An autopsy case of leptomeningeal amyloidosis associated with transthyretin Gly47Arg mutation

Abstract

We report the case of a 47-year-old woman with a 4-year history of progressive numbness in the distal portions of both her lower limbs, diarrhea alternating with periods of constipation, and orthostatic syncope. She demonstrated sensory dominant neuropathy and dysautonomia including orthostatic hypotension, paralytic ileus, and urinary retention. A systemic mutation analysis revealed a G47R mutation in transthyretin (TTR). Her general condition was so poor that we could not perform active treatment. Her consciousness had been impaired for a few months. She died at the age of 47 due to multiple organ failure. An autopsy revealed amyloid deposits in the subarachnoid space of the brainstem and the spinal cord as well as in the peripheral nerve and other organs. To date, this is the first case in which a G47R mutation is associated with leptomeningeal amyloidosis.