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 enhanced magnetic resonance imagi...

  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...

Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of a non-functional superior mediastinal paraganglioma in a patient with von Hippel-Lindau syndrome, without a familial...

background von hippel-lindau (vhl) disease is a hereditary, autosomal dominant syndrome which is manifested by a range of different benign and malignant tumors. this disease can present with different clinical presentations such as; retinal angioma (ra), hemangioblastoma (hb) of the central nervous system (cns), pheochromocytoma (pheo), and epididymal cystadenoma. tumors are usually accompanied...

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 25-year-old male patient presented with a one-month history of progressive right visual loss. Magnetic resonance imaging showed 20x18 mm cystic lesion which has a mural nodule component with contrast and arisen from optic chiasm, optic nerve and optic tract. Right frontotemporal craniotomy was performed and tumor was totally resected. The histological diagnosis was hemangioblastoma. The patie...

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...

CONTEXT Extrahepatic biliary obstruction secondary to pancreatic cysts is rare in patients with von Hippel Lindau syndrome. We describe a patient with von Hippel Lindau syndrome who had biliary obstruction due to pancreatic cysts who was initially managed endoscopically and then surgically. CASE REPORT A female patient with von Hippel Lindau syndrome which had been diagnosed ten years earlier...

LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...