A congenital myopathy of unknown origin

Levy, J. A.; Macha, N.; Toledo, A. M. S.; Reinach, F. C.; George, L. L.

doi:10.1590/S0004-282X1977000400003

Abstracts

Parallel with the clinical and histochemical investigations, an ultrastructural examination of a muscle biopsy specimen was made, in order to detect any slight cellular alterations which cannot possibly be discovered through any other methods, and to identify a muscle disease of unknown origin.

É relatado um caso de miopatia no qual o quadro clínico difere dos comumente observados nas miopatias descritas na literatura. Paralelamente aos exames clínicos, foram feitas análises histoquímicas e ultra-estruturais de uma biópsia de quadriceps, a fim de detectar alterações celulares que não poderiam ser evidenciadas mediante outros métodos de estudo. Os resultados, juntamente com os dados obtidos nos exames clínicos, são discutidos e analisados, numa tentativa de identificar uma miopatia de origem desconhecida.

A congenital myopathy of unknown origin

Miopatia congênita de origem desconhecida

J. A. Levy^I; N. Macha ^II; A. M. S. Toledo^III; F. C. Reinach^IV; L. L. George^V

^IAssociated Professor. From the Instituto de Ciências Biomédicas of the Universidade de São Paulo, Histochemical Laboratories

^IIAssistent Professor. From the Electron Microscope Laboratories; Center of Neurological Investigation of the Medical School of the Universidade de São Paulo

^IIIAssistent Professor; Center of Neurological Investigation of the Medical School of the Universidade de São Paulo

^IVBolsista da FAPESP

^VAssistent Professor. Center of Neurological Investigation of the Medical School of the Universidade de São Paulo

SUMMARY

Parallel with the clinical and histochemical investigations, an ultrastructural examination of a muscle biopsy specimen was made, in order to detect any slight cellular alterations which cannot possibly be discovered through any other methods, and to identify a muscle disease of unknown origin.

RESUMO

É relatado um caso de miopatia no qual o quadro clínico difere dos comumente observados nas miopatias descritas na literatura. Paralelamente aos exames clínicos, foram feitas análises histoquímicas e ultra-estruturais de uma biópsia de quadriceps, a fim de detectar alterações celulares que não poderiam ser evidenciadas mediante outros métodos de estudo. Os resultados, juntamente com os dados obtidos nos exames clínicos, são discutidos e analisados, numa tentativa de identificar uma miopatia de origem desconhecida.

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

Clínica Neurológica - Faculdade de Medicina da Universidade de São Paulo - Caixa Postal 3461 - 01000 São Paulo, SP - Brasil.

1. BRADLEY, W. G.; HUDGSON, P.; GARDNER-MEDWIN, D. & WALTON, J. N. - A new myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet I: 495, 1969.
2. DE HARVEN, E. - Methods in electron microscope cytology. In Methods in cancer research. Academic Press, New York, 1967, vol. 1, pag. 3.
3. HOLMES, J. M.; HOUGHTON, C. R. & WOOLF, A. L. - A myopathy presenting in adult life with features suggestive of glycogen storage disease. J. Neurol. Neurosurg. Psychiat. 23:302, 1960.
4. KARPATI, G.; CARPENTER, S.; WOLFE, L. S. & SHERWIN, A. - A peculiar polysaccharide accumulation in muscle in a case of cardiosqueletal myopathy. Neurology (Minneapolis) 19:553, 1969.
5. LUFT, J. H. - Improvements in epoxy embedding methods. J. biophis. biochem. cytol.. 9:409. 1961.
6. PEARSE, A. G. E. - Histochemistry: Theoretical and Applied. J. A. Churchill Ltd., London, 1968, vol. 1, pags. 307 and 672.
7. REYNOLDS, E. S. - The use of lead citrate at high pH as an electron opaque stain in electron microscope. J. Cell Biol. 17:208, 1963.
8. ROWLAND, L. P.; DE MAURO, S. & BANK, W. J. - Glycogen storage diseases of muscle. Problems in biochemical genetics in birth defects. Original Articles Series vol. II nş 2, 1971.

Publication Dates

Publication in this collection
30 Aug 2012
Date of issue
Dec 1977

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. BRADLEY, W. G.; HUDGSON, P.; GARDNER-MEDWIN, D. & WALTON, J. N. - A new myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet I: 495, 1969.

[2] 2. DE HARVEN, E. - Methods in electron microscope cytology. In Methods in cancer research. Academic Press, New York, 1967, vol. 1, pag. 3.

[3] 3. HOLMES, J. M.; HOUGHTON, C. R. & WOOLF, A. L. - A myopathy presenting in adult life with features suggestive of glycogen storage disease. J. Neurol. Neurosurg. Psychiat. 23:302, 1960.

[4] 4. KARPATI, G.; CARPENTER, S.; WOLFE, L. S. & SHERWIN, A. - A peculiar polysaccharide accumulation in muscle in a case of cardiosqueletal myopathy. Neurology (Minneapolis) 19:553, 1969.

[5] 5. LUFT, J. H. - Improvements in epoxy embedding methods. J. biophis. biochem. cytol.. 9:409. 1961.

[6] 6. PEARSE, A. G. E. - Histochemistry: Theoretical and Applied. J. A. Churchill Ltd., London, 1968, vol. 1, pags. 307 and 672.

[7] 7. REYNOLDS, E. S. - The use of lead citrate at high pH as an electron opaque stain in electron microscope. J. Cell Biol. 17:208, 1963.

[8] 8. ROWLAND, L. P.; DE MAURO, S. & BANK, W. J. - Glycogen storage diseases of muscle. Problems in biochemical genetics in birth defects. Original Articles Series vol. II nş 2, 1971.