Neurotologic manifestations of von Hippel Lindau disease

Von Hippel Lindau disease is a hereditary phakomatosis characterized by congenital angiomatosis of the retina and cerebellum. This autosomal dominant syndrome exhibits variable penetrance and expressivity. Because of the marked clinical variability and sporadic age of onset, members of affected families must be counseled and screening protocols established. It has been recommended that initial screening include appropriate laboratory work, ophthalmologic and neurologic examination, radiologic evaluation of the CNS, and when appropriate, abdominal ultrasound. Follow-up examination should be annually with acute evaluations as focal signs and symptoms develop. With the help of technological advances and screening of family members, patients with vHL disease can live long, productive lives with reduced morbidity.