Summary
A 41-year-old Japanese male with a new type of primary familial amyloidosis was reported. The patient developed vitreous opacities, and later, disturbances in the gastrointestinal and nervous systems. At autopsy, amyloid was observed in the vitreous and the retinal vessels. There were extensive cerebral infarcts and heavy meningo-vascular amyloid deposition. Although the postmortem study revealed slight peripheral nerve degeneration in the lower extremities secondary to amyloid deposition, there was no clinical evidence of polyneuropathy.
References
Andrade, C.: A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain75, 408–428 (1952)
Andrade, C., Canijo, M., Klein, D., Kaelin, A.: The genetic aspect of the familial amyloidotic polyneuropathy. Humangenetic7, 163–175 (1969)
Andrade, C., Araki, S., Block, W. D., Cohen, A. S., Jackson, C. E., Kuroiwa, Y., McKusick, V. A., Nissim, J., Sohar, E., Van Allen, M. W.: Hereditary amyloidosis. Arthrit. Rheumat.13, 902–915 (1970)
Araki, S., Mawatari, S., Ohta, M., Nakajima, A., Kuroiwa, Y.: Polyneuritic amyloidosis in a Japanese family. Arch. Neurol.18, 593–602 (1968)
Cohen, A. S.: Amyloidosis. N. Engl. J. Med.277, 522–530, 574–583, 628–638 (1967)
Mahloudji, M.: The genetic amyloidosis, with particular reference to hereditary neuropathic amyloidosis, Type II (Indiana or Rukavina type). Medicine48, 1–37 (1969)
Okayama, M., Goto, I., Ogata, J., Omae, T., Yoshida, I., Inomata, H.: Primary amyloidosis with familial vitreous opacities, An unusual case and families. Arch. Int. Med.138, 105–111 (1978)
Rukavina, J. G., Block, W. D., Jackson, C. E., Falls, H. F., Carey, J. H., Curtis, A. C.: Primary systemic amyloidosis; a review and experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine35, 239–334 (1956)
Silva Horta, J. da: Portuguise polyneurotic familial type of amyloidosis. Path. Microbiol. (Basel)27, 809–825 (1964)
Van Allen, M. W., Frohlich, J. A., Davis, J. R.: Inherited predisposition to generalized amyloidosis. Neurol.19, 10–25 (1969)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ogata, J., Okayama, M., Goto, I. et al. Primary familial amyloidosis with vitreous opacities. Acta Neuropathol 42, 67–70 (1978). https://doi.org/10.1007/BF01273271
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01273271