Case Of Von Hippel-Lindau Disease Research Articles

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.

Pheochromocytoma in von Hippel-Lindau Disease: Clinical Presentation and Mutation Analysis in a Large, Multigenerational Kindred1

The clinical presentation and characterization of the mutation in members of a large kindred with von Hippel-Lindau disease (VHLD) and pheochromocytoma were examined. Twenty-five proven cases of VHLD occurring in four generations of a large kindred have been followed since 1964, and pheochromocytoma has occurred in 17. Symptoms of pheochromocytoma developed at an early age, on average at 12.5 +/- 1.3 yr, and definitive diagnosis and treatment of pheochromocytoma occurred at 19.9 +/- 2.6 yr. Significantly higher urine catecholamine concentrations were observed in younger patients than in older ones. Mutation analysis was performed in 14 family members, and a new mutation in the VHLD gene was identified in 11; this mutation is a G to T change at nucleotide 658 that results in the substitution of a serine for an alanine residue at position 149 of the polypeptide chain. Seven of the 11 patients with the mutation have VHLD; four, all 10 yr old or less, are asymptomatic and have no evidence of disease, but are at high risk for developing VHLD. These children are being followed closely for clinical and biochemical manifestations. The characterization of this new mutation has permitted identification of family members who are likely to develop VHLD.

Von Hippel-Lindau Disease

Two cases of von Hippel-Lindau disease are presented. Case 1 was a 52-year-old male with four lesions: a cerebellar hemangioblastoma, an intraventricular metastatic tumor, a renal cell carcinoma, and a liver cyst. The patient died of intraventricular hemorrhage due to a metastatic brain tumor of the renal cell carcinoma. Brain metastasis of the renal cell carcinoma of von HippelLindau disease is extremely rare. Case 2 was a 24-year-old male with five lesions: a cerebellar hemangioblastoma, a spinal hemangioblastoma, a pancreatic cyst, a pheochromocytoma, and multiple renal cysts. Spinal angiography was useful in the diagnosis of the spinal tumor. The elder brother of the patient has an asymptomatic renal cyst. Twenty-five distinct lesions have been reported in von Hippel-Lindau disease. Computed tomographic screening seems to provide typical image of the central nervous and abdominal tumors.

VON HIPPEL-LINDAU DISEASE

We report clinicopathologic features of a case of von Hippel-Lindau disease in a patient who had been clinically followed for bilateral retinal and cerebellar involvement. Two of the patient's retinal hemangiomas appeared to show evidence of spontaneous regression.

Retinal angiomatosis and pancreatic cysts in von Hippel-Lindau disease: Use of computed tomography scanning for diagnosis and surveillance

Reports of the retinal and pancreatic manifestations of von Hippel-Lindau disease have been previously published. We present a case of von Hippel-Lindau disease in which computed tomography scanning was used in a new manner for diagnosis of retinal disease and for diagnosis and surveillance of pancreatic disease. We emphasize the importance of these new findings and recommend the use of yearly CT scanning of the abdomen. This replaces the previous recommendation of exploratory laparotomy in patients with pancreatic lesions. We further advocate that CT surveillance of the offspring of von Hippel-Lindau disease patients begin in the second decade, with the anticipation of curing potentially serious, blinding, or life-threatening lesions.

Von Hippel-Lindau Disease: A Familial, Often Lethal, Multi-System Phakomatosis

A review of 36 cases of von Hippel-Lindau disease underscores the important role of the ophthalmologist in evaluating this phakomatosis. Retinal angiomatosis occurred in almost two-thirds of those affected, was usually diagnosed before other target organs, and frequently led to decreased visual acuity. Common non-ophthalmic manifestations included cerebellar (69%), medullary (11%) and spinal (8%) hemangioblastoma, renal cell carcinoma (22%), and polycythemia (17%). Pheochromocytoma was a less common association. The most common causes of death were cerebellar hemangioblastoma and renal cell carcinoma.For the surveillance of suspected von Hippel-Lindau victims, a detailed family history and retinal examination is recommended. Essential laboratory tests include a complete blood count and computed tomography of the head, upper cervical region, and abdomen. Periodic pre-symptomatic screening is imperative for follow-up investigation of affected individuals to determine possible additional occult manifestations and of non-affected family members at risk to von Hippel-Lindau disease.

Von Hippel-Lindau disease simulating polycystic kidney disease

Polycystic kidney disease and the renal manifestations of von Hippel-Lindau disease have much in common. Making the distinction between these two diseases is important. There is a strong association of renal cell carcinoma with von Hippel-Lindau disease, whereas renal cell carcinoma is rare in polycystic kidney disease. Furthermore, the many extrarenal manifestations of von Hippel-Lindau disease are serious and can be fatal while those of polycystic kidney disease are generally benign. Early diagnosis of the lesions of von Hippel-Lindau disease could lead to effective surgical treatment and prevent death. A case of von Hippel-Lindau disease is presented which was incorrectly diagnosed as polycystic kidney disease for sixteen years. The case is instructive in that the possibility of making the correct diagnosis prior to the patient's terminal illness was only through careful assessment of the family. The case is also remarkable in that the patient suffered from progressive renal failure requiring hemodialysis, which has not been associated previously with von Hippel-Lindau disease.

Pituitary hemangioblastoma in a patient with von Hippel-Lindau disease. Case report.

✓ A case of von Hippel-Lindau disease is described in which a pituitary hemangioblastoma was present as well as a cerebrovascular anomaly.