Case Of Von Hippel-Lindau Disease Research Articles

Семейный случай болезни Гиппеля-Линдау, ассоциированной с гемангиобластомой спинного мозга и сирингомиелией: хирургическое лечение и динамическое наблюдение

Семейный случай болезни Гиппеля-Линдау, ассоциированной с гемангиобластомой спинного мозга и сирингомиелией: хирургическое лечение и динамическое наблюдение

A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma

A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma

A case of von Hippel-Lindau disease with multi-organ involvement: a rare case report

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of tumours in the central nervous system (CNS) and other visceral organs. We herein report a case of 35 years aged newly diagnosed diabetic female patient presented with headache, gait instability, loss of vision in both eyes, left sided hearing impairment and subsequently diagnosed to have VHL disease. The pathophysiology involves the inactivation of the VHL tumour suppressor gene. Early recognition and treatment remains the mainstay of management. Even many years after the complete tumour excision, newer neoplasms may develop. Increasing knowledge about the molecular enabled us to investigate the role of anti-angiogenic drugs. Continuous surveillance at regular interval must be conducted in patients with VHL disease.

A case of Von Hippel-Lindau disease with bilateral pheochromocytoma and ectopic hypersecretion of intact parathyroid hormone

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Peripheral retinal nonperfusion using widefield imaging with von Hippel-Lindau disease

BackgroundTo describe a case of von Hippel-Lindau disease with peripheral retinal nonperfusion.Case presentationA 66-year-old female with known cerebellar and midbrain hemangioblastomas was evaluated for a retinal hemangioblastoma in the right eye. She underwent widefield fluorescein angiography, which showed hyperfluorescence localized to the hemangioblastoma surrounded by peripheral retinal nonperfusion in the same quadrant.ConclusionsFurther widefield imaging studies are required to determine if peripheral retinal nonperfusion is a common finding in von Hippel-Lindau disease.

A Case of von Hippel-lindau Disease Diagnosed from Paraganglioma Developing in the Mesocolon Removed at Surgery for Ascending Colon Cancer

A Case of von Hippel-lindau Disease Diagnosed from Paraganglioma Developing in the Mesocolon Removed at Surgery for Ascending Colon Cancer

Long-term follow-up and clinical course of a rare case of von Hippel-Lindau disease: A case report and review of the literature.

von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic syndrome that increases susceptibility to a variety of benign and malignant neoplasms. It has been well documented that, despite complete excision of initial neoplasms, VHL patients may develop further lesions, in some cases many years after the initial diagnosis. Therefore, the varied and complex clinical manifestations and radiological findings of VHL are of interest. The current study is the first to describe a case of VHL disease with lateral ventricular hemangioblastomas and subsequent pancreatic neuroendocrine tumor, bilateral renal cysts and renal cell carcinoma. The complete clinical course, radiological findings, including ultrasound, computed tomography and magnetic resonance imaging (MRI), and associated pathological findings are presented. Radiology is critical in the accurate diagnosis, treatment and follow-up of VHL. Continuous close and long-term follow-up with radiological examination, particularly MRI, must be conducted in patients with VHL disease. To the best of our knowledge, the current case is a rare phenomenon that has not yet been described in the English literature.

Pancreatic involvement in 11 cases of Von Hippel-Lindau disease.

Von Hippel-Lindau disease is an autosomal dominant genetic disorder characterized by neoplasms developing in multiple organs. Although the pancreas is one of the most frequently involved organs, the frequency of pancreatic cysts, cystadenomas, neuroendocrine tumors and diabetes has not been sufficiently evaluated due to the low prevalence of this disease. In this paper, we review and retrospectively analyze 11 patients with von Hippel-Lindau disease. Eleven patients (6 males, 5 females) who underwent CT or MRI scans at Okayama University Hospital between 2002 and 2009 were enrolled in this study. Their pancreatic CT scans, MRI scans, biochemical test results and clinical histories were retrospectively reviewed. All patients had one or more pancreatic involvements. Nine of the 11 patients had multiple pancreatic cysts, 2 had dilatation of the main pancreatic duct, 3 had a non-functioning pancreatic endocrine tumor (one patient required pancreatoduodenectomy due to the endocrine carcinoma) and 3 had diabetes mellitus. Pancreatic cystadenomas were not detected in this case series. The prevalence of pancreatic involvement was 100% in this study. Regular screening and scheduled follow-up for pancreatic lesions and diabetes should be performed on individuals predisposed to von Hippel-Lindau disease.

