Table of Contents
Washington University Experience | PERIPHERAL NEUROPATHY | 14 AMYLOID NEUROPATHY | 1A0 Case 1 History - Copy
Case 1 History ---- The patient is a 49-year-old woman with IgG lambda ALH amyloidosis and electrodiagnostic evidence of a sensorimotor axonal polyneuropathy with concurrent parasympathetic dysfunction. She has long standing hearing loss, vestibular dysfunction,and corneal lattice dystrophy. Genetic testing showed a suspicious intronic variant (c.1478+4A>G) in gelsolin. A prior skin biopsy showed severely reduced intraepidermal nerve fiber density at the distal leg and distal thigh and amyloid deposition in multiple sections. Prior excision biopsies of a right post-auricular muscle and right mastoid in 2021 showed features of ALH-type amyloid deposition (lambda light chain and gamma heavy chain). This nerve biopsy was performed to evaluate for amyloid deposition in nerve tissue.
