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Inherited Syndrome

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%

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Inherited Syndrome

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  1. Inherited Syndrome

  2. 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

  3. MRI

  4. MRI

  5. MRI

  6. CT

  7. Hemangioblastoma • Uncommon brain tumor of vascular origin • Cerebellum 83% • Spinal cord 13% • Benign • Sporadic tumor • Usually solitary • Von-Hippel-Lindau disease • Frequently multiple tumors

  8. Von-Hippel-Lindau Disease • Autosomal Dominant syndrome • Manifestations include a variety of benign and malignant tumors • Hemangioblastomas • Clear cell renal cell carcinomas • Pheochromocytomas • Endolymphatic sac tumors (middle ear) • Serous cystadenomas and neuroendocrine tumors (pancreas) • Papillary cystadenomas (epididymis and broad ligament)

  9. Surveillance Protocol • Annual Exam that includes: • Plasma catecholamines and abdominal CT w/contrast • Pheochromocytoma • Retinal exam with pupil dilation • Retinal angiomas • MRI of the brain and entire spine with gadolinium • Hemangioblastoma • MRI or CT of the abdomen • Renal cell carcinoma

  10. Post op MRI

  11. Post op CT

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