Combination of Right Nephrectomy and Total Pancreaticoduodenectomy for von Hippel-Lindau Disease

Von Hippel-Lindau disease is an inherited syndrome of multiorgan neoplasia caused by a germline mutation in the von Hippel-Lindau gene and can include central nervous system tumors, renal cell carcinomas and benign pancreatic cystic tumors. We report the case of a 56-year-old patient who had a past history of cerebellar hemangioblastoma and presented with abdominal pain. Imaging revealed renal tumors and multiple pancreatic tumors which caused duodenal and pancreatic duct compression. The patient was treated with a combination of radical right nephrectomy, total pancreaticoduodenectomy and splenectomy. Pathology identified a multifocal unilateral clear cell renal carcinoma which interestingly coexisted with multiple large pancreatic serous microcystic adenomas with infiltration of the fibrous capsule. In past cases of von Hippel-Lindau disease, pancreatic adenomas with malignant transformation have not been reported. In our case, the infiltration of the fibrous capsule by parenchymal cells may indicate malignant transformation.

Acute myeloid leukemia in a 38-year-old hemodialyzed patient with von Hippel-Lindau disease

Von Hippel-Lindau disease (VHL disease) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene. The gene product, pVHL, regulates the level of proteins that play a central role in protecting cells against hypoxia. Clinical hallmarks of von Hippel-Lindau disease are the development of central nervous system hemangioblastomas, renal cell carcinoma, pheochromocytoma, neuroendocrine tumors and endolymphatic sac tumors.In this article the case of a 38-year old hemodialyzed patient who became ill with acute myeloid leukemia (AML) three years after being diagnosed with von Hippel-Lindau disease is presented.After cytostatic treatment the patient went into complete hematologic remission but there was still residual disease at the genetic level. After consolidation therapy patient developed bone marrow aplasia and severe pneumonia. Despite intensive treatment the patient died from acute respiratory failure.In this paper we present for the first time a case of von Hippel-Lindau disease associated with acute myeloid leukemia. No evidence of relationship between VHL disease and blood cancers has been demonstrated so far. Despite the fact that there is an increased risk of cancer development in hemodialyzed patients, cancer is a relatively rare cause of death in the dialysed population, and the most common malignancies are genitourinary cancers. It seems likely that development of acute myeloid leukemia in patient with VHL disease can be related to epigenetic alterations of the VHL gene, but further studies are needed.

Von Hippel Lindau disease with exudative retinal detachment and retinal hemangioma

Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized by retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys and pancreas. Early detection and treatment of VHL disease may prevent loss of vision and loss of life. We report a case of VHL disease in a 34-year-old male who presented to us with a massive exudative retinal detachment with multiple hemangiomas in right eye and peripheral angioma with regressed papillomacular bundle angioma in left eye. Vision in the right eye was already lost. He had mass in head region of pancreas, cholelithiasis and right renal cortical cyst. Patient had undergone bilateral adrenalectomy for pheochromocytoma, craniotomy for cerebellar hemangioma and photodynamic therapy in left eye for papillomacular bundle angioma.

Surgical Outcome of Spinal Cord Hemangioblastomas

ObjectiveSpinal 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.MethodsThis 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.ResultsA 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.ConclusionPreoperative 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.

