Pheochromocytoma

Overview:

This relates to one of the early hypothesis that has since been definitively ruled out.

Background:

Pheochromocytome ("Pheo") is a rare tumor of the adrenal gland tissue that causes acute spikes in blood pressure and could also conceivably explain the seizures.

Pheo was considered early on as a diagnosis. Tests in 2010 indicated normal metanephrine and urine catecholamine levels, and the condition was considered to be ruled out.

An adrenal mass was found on on subsequent imaging. It was suggested that the tests for pheo be repeated.

We emailed some of the top specialists in the country, and immediately received a response from the National Institute of Health. NIH is the largest center in the country for pheo research.

The patient had a consult and a full workup with Dr. Karel Pacak, the principal investigator for the pheo program at NIH. The test performed at NIH included FDG Pet scan, FDOPA PET scan, MRI, serum metanephrine and catecholamines tests.

The test results from the plasma metanephrines were negative. They results from the metoxytyramine test will take a few more weeks. However, based on the negative mets the researchers at NIH feel it is clear that this is not a case of pheo.

Follow Up:

Dr. Pacak is clear and definitive in his opinion that the patient does not have pheo. The adrenal mass is likely an incidentalomas (incidental findings that are not the cause of the clinical symptoms).

There does appear to be an area of the mass that is slightly necrotic, and this could potentially be the remnants of some type of infection.

Action Plan:

Based on Dr. Pacak's evaluation, pheo has been definitively ruled out. We have no further questions or actions for this hypothesis. We will be moving the focus to the potential for an infection triggering these symptoms.