Certified Neuroscience Registered Nurse (CNRN) Practice Exam

What does Von-Hippel Lindau disease primarily lead to?

1. Malignant tumors

2. Benign hemangiomas

3. Neural tube defects

4. Limb abnormalities

The correct answer is: Benign hemangiomas

Von-Hippel Lindau disease is primarily characterized by the development of benign hemangiomas, particularly hemangioblastomas, which affect the central nervous system as well as the retina. This genetic condition results from mutations in the VHL gene, leading to abnormal capillary growth and the formation of vascular tumors. The presence of these benign tumors is central to diagnosing Von-Hippel Lindau disease, alongside other associated lesions such as renal cell carcinoma and pheochromocytomas, which are more malignant but not the primary focus of the condition itself. The distinctive hemangiomas are often the most impactful on quality of life, prompting surveillance and management strategies to mitigate risks associated with tumor growth even though they are benign. The other potential answers relate to conditions not typically associated with Von-Hippel Lindau disease. Malignant tumors can occur as a consequence but are not the primary outcome. Neural tube defects and limb abnormalities are unrelated to the pathophysiology of this genetic disorder.