Desproporção congênita de fibras: atrofia de fibras tipo I- relato de 11 casos

Levy, José Antonio; Alegro, Mary Souza de Carvalho; Lusvarghi, Edgard S.; Salum, Paulo N. B.; Tsanaclis, Ana Maria C.; Levy, Ângela

doi:10.1590/S0004-282X1987000200008

Resumos

Os autores relatam 11 casos de desproporção congênita de fibras, comprovados pelos exames clínicos e complementares, em que as retrações fibrotendinosas precoces foram freqüentes, o CPK mostrou-se elevado e, na biópsia muscular, a histoquímica revelou atrofia seletiva das fibras tipo I. Trata-se de distrofia congênita pouco freqüente, de progressão lenta e evolução benigna.

The authors report 11 cases of congenital disproportion of fibers, confirmed through clinical and complementary examinations. In these 11 cases early fibrotendinous retractions were frequent and CK proved to be high. At muscle biopsy histochemistry revealed a selective atrophy of type I fibers. This is a rarely frequent congenital dystrophy, of slow progression and benign evolution.

Desproporção congênita de fibras. Atrofia de fibras tipo I: relato de 11 casos

Congenital fibre disproportion. Type I fibres atrophy: report of 11 cases

José Antonio Levy^I; Mary Souza de Carvalho Alegro^II; Edgard S. Lusvarghi^II; Paulo N. B. Salum^II; Ana Maria C. Tsanaclis^II; Ângela Levy^III

^IProfessor Adjunto - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

^IIMédico Assistente - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

^IIIBiomédica - Trabalho do Centro de Investigação em Neurologia do Departamento de Neurologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

RESUMO

Os autores relatam 11 casos de desproporção congênita de fibras, comprovados pelos exames clínicos e complementares, em que as retrações fibrotendinosas precoces foram freqüentes, o CPK mostrou-se elevado e, na biópsia muscular, a histoquímica revelou atrofia seletiva das fibras tipo I. Trata-se de distrofia congênita pouco freqüente, de progressão lenta e evolução benigna.

SUMMARY

The authors report 11 cases of congenital disproportion of fibers, confirmed through clinical and complementary examinations. In these 11 cases early fibrotendinous retractions were frequent and CK proved to be high. At muscle biopsy histochemistry revealed a selective atrophy of type I fibers. This is a rarely frequent congenital dystrophy, of slow progression and benign evolution.

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Centro de Investigações em Neurologia, FMUSP - Caixa Postal 5199 - 01000 - São Paulo, SP - Brasil.

1. ARGOV, L. ; GARDNER-MEDWIN, D. ; JOHNSON, M.A. & MASTAGLIA, F.L. - Patterns of muscle fiber type disproportion in hypotonic infants. Arch. Neurol. (Chicago) 41:53, 1984.
2. BENDER, A.N. - Congenital myopathies. In P.G. Vinken & G.W. Bruyn (eds.): Handbook of Clinical Neurology. Vol. 41. North Holland, Amsterdam, 1979.
3. BETHDEM, J. ; WIJNGAARDEN, G.K. ; MEIJER, A.E. & HULSMANN, W.C. - Neuromuscular disease with type I fiber atrophy, central nuclei and myotube like structures. Neurology 19:705, 1969.
4. BROOKE, M.H. - Congenital fiber type disproportion. In B.A. Kakulas (ed.): Proc. 2nd. Int. Cong, on Muscle Diseases, Perth, Australia. Excerpta Medica, Amsterdam, 1973, 147.
5. BROOKE, M.H. & ENGEL, W.K. - The histographic analysis of human muscle biopsies with regard to fiber types: IV. Children's biopsies. Neurology 19:591, 1969.
6. BROOKE, M.H. & KAISER, K.K. - The use and abuse of muscle histochemistry. Ann. N.Y. Acad. Sci. 228:121, 1974.
7. BROOKE, M.H. & KAPLAN, H. - Muscle pathology in rheumatoid arthritis, polymyalgia rheumatica and polymyositis: a histochemical study. Arch. Path. 94:101, 1972.
8. CURLESS, R.G. & NELSON, M.B. - Congenital fiber type disproportion in identical twins. Ann. Neurol. 2:455, 1977.
9. DUBOWITZ, F. & BROOKE, M.H. - The congenital myopathies. In Muscle Biopsy: A Modern Approach. Saunders, London, 1973, pg. 253.
10. ENGEL, W.K. ; GOLD, G.N. & KARPATI, G. - Type I fiber hypotrophy and central nuclei, a rare congenital muscle abnormality with a possible experimental model. Arch. Neurol. (Chicago) 18:435, 1968.
11. FARDEAU, M.; HARPEY, J.P.; CAILLE, B. & LAFOURCADE, J. - Hypotonies néo-natales avec disproportion de fibre musculaire et petitesse relative des fibres de type I. Arch, franc. Pediat. 32:901, 1975.
12. FARDEAU, M.: HARPEY, J.P. & CAILLE, B. - Disproportion congénitale des différents types de fibre musculaire avec petitesse relative des fibres de type I. Rev. neurol. (Paris) 131:745, 1975.
13. KARPATI, G.: CARPENTER, S. & NELSON, R.F. - Type I muscle fiber atrophy and central nuclei, a rare familiar neuromuscular disease. J. neurol. Sci. 10:489, 1970.
14. KINOSHITA, M.: SATOYASHI, E. & MATSUO, N. - Myotubular myopathy and type I fiber atrophy in a family. J. neurol. Sci. 26:575, 1975.
15. LAAK, H.J.; JASPAR, H.H.; GABRÉÉLS, F. J.M.; BREUER, T.G.M.; SENGERS, R.C.A.; JOOSTEN, E.M.G.; STADHOUDERS, A.M. & GABRÉÉLS-FESTEN, A.A.W.M. - Congenital fibre type disproportion: a morphometric study (4 cases). Clin. Neurol. Neurosurg. 83:67, 1981.
16. LEE, Y.S. & YIP, W.C. - A fatal congenital myopathy with severe type I fibre atrophy nuclei and multicore. J. neurol. Sci. 50:277, 1981.
17. RADU, H. & IONESCU, V. - Nemaline (neuro)-myopathy: rod-like bodies and type I fiber atrophy in a case of congenital myotonia with denervation. J. neurol. Sci. 17:53, 1972.
18. SANDYK, R. - Congenital fibre type disproportion: a case report. S. Afr. med. J. 60:833, 1981.
19. WERNECK, L.C. - O valor da biópsia muscular em Neurologia. Análise de 290 exames a fresco e pela histoquímica. Rev. bras. Clin. Terap. 10:2, 1981.

