[Hereditary neuropathic Portuguese type of amyloidosis (author's transl)].
Report of a 35 year old male with hereditary neuropathic amyloidosis of the portuguese type, the second known case in Germany. There are extensive nodular Congo red positive amyloid deposits in the endoneurium of the peripheral nerves which lead to displacement, compression atrophy and interruption of the endoneural fascicles. The amyloid fibril structure is specially noted by interference contrast microscopy. It can also be documented in unstained microscopic sections. Further extensive nodular deposits are present in the mesangium of the glomerula. The remaining organs show preponderantly affected vessel walls and collagen fibres.
D000328:Adult; D000686:Amyloidosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D010525:Peripheral Nerves / Q000473:pathology; D011115:Polyneuropathies / Q000235:genetics / Q000473:pathology*; D011174:Portugal
Hereditäre neuropathische Amyloidose vom portugiesischen Typ