両側副腎褐色細胞腫切除13年後に発見された同時多発性膵内分泌腫瘍，腎癌を契機に診断に至ったvon Hippel-Lindau病の1例

両側副腎褐色細胞腫切除13年後に発見された同時多発性膵内分泌腫瘍，腎癌を契機に診断に至ったvon Hippel-Lindau病の1例

Les tumeurs intramédullaires. Résultat d’une enquête nationale en neurochirurgie libérale

The frequency of intramedullary tumors is 0.5 cases per year for 100,000 inhabitants. The study reported herein was a retrospective study conducted from January 1985 to September 2007. Material Seventy-nine cases were distributed in the following manner: ependymomas, 38; astrocytomas, 22; oligodendrogliomas, four; gangliogliomas, two; hemangioblastomas, 10 (nine sporadic cases and one case of Von Hippel-Lindau disease); primitive melanoma, one; and intramedullary neurinomas, two. Three patients were lost to follow-up and 10 patients died. Method All patients were explored using MRI and were operated using a microsurgical technique. Tumor removal was complete in the cases of ependymoma and hemangioblastoma and subtotal in the cases of astrocytoma. Results Ependymoma: 38 cases with three cases of ependymoblastoma. Mean age: 47 years (range, 17–74 years); 17 males and 21 females. Diagnostic delay: less than one year, 11; one year, 15 cases; two years, nine cases; three years, three cases. Seven recurrences with one 35 years after a prior removal. Localizations: cervical and cervicodorsal, 19; dorsal, ten; dorsolumbar, seven; holomedullary, one. Number of levels concerned: 5–12 (with the cysts associated). Mean follow-up was 10 years (range, two months to 35 years). Patients stabilized, 19; worse, six; improved, nine. Patients deceased: four, one by suicide, three cases of ependymoblastoma (survival, seven months). Astrocytomas: 22 cases, with 14 cases of astrocytoma, two pilocytic astrocytoma, four malignant astrocytoma, and two glioblastoma. Mean age: 44 years (range, 22–73 years); 14 males and eight females. Diagnostic delay: malignant tumors, one to nine months; low grades; three to six years (range, eight months to 25 years). Number of levels concerned: two to eight. Mean follow-up: seven years (range, six months to 10 years). Stabilized patients: 13; worse, five; deaths, four. Oligodendroglioma: four cases. Mean age: 58 years; two males and two females. Diagnostic delay: 10 months. Localization: cervical, three; dorsal, one. Oligodendroglioma A, two; B, two. Results: two cases stabilized, one case with recurrence, and one patient deceased. Ganglioglioma: two. Both cases were associated with scoliosis. Recurrence in the eighth month and two years for the second case. One patient died. Hemangioblastoma: 10 cases, nine sporadic and one case of Von Hippel-Lindau disease. Nine cervical localizations, one on the medulla cone. Mean age: 45 years (range, 11–54 years); eight males and two females. Total removal in nine cases. One case of recurrence seven years after a prior surgery and operated a second time with no recurrence after 10 years of follow-up. Intramedullary neurinomas: two cases with a total removal and 15 years of follow-up. Primitive melanoma: one case with mediothoracic location. Treatment with surgery plus radiotherapy. Follow-up, seven years without recurrence. Conclusion Total removal of the intramedullary tumors is a challenge. In cases of removal, the risk of worsening status is 18–19.5%. Subtotal or incomplete removal 27–40% risk of recurrence.

膵内分泌腫瘍の発症により診断された散発性ｖｏｎ Ｈｉｐｐｅｌ‐Ｌｉｎｄａｕ病の１例

症例は45歳の男性で，31歳時に小脳血管芽腫にて開頭腫瘍摘出術を施行した．家族歴にvon Hippel-Lindau病（以下，VHL病）はなかった．2007年5月の健診にて膵腫瘍を認め，精査加療目的7月上旬に当院紹介となった．精査にて非機能性膵内分泌腫瘍，膵漿液性嚢胞腫瘍の診断となり，8月下旬に幽門輪温存膵頭十二指腸切除術を施行された．病理では神経内分泌腫瘍，膵漿液性嚢胞腺腫の診断であった．本症例は家族歴のない散発性のVHL病であったため，小脳血管芽腫の手術の際には診断基準を満たさなかったが，14年経過した今回の手術でVHL病と診断された．家族歴がなくとも，網膜や中枢神経の血管芽腫などのVHL病を疑う疾患があれば，長期にわたるフォローが必要であると考えられた．

A case of von Hippel-Lindau disease with exudative maculopathy

Von Hippel-Lindau (VHL) disease is a rare multisystem familial tumor syndrome of autosomal dominant inheritance. Hallmark lesions include retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys, pancreas, and epididymis. We report a case of VHL disease in a 26-year-old patient who presented with exudative macular edema. Ocular and systemic studies revealed the presence of retinal and central nervous system hemangioblastomas, adrenal pheochromocytoma, multiple pancreatic, and kidney cysts. The retinal angiomas were successfully treated with argon laser photocoagulation and cryotherapy.

