Pathlet- By: Daniel Hans
Dx: Hemangioblastoma
55-year-old male. Fall 2008. San Francisco, CA.
Dexter Morgan, a 55-year-old male, presents to you, a KCUMB alumni after a frustrating course of seemingly misdiagnoses and getting ‘the run-around’ from physicians that he has seen in the area. His symptoms, although they did not start out as severe, have slowly and steadily progressed and are now greatly affecting his life. 4 years ago, at the age of 51, he began noticing balance and equilibrium issues that caused him to feel dizzy. He shared these symptoms with his primary care physician, who referred him to an ENT. After a quick exam, the specialist provided a working diagnosis of benign positional vertigo, and preformed some inpatient procedures, which provided no relief. Although his issues with equilibrium were annoying, Mr. Morgan did not get seriously worried about the state of his health until one year ago when he began having trouble walking, standing, and moving in a coordinated manner. At this point, he demanded to see a “better” doctor at a prestigious institution that could provide him with answers.
The new doctor he saw, Dr. McEgo, MD from a large academic teaching hospital, said his symptoms were “classic” early onset Parkinson’s disease and started him on an array of medications. After giving the medications a fair run, no improvement in his symptoms were seen. Dr. McEgo, MD explained to Mr. Morgan that not everyone responded to medication and there was really nothing more that could be done. Mr. Morgan, who was at his wits end and beginning to lose hope, called your office to get one final chance at figuring out what was really wrong with him.
Upon seeing Mr. Morgan for the first time, what is your priority in the initial assessment?
Answers:
1. get established and build a rapport; reassure patient
2. obtain a through history and preform a complete physical exam
3. order baseline labs
After getting a full history and preforming a physical exam, you discover that Mr.
Morgan suffers from a rare disease, von Hipple-Lindau. With this new information, what is new highest differential diagnosis on your list?
Answer: tumor process
Good! In Von Hipple-Lindau syndrome, the von Hippel-Lindau protein is dysfunctional. Normally, the protein is involved in the inhibition of hypoxia inducable factor 1α. When left unchecked, hypoxia inducible factor 1α causes the production of factors, which act to stimulate growth of cells within tumors.
1

Given this new information and taking into account Mr. Morgan’s history or present illness, what is the most likely next step?
Answer: CT of the head with contrast.
[insert CT picture showing mass in cerebellum]
Woah! How was that missed? What department is likely going to be the one you consult?
Answer: Oncology/Neurosurgery
After consulting with the friendly neighborhood neurosurgeon and oncologist, everyone agrees that the tumor needs to be cut out; sooner rather than later. The next morning Mr. Morgan goes into surgery where the neurosurgeon successful resects the tumor. Tissue samples are sent to pathology and the next afternoon, the following slides are produced. What’s your best diagnosis?
Answer: Hemangioblastoma
[insert histological picture of hemangioblastoma]
Hemangioblastoma. Good job! Prognosis is guarded for Mr. Morgan, because hemangioblastomas associated with von Hipple-Lindau often recur after surgical resection. Although this news was not favorable, Mr. Morgan was relieved that he finally has answers. Mr. Morgan thanks you and decides to live every day to its fullest.
Resources
1. Kaelin, William G (2005). "von Hippel–Lindau-associated malignancies:
Mechanisms and therapeutic opportunities". Drug Discovery Today: Disease
Mechanisms 2 (2): 225–231.