children s health issues
Von Hippel–Lindau Disease (VHL)
Introduction
Von Hippel-Lindau disease is a rare hereditary disorder that causes noncancerous and/or cancerous tumors to develop in several organs. Von Hippel-Lindau disease is caused by mutations in a gene. Children may have headaches, impaired vision, or high blood pressure and feel dizzy or weak. Doctors suspect the disorder based on the person’s family history and results of a physical examination, then do imaging and other tests to check for tumors and other problems. Tumors are removed surgically, treated with radiation, or destroyed using a laser or application of extreme cold. Von Hippel-Lindau disease is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous). The gene that causes von Hippel-Lindau disease has been identified. Only 1 gene for the disorder—from 1 parent—is required for the disorder to develop. Each child of an affected parent has a 50% chance of inheriting the disorder. In 20% of people with this disorder, it results from a spontaneous new (not inherited) mutation. This disorder occurs in 1 of 36,000 people. In von Hippel-Lindau disease, tumors most commonly develop in the brain and retina of the eyes. These tumors, called angiomas, consist of blood vessels. Other types of tumors develop in other organs and include tumors in the adrenal glands ( Pheochromocytoma ) and cysts in the kidneys, liver, or pancreas. As people with the disorder age, the risk of developing Kidney Cancer increases. By age 60, the risk may be as high as 70%. 