Single case of renal cell carcinoma and endocrine pancreatic head cancer occurring with von Hippel-Lindau disease

Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disease in which various neoplastic lesions occur in multiple organs. Reported here is a case of VHL disease with concurrent renal cell carcinoma and endocrine pancreatic cancer. The patient was a 43-year old woman. On this occasion, the patient had sought treatment from her local physician, complaining chiefly of yellowing of the skin and bulbar conjunctiva. Abdominal ultrasound and computed tomography scans revealed a mass in the right kidney and a mass in the pancreatic head. Peripheral blood genetic analysis revealed an Arg/stop heteroconjugative mutation in codon 113 in exon 1 of the VHL gene on the short arm of chromosome 3 (p25-26). After various tests were performed, the patient was diagnosed with right renal cell carcinoma, malignant tumor of the pancreatic head, and multiple pancreatic cysts accompanying von Hippel-Lindau disease. Right nephrectomy and pancreatoduodenectomy were performed. Based on the histopathological results, the patient was diagnosed with right renal cell carcinoma and highly differentiated endocrine pancreatic cancer. Immunohistologically, a large number of atypical cells were found to be positive for both anti-chromogranin and anti-synaptophysin antibodies in the endocrine tumor. Immunostaining for each type of gut hormone was also performed, but all results were negative. Based on the above findings, nonfunctioning, highly differentiating endocrine cancer was diagnosed. This is the first confirmed case of renal cell carcinoma and endocrine pancreatic cancer occurring concurrently with VHL. This is an important case, so it is presented here along with a short discussion of the literature.

The report and pathologic analysis of 2 cases of Von Hippel-Lindau disease in twins of brother

例1,兄,40岁,因左腰部不适半年,无痛性全程血尿2 d,于2004年7月入院.该患者于1996年曾因脑占位性病变而手术,术后诊断颈髓血管母细胞瘤,同时发现双侧肾囊肿,2003年11月因附睾头部肿物增大伴胀痛在我院行双侧附睾乳头状囊腺瘤切除术(在此20年前兵役体检时发现双侧附睾头部稍肿大,当时未引起重视).此次入院体检发现左肾区膨隆,可触及肿物,压痛和叩击痛.CT及B超显示肾内占位性病变,大小8.5 cm ×9.8 cm ×13.2 cm。

Esophagogastric varices due to arterioportal shunt in a serous cystadenoma of the pancreas in von Hippel-Lindau disease.

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited disorder characterized by extensively vascularized tumors and cysts in specific organs. Angiogenesis is a striking future of VHL disease with its characteristic cysts and well-vascularized tumors. The hypervascular nature of VHL lesions has been linked to the overproduciton of vascular endothelial growth factor (VEGF) through increased expression of hypoxia inducible factor-1alpha (HIF-1alpha). Here we describe a rare case of VHL disease with esophageal and gastric varices due to arterioportal shunt in a serous cystadenoma of the pancreas, which, upon immunohistochemical examination, exhibited HIF-1alpha and VEGF expression. Rupture of esophageal varices was successfully treated with endoscopic injection sclerotherapy.

Von Hippel-Lindau disease: A Case Report

Von Hippel-Lindau disease is an autosomal dominant disorder characterized by the presence of multiple benign and malignant tumors including hemangioblastomas of the retina and central nervous system, pancreatic cysts and tumors, renal cell carcinomas, pheochromocytomas and epididymal cystadenomas. We report the radiologic findings of a case of von Hippel-Lindau disease, describing the family history.