• Journal of Korean Neurosurgical Society
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• v.30 no.8
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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 Yeungnam Medical Science
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• v.30 no.2
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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.

• Korean Journal of Head & Neck Oncology
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• v.39 no.2
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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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• v.42 no.6
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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.

• Kosin Medical Journal
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• v.33 no.3
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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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• v.52 no.3
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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.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.465-468
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• 2015

Hemangioblastomas in the pituitary stalk are especially rare. Most pituitary stalk hemangioblastomas reported in the literature were associated with von Hippel-Lindau (VHL) disease. Here, we report only the 3rd case of sporadic pituitary stalk hemangioblastoma diagnosed in a 60-year-old woman. Despite the danger of potential complications due to excessive vascularity or proximity to important neural structures, the tumor in our case was successfully removed while preserving pituitary function. In this case, complete surgical excision was shown to be an effective treatment option for symptomatic pituitary stalk hemangioblastoma, and we suggest careful evaluation of any highly enhancing mass with a signal void in the pituitary stalk preoperatively, even if no VHL disease is evident.

• Journal of Korean Neurosurgical Society
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• v.38 no.3
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• pp.184-189
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• 2005

Objective : Hemangioblastomas are highly vascular and benign neoplasm of the central nervous system[CNS]. They can often be found as multiple lesions, as is commonly observed in von Hippel-Lindau[VHL] disease. The aim of this study is to determine the proper management for multiple hemangioblastomas. Methods : Since 1990, 78cases of hemangioblastoma have been encountered. Among these, 9cases were multiple hemangioblastomas that were treated with surgical resection with or without radiosurgery. The medical, radiological, surgical and histological records were reviewed retrospectively and analyzed statistically. Results : Nine patients presented with multiple hemangioblastomas and were diagnosed as VHL disease. The mean follow-up duration was 75.7months [$6.6{\sim}159.2months$] after the first surgical treatment. Three patients were treated with surgical resection alone and six patients were treated by both surgical resection and radiosurgery. Twenty-one surgical procedures [13 surgical resections and 8 radiosurgery] were performed. One patient required ventriculoperitoneal shunt and a posterior fossa decompressive craniectomy because of post-radiation brain swelling. Another patient refused additional treatment for the newly developed lesions after the successful treatment of initial lesions. The other patient who presented with numerous lesions in the whole brain and spine underwent cranio-spinal irradiation. Remaining patients showed good results. Conclusion : The surgical outcomes for the patients with a single lesion of the CNS hemangioblastoma are favorable. However. the treatment of multiple hemangioblastoma is more difficult, and should be treated by surgical resection and radiosurgery with careful consideration.