نتایج جستجو برای: lindau disease
تعداد نتایج: 1491542 فیلتر نتایج به سال:
In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...
von Hippel-Lindau (VHL) disease is an inheritable condition with an incidence of 1 in 36000 live births. Individuals with VHL develop benign and malignant tumors including retinal and central nervous system hemangioblastomas, clear cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors and endolymphatic sac tumors (ELSTs). VHL is caused by germline loss of functio...
Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...
A probable diagnosis of von HippelLindau disease was made in a two generation family in which the proband had a phaeochromocytoma, renal cysts, and multiple cerebral cavernomas. His sister had multiple similar cerebral vascular lesions and his father died from renal carcinoma aged 42. Although the family did not satisfy the conventional diagnostic criteria for von Hippel-Lindau disease, an unde...
Von Hippel-Lindau disease is a rare, familial disease consisting of multiple tumors, which can present in the eyes, brain, adrenal gland, pancreas, liver, spinal cord, kidneys, or other areas of the body. The renal tumors are primarily renal cell carcinoma. Renal involvement may be the primary manifestation, but most frequently it is a secondary manifestation. This article presents an overview ...
OBJECTIVES Cerebellar haemangioblastoma occurs sporadically or as a component tumour of autosomal dominant von Hippel-Lindau disease. Biallelic inactivation of the VHL tumour suppressor gene, which is located on chromosome 3p, has been shown to be involved in the pathogenesis of both tumour entities. Mechanisms of VHL inactivation are intragenic mutations, mitotic recombination events, and hype...
CONTEXT Von Hippel-Lindau disease is a genetic disorder characterized by neoplasms with multiple organ involvement, the pancreas being involved in about half of the cases. Conservative treatment is indicated because the disease is usually asymptomatic with long-term follow-up. CASE REPORT We herein present the case of a 64-year-old man with von Hippel-Lindau disease who presented with obstruc...
We describe five patients diagnosed with von Hippel-Lindau disease who complained of abdominal distension, pain and discomfort for a long time. All patients underwent ultrasonography, CT scan and MRI, which showed huge pancreas filled with multiple cysts. Additionally, extrapancreatic findings such as cerebellar hemangioblastoma (3 patients), retinal hemangioblastoma (2), renal cell carcinoma (...
Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or...
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