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Inherited Syndrome

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Inherited Syndrome. History. 55 year old female presents with headaches, slurred speech and changes in short-term memory Pt also complained of gait abnormalities H/o renal cell carcinoma. MRI. MRI. MRI. CT. H emangioblastoma. Uncommon brain tumor of vascular origin Cerebellum 83% - PowerPoint PPT Presentation

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Inherited SyndromeHistory55 year old female presents with headaches, slurred speech and changes in short-term memoryPt also complained of gait abnormalitiesH/o renal cell carcinomaMRI

MRI

MRI

CT

HemangioblastomaUncommon brain tumor of vascular originCerebellum 83%Spinal cord 13%BenignSporadic tumor Usually solitaryVon-Hippel-Lindau diseaseFrequently multiple tumorsVon-Hippel-Lindau DiseaseAutosomal Dominant syndromeManifestations include a variety of benign and malignant tumors HemangioblastomasClear cell renal cell carcinomasPheochromocytomasEndolymphatic sac tumors (middle ear)Serous cystadenomas and neuroendocrine tumors (pancreas)Papillary cystadenomas (epididymis and broad ligament)Surveillance ProtocolAnnual Exam that includes:Plasma catecholamines and abdominal CT w/contrast PheochromocytomaRetinal exam with pupil dilation Retinal angiomasMRI of the brain and entire spine with gadoliniumHemangioblastomaMRI or CT of the abdomenRenal cell carcinoma

Post op MRI

Post op CT