Peripheral nerve findings in hereditary coproporphyria. Light and ultrastructural studies in two sural nerve biopsies.
In spite of several cases reported in the literature, the exact pathogenetic mechanism of neuropathic changes in porphyric neuropathy remains uncertain. Various authors have ascribed the neuropathologic findings to either a dying-back axonal degeneration or segmental demyelination. In recent years, the hypothesis of an axonal and myelinic disorder has received support by the demonstration of a combined and simultaneous involvement of both these structures. Such different opinions are also a consequence of the reduced number of detailed bioptic observations in the different forms of acute porphyria not only during acute phases but also between attacks. In this paper we report the results of light- and electron-microscopic examination of two sural nerve biopsies from subjects with hereditary coproporphyria. The first was performed 6 months after an acute attack, the second specimen was obtained from a patient without acute attacks, who had clinical and electrophysiologic signs of a chronic progressive neuropathy. In both cases a dying-back axonal degeneration is considered the primary change. The pathogenetic mechanism of peripheral nerve lesions in porphyric neuropathy will be discussed finally.
D000328:Adult; D005243:Feces; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath / Q000648:ultrastructure; D009410:Nerve Degeneration; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology* / Q000648:ultrastructure; D011164:Porphyrias / Q000235:genetics* / Q000473:pathology; D012583:Schwann Cells / Q000648:ultrastructure