Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

An autopsy case of leptomeningeal amyloidosis associated with transthyretin Gly47Arg mutation

Takuya Uehara, M.D.1)2), Keita Kakuda, M.D.1)2), Hisae Sumi-Akamaru, M.D., Ph.D.2), Amane Yamauchi, M.D., Ph.D.3), Hideki Mochizuki, M.D., Ph.D.2) and Takashi Naka, M.D., Ph.D.1)

1)Department of Neurology, Higashiosaka City General Hospital
2)Department of Neurology, Osaka University Graduate School of Medicine
3)Department of Pathology, Higashiosaka City General Hospital

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.
Full Text of this Article in Japanese PDF (908K)

(CLINICA NEUROL, 56: 777|780, 2016)
key words: transthyretin amyloidosis, familial amyloid polyneuropathy, leptomeningeal amyloidosis, autopsies

(Received: 10-May-16)