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  • Title: A rare case of Von Hippel Lindau disease.
    Author: Rohana AG, Norazmi MK, Norlaila M.
    Journal: Med J Malaysia; 2006 Jun; 61(2):254-7. PubMed ID: 16898326.
    Abstract:
    Pheochromocytoma is a rare catecholamine-secreting tumour typically arising within the adrenal medulla. It may occur sporadically or be associated as part of a tumour syndrome including Von Hippel Lindau (VHL), Multiple Endocrine Neoplasia (MEN) 2 and Neurofibromatosis Type 1. VHL is associated with multi-organ involvement of benign and malignant tumours characterized by the presence of retinal angiomas, hemangioblastomas of the cerebellum and spinal cord, renal cell carcinomas, pheochromocytomas and other cystic lesions in the kidneys, pancreas, and epididymis. It is a rare disorder with prevalence estimated at 2-3 per 100,000. This case report describes a 37 years old Chinese gentleman who presented to our institution for further management of bilateral pheochromocytoma and retinal angioblastoma with problems of duodenal ulcer and anaemia. There was no family history of similar problems. With these features the criteria for the diagnosis of von Hippel Lindau disease was established.
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