A mother of a 10-year-old girl comes to the office because she is concerned about a new genetic test result. Her daughter has a missense mutation in the VHL gene. Her examination is unremarkable. Periodic surveillance with which of the following is most likely to be of benefit in this patient?

Question

Quizplus · Accepted Answer

Eductional Objective: Von Hippel-Lindau (VHL) disease is an autosomal dominant condition caused by a mutation in a tumor suppressor gene, which is associated with the development of pheochromocytomas, retinal and cerebellar hemangioblastomas, and renal cell carcinomas.  Because of the potential for serious complications from these tumors, patients with VHL should receive annual surveillance, including plasma metanephrines, abdominal imaging, ophthalmologic examination, and MRI of the brain and spine.

A Mother of a 10-Year-Old Girl Comes to the Office