Histopathological findings of familial amyloidosis with cranial neuropathy as principal manifestation. Report on three cases.

Abstract

A report is given of the histopathological findings in three cases of familial amyloidosis syndrome, presenting neurological and other symptoms, of which progressive facial nerve paralysis and lattice dystrophy of the cornea predominated. The patients were two females, 59 and 67 years of age, and one male of 79 years. The first patient had polycythaemia vera and died of myeloid leukaemia, the second suffered from bulbar paralysis for several years and died of cerebral haemorrhage. The third case died of pneumonia. Amyloid was observed in nearly every organ studied. It was localized mainly in the intima and the media of the arteries and capillaries, in most organs in the basement membranes as well. Arteries totally obliterated by amyloid deposits were found in the parotic gland, the rectum and the spleen. The glomeruli were markedly affected and the muscle tissue of the heart to a minor degree. Moderate deposits of amyloid were also found in the perineurium and the endoneurium of most peripheral nerves studied. However, clinically the cranial nerves were the most affected, and in one case, a branch of the facial nerve was totally replaced by amyloid. Apart from the amyloid deposits in the meninges and arteries, only changes typical of unspecific senile involution were noted in the examination of the central nervous system. The corneas and especially the anterior parts of the sclera were also affected.