Hostname: page-component-cd9895bd7-mkpzs Total loading time: 0 Render date: 2024-12-27T06:32:55.816Z Has data issue: false hasContentIssue false
  • English
  • Français

Porphyric Neuropathy: An Ultrastructural and Quantitative Case Study

Published online by Cambridge University Press:  18 September 2015

P.S. Thorner ,
J.M. Bilbao ,
A.A.F. Sima  and
S. Briggs
P.S. Thorner
Affiliation:
St. Michael’s Hospital, Toronto General Hospital and The University of Toronto, Canada
J.M. Bilbao
Affiliation:
St. Michael’s Hospital, Toronto General Hospital and The University of Toronto, Canada
A.A.F. Sima*
Affiliation:
St. Michael’s Hospital, Toronto General Hospital and The University of Toronto, Canada
S. Briggs
Affiliation:
St. Michael’s Hospital, Toronto General Hospital and The University of Toronto, Canada
*
Division of Neuropathology, Department of Pathology, Banting Institute, 100 College Street, Toronto, Ontario, Canada M5G 1L5
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

We report a case of acute neuropathy in a 46 year old female with porphyria variegata. Histologic, electron microscopic, and quantitative examinations of peripheral nerves were performed at onset of the neuropathy and at autopsy. The results revealed severe qualitative and quantitative changes in myelinated and unmyelinated fibers showing features indicative of an axonopathy with a distribution in keeping with a dying-back phenomenon.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 8 , Issue 4 , November 1981 , pp. 281 - 287
Copyright
Copyright © Canadian Neurological Sciences Federation 1981

