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Acta Neuropathologica

, Volume 38, Issue 3, pp 187–194 | Cite as

Ultrastructure of muscle and sensory nerve in Fabry's disease

  • F. M. S. Tomé
  • M. Fardeau
  • G. Lenoir
Original Investigations

Summary

A study of a muscle biopsy has provided evidence of storage involvement of the skeletal muscle fibres in Fabry's disease. In the endothelial cells of the capillaries, the inclusions were more abundant and pleomorphic. Muscle satellite cells were spared. In the sensory nerve biopsy, the perineurial and endothelial cells contained lamellar bodies, but not the Schwann cells. There was a slight reduction of the number of the small myelinated fibres and of the unmyelinated fibres. An electron microscopic study of a muscle biopsy can be helpful in the diagnosis of the disease. The physiopathology of the pain attacks is still a matter for discussion.

Key words

Fabry's disease Muscle biopsy Nerve biopsy Electron microscopy Lamellar bodies 

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References

  1. Atzpodien, W., Kremer, G. J., Schnellbacher, E., Denk, R., Haferkamp, G., Bierbach, H.: Angiokeratoma corporis diffusum (Morbus Fabry). Biochemische Diagnostik im Blutplasma. Dtsch.med. Wschr.100, 423–426 (1975)Google Scholar
  2. Becker, A. E., Schoorl, R., Balk, A. G., van der Heide, R. M.: Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Amer. J. Cardiol.36, 829–835 (1975)Google Scholar
  3. Bischoff, A., Fierz, U., Regli, F., Ulrich, J.: Peripher-neurologische Störungen bei der Fabryschen Krankheit (Angiokeratoma corporis diffusum universale): Klinisch-elektronenmikrosko-pische Befunde bei einem Fall. Klin. Wschr.46, 666–671 (1968)Google Scholar
  4. Brady, R. O., King, F. M.: Fabry's disease. In: Peripheral neuropathy (eds. P. J. Dyck, P. K. Thomas, and E. H. Lambert), Vol. II, pp. 914–927. Philadelphia-London-Toronto Saunders 1975Google Scholar
  5. Fardeau, M.: Caractéristiques cytochimiques et ultrastructurales des différents types de fibres musculaires squelettiques extra-fusales (chez l'homme et quelques mammifères). Ann. Anat. path. (Paris)18, 7–34 (1973)Google Scholar
  6. Fardeau, M., Engel, W. K.: Ultrastructural study of a peripheral nerve biopsy in Refsum's disease. J. Neuropath. exp. Neurol.28, 278–294 (1969)Google Scholar
  7. Ferrans, V. J., Hibbs, R. G., Burda, C. D.: The heart in Fabry's disease. A histochemical and electron microscopic study. Amer. J. Cardiol.24, 95–110 (1969)Google Scholar
  8. Fromm, G. H., Killian, J. M.: Effect of some anticonvulsant drugs on the spinal trigeminal nucleus. Neurology (Minneap.)17, 275–280 (1967)Google Scholar
  9. Fukuhara, N., Suzuki, M., Fujita, N., Tsubaki, T.: Fabry's disease: on the mechanism of the peripheral nerve involvement. Acta neuropath. (Berl.)33, 9–21 (1975)Google Scholar
  10. Johnson, D. L., del Monte, M. A., Cotlier, E., Desnick, R. J.: Fabry disease: diagnosis by alpha-galactosidase activities in tears. Clin. chim. Acta63, 81–90 (1975)Google Scholar
  11. Kocen, R. S., Thomas, P. K.: Peripheral nerve involvement in Fabry's disease. Arch. Neurol. (Chic.)22,81–88 (1970)Google Scholar
  12. Ohnishi, A., Dyck, P. J.: Loss of small peripheral sensory neurons in Fabry disease.Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns. Arch. Neurol. (Chic.)31, 120–127 (1974)Google Scholar
  13. Rahman, A. N., Lindenberg, R.: The neuropathology of hereditary dystopic lipidosis. Arch. Neurol. (Chic.)9, 373–385 (1963)Google Scholar
  14. Sung, J. H., Hayano, M., Mastri, A. R., Desnick, R.: Neuropathology of Fabry's disease. Proc. VIIth Int. Cong. Neuropath., Vol. I, pp. 267–270, I.C.S. no. 362. Amsterdam: Excerpta medica and Budapest: Akadémiai Kiadó 1974Google Scholar
  15. Tabira, T., Goto, I., Kuroiwa, Y.,Kikuchi, M.: Neuropathological and biochemical studies in Fabry's disease. Acta neuropath. (Berl.)30, 345–354 (1974)Google Scholar
  16. Theobald, W., Krupp, P., Levin, P.: Neuropharmacological aspects of the therapeutic action of carbamazepine in trigeminal neuralgia. In: Trigeminal neuralgia (eds. R. Hassler and A. Earl Walker, pp. 107–114. Stuttgart: G. Thieme 1970Google Scholar
  17. Thiéry, J. P.: Mise en évidence des polysaccharides sur coupes fines en microscopie électronique. J. Microscopie6, 987–1018 (1967)Google Scholar
  18. Tomé, F. M. S., Fardeau, M.: Ultrastructural study of a muscle biopsy in a case of Gm1 gangliosidosis type I. Path. europ.11, 15–25 (1976)Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • F. M. S. Tomé
    • 1
    • 2
  • M. Fardeau
    • 1
    • 2
  • G. Lenoir
    • 1
    • 2
  1. 1.Service de Mïcroscopie Electronique (I.N.S.E.R.M. U 153), Division RislerHôpital de la SalpêtrièreParisFrance
  2. 2.Clinique des Maladies du Rein et du Métabolisme chez l'EnfantHôpital des Enfants MaladesParisFrance

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