Presenter
Christopher Newell
Bio
Calgary Neuropathologist
Authors
Christopher Newell1, Kristopher D. Langdon1
1Department of Pathology, University of Calgary, Alberta Precision Laboratories
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
This a peripheral nerve biopsy obtained at autopsy from a 76-year-old male, retired engineer with longstanding neuropathy who elected to undergo Medical Assistance in Dying due to progressive decline.
His medical history includes: nephropathy, cardiomyopathy, COPD, hypothyroidism and stroke.
Discussion points
- Abnormalities?
- Potential diagnosis?
- Further studies to help confirm diagnosis?
Reveal Diagnosis
Fabry Disease
Additional relevant investigations and comment:
– Electron microscopic images will be presented
– Galactosidase alpha gene mutation; c. 1012G>A / E338K
0 Comments