RARE CASE PRESENTAETION: VON HIPPLE LINDAU SYNDROME

Abstract

Introduction: Von Hippel-Lindau syndrome (VHL) is autosomal dominant hereditary syndrome due to germline mutations of the tumor suppressor gene VHL, located on short arm of chromosome 3. 80% have a positive family history and about 20% of cases are de novo. Various multiple benign and malignant tumors occur affecting multiple organ system, central nervous system, kidneys, adrenals, pancreas, and reproductive system. Common manifestations include including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors, pancreatic neuroendocrine tumors, pancreatic cystadenomas, pancreatic cysts, clear cell renal cell carcinomas, renal cysts, pheochromocytomas, paragangliomas, and epididymal and broad ligament cystadenomas. Confirmation of diagnosis is done by genetic testing in clinically and radiologically suspicious patient. A male patient of Case Report: age 30 years presented with cerebellar symptoms 2 year ago and MRI is done MRI reveal cerebellar and spinal hemangioblastoma. Patient is operated for cerebellar hemagioblastoma and histologically confirmed. On follow up study b/l renal cell carcinoma, pancreatic cyst and neuroendocrine tumor is found. VHL is a disease Conclusion: with no cure. Regular follow-up with necessary to follow the previous lesions and detect any newly developed VHL-associate tumors.