TYPE-I FAMILIAL AMYLOID NEUROPATHY AND AMYLOIDOSIS - REPORT OF POST-MORTEM STUDY OF A FRENCH CASE

  • 1 January 1983
    • journal article
    • research article
    • Vol. 3  (4) , 293-299
Abstract
The clinical and pathololgic findings of a case of amyloidogenic familial neuropathy type I are presented. The patient died at age 46. The nerve biopsy findings, the clinical evolution and the family history were representative of the condition. Autopsy material revealed amyloid deposits within vessels walls and autonomic nerves of almost all viscera around myofibers in the heart. Kidney glomeruli were markedly involved and numerous obsolescent glomeruli were seen. Lesions of CNS were of interest; enlargement of meningeal vessels walls due to amyloid deposits as subpial deposition band were observed. While distal amyloid deposits were scant, nerve damages were striking. In proximal portions, amyloidosis was found in all layers of nerve structures including the walls of endoneural small vesses. Semi-thin sections revealed rare myelinated fibers entrapped by aggregates of a microfibrillary material. While there was no patient axonal lesion, clusters of regenerating fibers were common. Ultrastructural study confirmed the close relationship between amyloid fibrils, Schwann cell basal laminae and collagen fibers. An immunopathological study using antisera against the AA component of amyloidosis, K and .lambda. L chains and prealbumin were negative. The results are in agreement with reports in the literature. The pathogenesis of this rare affection is discussed.