Diagnosis of Rare Brain Disease Requires Combined Diagnostic Approach

According to the Mayo Clinic, diagnosing of the rare blood disease, Primary Central Nervous System Vasculitis, requires the combined effort of two distinct diagnostic techniques. PCNSV is a rare and unfamiliar blood vessel disorder. This disease often attacks the brain and spinal cord. If not diagnosed and treated promptly, the disease can lead to stroke or death. Identification of this disease is best done by a combination of angiography (imaging of the cerebral arteries) brain biopsy and other laboratory studies.

Diagnosing of this suspect disease usually is based on a combination of symptoms and medical procedures. When the result of brain imaging with CT or MRI testing along with headaches, vision problems, altered cognition or a stroke in combination are diagnosed, the disease may be the final prognosis. The disease mimics many other less severe and life threatening medical conditions and so often is misdiagnosed. It is not a single disease, but a variable syndrome appearing to consist of several distinct subsets evident in several different diseases. For this reason, the Mayo Clinic recommends thorough testing. If recognized and understood early from the onset, with treatment, curing of the patient is almost guaranteed.

Over a twenty-one year period, the Mayo Clinic has seen and diagnosed more than 101 patients with Primary Central Nervous System Vasculitis. The number diagnosed at this location represents the largest group of patients diagnosed anywhere with this disorder. The report of their defined research appears in the current issue of Annals of Neurology.

The significant findings and results of the Mayo Clinic research are:

PCNSV is a rare and minimally understood disease. Very few medical centers have seen patients with or accurately diagnosed the disorder to collect data.

If diagnosed early, the potential for complications that are more serious or death are drastically reduced. If a blood vessel malfunctions, blood flow and oxygen supplied to the brain or spinal cord is disrupted. The result: A stroke.