The Von Hippel-Lindau Syndrome

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Topic: Von Hippel Landau Disease Symptoms: Include a discussion of symptoms in individuals heterozygous vs. homozygous for the defective gene if appropriate. Von Hippel-Lindau syndrome is caused by heterozygous mutation in the VHL gene The symptoms of von Hippel-Lindau syndrome are angiomata of the retina (i.e. a tumor consisting of a mass of blood vessels in the retina) and hemangioblastoma (i.e. a tumor) of the cerebellum. There also may be a tumor - Hemangioma in the spinal cord. Pheochromocytoma occurs in some patients. This is indicated by one or more of the following symptoms: Skin sensations Flank pain Elevated heart rate Elevated blood pressure, Palpitations Anxiety often resembling that of a panic attack Diaphoresis (excessive sweating) Headaches Pallor Weight loss The most common symptoms are headache, excessive sweating, and increased heart rate. The combination of hypertension with angioma may lead to subarachnoid hemorrhage (i.e. bleeding in the brain). People with the syndrome also commonly develop cysts in the kidneys, pancreas, and genital tract. About 10% of people with the disease develop noncancerous tumors in the ear which can lead to loss of hearing in the ear as well as ringing in the ears (tinnitus) and loss of balance. (Genetics Home Ref. Von Hippel-Lindau syndrome) Diagnosis: Describe in detail the test or tests use for the prenatal and postnatal diagnosis of the disease. Give general background information about

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