioblastic meningioma and metastatic renal cell carcinoma.

• Journal of Yeungnam Medical Science
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• 제30권2호
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• pp.101-104
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• 2013

Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder caused by a germline mutation of the VHL gene. It is a multi-systemic disorder that is predisposed to benign or malignant tumors of visceral organs such as hemangioblastoma of the central nervous system, renal cell carcinoma, retinal angioma and pheochromocytoma. We report herein a case of VHL disease that initially manifested with aortic valve insufficiency.

• 대한두경부종양학회지
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• 제39권2호
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• pp.65-69
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• 2023

We report a unique case of hemangioma of the nasal cavity in von Hippel-Lindau (VHL) syndrome. A 26-year-old female with VHL syndrome who had previously undergone surgery for pancreatic and adrenal mass presented with a 4-month history of left-sided nasal obstruction. The patient had an expansile mass lesion in the left nasal cavity and an imaging test demonstrated the mass in the left maxillary sinus extending to the nasal cavity. The tumor was removed with an endoscopic prelacrimal recess approach considering the possibility of not only a benign tumor such as hemangioma but also a malignant tumor of the maxillary sinus and histopathologic examination confirmed cavernous hemangioma. This case is the rarely reported manifestation of the paranasal sinus in VHL disease.

• Journal of Korean Neurosurgical Society
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• 제48권3호
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• pp.263-267
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• 2010

Although cerebellar hemangioblastomas are histopathologically benign, they yield a degree of malignant clinical behavior in long-term follow-up. We present two cases of long-term progression of renal cell carcinoma, which had been diagnosed as renal cysts during treatment for cerebellar hemangioblastoma. A 14-year-old male with von Hippel-Lindau disease was admitted for a cerebellar hemangioblastoma with multiple spinal hemangioblastomas and a renal cyst. After primary total resection of the cerebellar hemangioblastoma, the patient required two further surgeries after 111 and 209 months for a recurrent cerebellar hemangioblastoma. Furthermore, he underwent radical nephrectomy as his renal cyst had progressed to renal cell carcinoma 209 months after initial diagnosis. A 26-year-old male presented with multiple cerebellar hemangioblastomas associated with von Hippel-Lindau disease and accompanied by multiple spinal hemangioblastomas and multiple cystic lesions in the liver, kidney, and pancreas. He underwent primary resect'lon of the cerebellar hemangioblastoma in association with craniospinal radiation for multiple intracranial/spinal masses. Unexpectedly, a malignant glioma developed 83 months after discovery of the cerebellar hemangioblastoma. At the same time, renal cell carcinoma, which had developed from an initial renal cyst, was diagnosed, and a radical nephrectomy was performed. In the view of long term clinical course, cerebellar hemangioblastoma associated with von Hipple-Lindau disease may redevelop even after primary total resection. In addition, associated lesions such as renal cysts may also progress to malignancy after the passing of a sufficient length of time.

• Journal of Korean Neurosurgical Society
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• 제53권5호
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• pp.297-299
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• 2013

Supratentorial hemangioblastomas (HBs) are rare, and pituitary stalk HBs are extremely uncommon; therefore, pituitary stalk evaluation is often overlooked. Herein, we report the development of pituitary stalk HB over a 20-year period and the importance of regular long-term follow up for patients with HBs.

• 고신대학교 의과대학 학술지
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• 제33권3호
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• pp.446-453
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• 2018

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4-12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.

• Journal of Korean Neurosurgical Society
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• 제42권6호
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• pp.436-440
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• 2007

Objective : Spinal cord hemangioblastoma is an uncommon vascular neoplasm with a benign nature and is associated with von Hippel-Lindau (VHL) disease in 20-30% of patients. Total removal of these tumors without significant neurological deficit remains a great challenge. The purpose of this study was to investigate the efficacy of VHL mutation analysis and to evaluate surgical outcome of patients with spinal cord hemangioblastomas. Methods : This study included nine patients treated for spinal cord hemangioblastomas at our institute between December 1994 and March 2006. There were four male and five female patients. Mean age was 37.8 years. The mean follow-up period was 22.4 months. Magnetic resonance imaging (MRI) of the complete neuraxis was done in all cases and VHL mutation analysis was performed in three cases for a definite diagnosis. Results : Six patients had intramedullary tumor, and the remaining patients had intradural extramedullary lesions. Five patients were associated with VHL disease. The von Hippel-Lindau mutation analysis was done in three patients and two of them showed VHL gene abnormality. Tumors were located in the cervical cord in five cases and in the thoracic cord in four cases. All patients underwent surgical intervention, and total removal was achieved in six cases. All patients showed improvement or, at least, clinically stationary state. Surgical complications did not develop in any cases. Conclusion : Spinal hemangioblastoma in this series has been safely and effectively removed via a posterior approach. Postoperatively, clinical outcome was excellent in the majority of cases. The VHL mutation analysis was useful in patients with family history and in those with multiple hemangioblastomas.

• Journal of Korean Neurosurgical Society
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• 제52권3호
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• pp.221-227
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• 2012

Objective : Spinal cord hemangioblastomas are rare tumors. Despite their benign, slow-growing nature, they can cause severe neurological consequences. The purpose of this study was to evaluate variable factors, including clinical features, tumor findings, the extent of resection, and its recurrence or progression, which determine postoperative functional outcomes. Methods : This study included sixteen patients at our institute who underwent microsurgical resection for sporadic spinal intramedullary hemangioblastomas and spinal intramedullary hemangioblastomas associated with von Hippel-Lindau (VHL) disease, between June 2003 and March 2012. Results : A total of 30 operations were performed. Total resection (TR) of the tumor was achieved in 10 patients, and subtotal resection (STR) was achieved in 6. Postoperatively, the initial presenting symptoms were improved in 18.7% of the patients and were unchanged in 56.3%, but 25% were worse. Stable postoperative neurological functions were found in 83% of patients with preoperative McCormick grade I, and TR was achieved in 75% of these patients. In the STR group, poorer neurological status was observed in one patient, despite multiple operations. There were no poorer outcomes in the four cases of VHL disease. Various factors were analyzed, but only a correlation between the pre- and postoperative neurological status was verified in the TR-group patients. Conclusion : Preoperative focal neurological impairment and meticulous microsurgical manipulation may be predictors of favorable outcomes for solitary hemangioblastomas. In addition, the preservation of function is more important than the extent of resection in VHL disease.