Familial Primary Amyloidosis with Nervous System Involvement

Abstract

Primary amyloidosis is a rare systemic disease, usually involving tissues of mesodermal origin, and death is commonly the result of cardiac changes. The tiology is not known, and an inherited tendency has been reported on only two occasions. A family is reported in which 3 members showed a similar syndrome consisting of a severe peripheral neuropathy with sphincteric disturbances and trophic lesions, cerebrospinal fluid alterations, gastrointestinal symptoms, exophthalmos with vitreous opacities, endocrine changes, and cardiac abnormalities. Autopsies on 2 members of the family showed evidence of primary amyloidosis with nervous system involvement.