Case Study
A rare case of von Hippel Lindau disease
Von Hippel Lindau disease is a rare disease characterized by the formation of tumors, which may be cancerous or non- cancerous and fluid-filled sacs in different parts of the body like kidney, pancreas, genital tract. The incidence of the disease is estimated to be 1 in 36,000 individuals. VHL is a tumor suppressor gene, mutations in this gene lead to abnormal growth of cells forming tumors, cysts that are characteristic of Von Hippel Landau disease. Non-cancerous tumors called hemangioblastomas, which are growth made up of abnormally formed blood vessels are characteristic of this disease, which if develop in the brain, spinal cord causes headache, vomiting, weakness, ataxia and in the retina causes retinal hemangioma. People are also at risk of developing renal cell carcinoma, pheochromocytoma, and tumors in the inner ear. Being a multisystem disease, diagnosis is made by doing genetic testing, ultrasound abdomen, radiological examination like CT, MRI of various organs and treatment is by doing surgery which can be minimally invasive and laser surgery, chemotherapy, immunotherapy. We report a case of Von Hippel Lindau Disease. A 27-year-old lady presented with headache, 3-4 episodes of vomiting which was non-bilious, non-projectile in nature. She had one episode of generalized tonic-clonic seizure which was associated with rolling of eyes and frothing of mouth. USG abdomen revealed asymmetric pancreatic cyst, mass lesion in the superior pole of left kidney suggestive of renal cell carcinoma, as her father also died due to renal cell carcinoma. Radiology reports showed a well defined cystic lesion in the left cerebellar hemisphere suggestive of cerebellar hemangioblastoma for which craniectomy was done. The patient was put on tablets Pan, Luperitin, Oxevion, Dexona and was advised to review to urology, neurosurgery department if any new onset deficits.
Published by: Kanika Deora, Dr. Girish Mennon
Author: Kanika Deora
Paper ID: V5I2-1946
Paper Status: published
Published: April 30, 2019
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