Von Hippel-Lindau disease.

نویسندگان

  • Stéphane Richard
  • Joyce Graff
  • Jan Lindau
  • François Resche
چکیده

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Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

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Independent segregation of von Hippel-Lindau disease and cerebral cavernomas.

A probable diagnosis of von Hippel-Lindau 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 und...

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Huge pancreas helps diagnosis in von Hippel-Lindau disease.

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 (...

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Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report.

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 ...

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Von Hippel-Lindau disease: delayed presentation as a cerebellar haemangioblastoma in an elderly patient.

Cerebellar haemangioblastomas are rare in the elderly. Those associated with the von Hippel-Lindau (VHL) disease, usually present during the third decade of life. We report an unusually delayed presentation in an 80 year old obligate carrier of VHL gene mutation.

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The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

OBJECTIVES Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impa...

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عنوان ژورنال:
  • Lancet

دوره 363 9416  شماره 

صفحات  -

تاریخ انتشار 2004