References

Anzil, A.P. & Dozic, S., (1978). Peripheral nerve changes in porphyric neuropathy: Findings in a sural nerve biopsy. Acta Neuropath. (Berl.) 42: 121–126.CrossRefGoogle Scholar
Becker, D.M., Viljoen, J.D., & Katz, J., et al. (1977). Reduced ferrochelatase activity: A defect common to porphyria variegata and protoporphyria. Br. J. Hematol 36: 17–79.CrossRefGoogle ScholarPubMed
Becker, D.M., & Kramer, S., (1979). The neurological manifestations of porphyria: A review. Medicine 56: 411–423.Google Scholar
Berg, M., (1945). Acute porphyria. Clinical and pathological observations. Arch Intern Med. 76: 335–340.Google Scholar
Bloomer, J.R., (1976). The hepatic porphyrias. Gastroenterology 71: 698–700.Google Scholar
Brodie, M.J., Thompson, G.G. & Moore, M.R., et al: (1976). The enzyme abnormalities of the hepatic porphyrias. Gut 17: 823.Google Scholar
Brown, M.J., Martin, J.R., & Asbury, A.K.: (1976). Painful diabetic neuropathy. A morphometric study. Arch Neurol 33: 164–171.Google ScholarPubMed
Campbell, J.A.H., (1963). The pathology of South African genetic porphyria. S. Afr J. Lab Clin Med. 9: 197–203.Google Scholar
Cavanagh, J.B., (1979). The “Dying Back” process. A common denominator in many naturally occurring and toxic neuropathies. Arch Pathol Lab Med 103: 659–664.Google Scholar
Cavanagh, J.B., & Mellick, R.S., (1965). On the nature of the peripheral nerve lesions associated with acute intermittent porphyria. J Neurol Neurosurg Psychiat 28: 320–327.CrossRefGoogle ScholarPubMed
Cavanagh, J.B., & Ridley, A.R., (1967). The nature of the neuropathy complicating acute intermittent porphyria. Lancet 2: 1023–1024.CrossRefGoogle ScholarPubMed
Denny-Brown, D., & Sciarra, D., (1945). Changes in the nervous system in acute porphyria. Brain 68: 1–16.CrossRefGoogle Scholar
Dyck, P.J., Lais, A.L., Karnes, J.L., Sparks, M., Hunder, H., Low, P.A., & Windebank, A.J., (1981). Permanent axotomy, a model of axonal atrophy and secondary segmental demyelination and remyelination. Ann. Neurol. 9: 575–589.CrossRefGoogle Scholar
Eales, L., & Linder, G.C., (1962). Porphyria — the acute attack. An analysis of 80 cases. S Afr Med J. 36: 284–292.Google ScholarPubMed
Eales, L., (1963). Porphyria as seen in Cape Town. A survey of 250 patients and some recent studies. S. Afr J Lab Clin Med 9: 151–161.Google Scholar
Eisen, A., Carpenter, S., Karpati, G., Bellavance, A., (1973). Effect of muscle hyper- and hypoactivity upon fiber diameter of intact and regenerating nerve. J Neurol Sci 20: 457–469.CrossRefGoogle Scholar
Felix, A.I., & Sima, A.A.F., (1981). The effect of tetraphenylporphinesulfonate (TPPS) on muscle end-plate in mice. An ultrastructural and quantitative study. Submitted to Acta Neuropath. (Berl).Google Scholar
Flügel, K.A., & Kruschky, K.F., (1977). Electromyogram and nerve conduction in patients with acute intermittent porphyria. J Neurol 214: 267–270.CrossRefGoogle ScholarPubMed
Gibson, J.B., & Goldberg, A., (1956). The neuropathology of acute porphyria. J Path Bact 71: 495–508.Google ScholarPubMed
Goldberg, A., (1959). Acute intermittent porphyria. Quart J Med 28: 183–209.Google ScholarPubMed
Kramer, S., Becker, D., & Viljoen, D., (1973). Significance of the porphyrin precursors, delta-ALA and porphobilinogen in the acute attacks of porphyria. S Afr Med J 47: 1735–1738.Google ScholarPubMed
Robertson, D.M., & Sima, A.A.F., (1980). Diabetic neuropathy in the mutant mouse (C57BL/KS [db/db]). A morphometric study. Diabetes 29: 60–67.CrossRefGoogle Scholar
Schoental, R., & Cavanagh, J.B., (1977). Mechanisms involved in the “dyingback” process — a hypothesis implicating coenzymes. Neuropath Appl Neurobiol 3: 145–157.Google Scholar
Shanley, B.C., Neething, A.C., & Perry, V.A., et al (1975). Neurochemical aspects of porphyria. Studies on possible aspects of delta-ALA. S Afr Med J 49: 576–580.Google Scholar
Spencer, P.S., & Schaumburg, M.D., (1977). Central-peripheral distal axonopathy — The pathology of dying-back polyneuropathies. Progress in Neuropath 3: 253–295.Google Scholar
Sima, A.A.F., (1980). Peripheral neuropathy in the spontaneously diabetic BB-Wistar rat. An ultrastructural study. Acta Neuopath (Berl) 51: 223–227.CrossRefGoogle ScholarPubMed
Sima, A.A.F., Kennedy, J.C., Blakeslee, D., & Robertson, D.M., (1981). Experimental porphyric neuropathy. A preliminary report. Can J Neurol Sci 8: 105–114.CrossRefGoogle ScholarPubMed
Sima, A.A.F., & Robertson, D.M., (1979). Peripheral neuropathy in the diabetic mutant mouse (C57 BL/Ks [db/db]). An ultrastructural study. Lab Invest 40: 627–632.Google Scholar
Sweeney, V.P., Pathak, M.A., & Asbury, A.K., (1970). Acute intermittent porphyria. Increased delta-ALA synthetase activity during an acute attack. Brain 93: 369–380.CrossRefGoogle Scholar
Tschudy, D.P., Valsamis, M., and Magnussen, C.R., (1975). Acute intermittent porphyria: Clinical and selected research aspects. Ann Int Med 83: 851–864.CrossRefGoogle ScholarPubMed
Wochnik-Dyjas, D., Niewiadamska, M., & Kostrzewska, E., (1978). Porphyric polyneuropathy and its pathogenesis in the light of electrophysiological investigations. J Neurol Sci 35: 243–256.CrossRefGoogle ScholarPubMed