A 65-year-old woman had a 12 year progressive history of ascending numbness and tingling of the left, then right side of her body. Multiple physicians were consulted and diagnoses were considered, but the correct diagnosis was not entertained for 8 years until a sural nerve biopsy was performed showing these findings (Figure 1, LFB-PAS, Scale bar 40µm). An autopsy showed these findings in her brain (Figure 2, LFB-PAS, Scale bars 200µm and 40µm). Genetic testing and enzyme activity testing made the diagnosis.
|Matthew (Matt) Ball, D.O., M.S.
|R. Ross Reichard, M.D.
Consultant, Anatomic Pathology
Associate Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science