Datas de Publicação

Publicação nesta coleção
22 Jun 2011
Data do Fascículo
Jun 1987

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[1] 1. ARGOV, L. ; GARDNER-MEDWIN, D. ; JOHNSON, M.A. & MASTAGLIA, F.L. - Patterns of muscle fiber type disproportion in hypotonic infants. Arch. Neurol. (Chicago) 41:53, 1984.

[2] 2. BENDER, A.N. - Congenital myopathies. In P.G. Vinken & G.W. Bruyn (eds.): Handbook of Clinical Neurology. Vol. 41. North Holland, Amsterdam, 1979.

[3] 3. BETHDEM, J. ; WIJNGAARDEN, G.K. ; MEIJER, A.E. & HULSMANN, W.C. - Neuromuscular disease with type I fiber atrophy, central nuclei and myotube like structures. Neurology 19:705, 1969.

[4] 4. BROOKE, M.H. - Congenital fiber type disproportion. In B.A. Kakulas (ed.): Proc. 2nd. Int. Cong, on Muscle Diseases, Perth, Australia. Excerpta Medica, Amsterdam, 1973, 147.

[5] 5. BROOKE, M.H. & ENGEL, W.K. - The histographic analysis of human muscle biopsies with regard to fiber types: IV. Children's biopsies. Neurology 19:591, 1969.

[6] 6. BROOKE, M.H. & KAISER, K.K. - The use and abuse of muscle histochemistry. Ann. N.Y. Acad. Sci. 228:121, 1974.

[7] 7. BROOKE, M.H. & KAPLAN, H. - Muscle pathology in rheumatoid arthritis, polymyalgia rheumatica and polymyositis: a histochemical study. Arch. Path. 94:101, 1972.

[8] 8. CURLESS, R.G. & NELSON, M.B. - Congenital fiber type disproportion in identical twins. Ann. Neurol. 2:455, 1977.

[9] 9. DUBOWITZ, F. & BROOKE, M.H. - The congenital myopathies. In Muscle Biopsy: A Modern Approach. Saunders, London, 1973, pg. 253.

[10] 10. ENGEL, W.K. ; GOLD, G.N. & KARPATI, G. - Type I fiber hypotrophy and central nuclei, a rare congenital muscle abnormality with a possible experimental model. Arch. Neurol. (Chicago) 18:435, 1968.

[11] 11. FARDEAU, M.; HARPEY, J.P.; CAILLE, B. & LAFOURCADE, J. - Hypotonies néo-natales avec disproportion de fibre musculaire et petitesse relative des fibres de type I. Arch, franc. Pediat. 32:901, 1975.

[12] 12. FARDEAU, M.: HARPEY, J.P. & CAILLE, B. - Disproportion congénitale des différents types de fibre musculaire avec petitesse relative des fibres de type I. Rev. neurol. (Paris) 131:745, 1975.

[13] 13. KARPATI, G.: CARPENTER, S. & NELSON, R.F. - Type I muscle fiber atrophy and central nuclei, a rare familiar neuromuscular disease. J. neurol. Sci. 10:489, 1970.

[14] 14. KINOSHITA, M.: SATOYASHI, E. & MATSUO, N. - Myotubular myopathy and type I fiber atrophy in a family. J. neurol. Sci. 26:575, 1975.

[15] 15. LAAK, H.J.; JASPAR, H.H.; GABRÉÉLS, F. J.M.; BREUER, T.G.M.; SENGERS, R.C.A.; JOOSTEN, E.M.G.; STADHOUDERS, A.M. & GABRÉÉLS-FESTEN, A.A.W.M. - Congenital fibre type disproportion: a morphometric study (4 cases). Clin. Neurol. Neurosurg. 83:67, 1981.

[16] 16. LEE, Y.S. & YIP, W.C. - A fatal congenital myopathy with severe type I fibre atrophy nuclei and multicore. J. neurol. Sci. 50:277, 1981.

[17] 17. RADU, H. & IONESCU, V. - Nemaline (neuro)-myopathy: rod-like bodies and type I fiber atrophy in a case of congenital myotonia with denervation. J. neurol. Sci. 17:53, 1972.

[18] 18. SANDYK, R. - Congenital fibre type disproportion: a case report. S. Afr. med. J. 60:833, 1981.

[19] 19. WERNECK, L.C. - O valor da biópsia muscular em Neurologia. Análise de 290 exames a fresco e pela histoquímica. Rev. bras. Clin. Terap. 10:2, 1981.

Brasil

Brasil

Desproporção congênita de fibras: atrofia de fibras tipo I- relato de 11 casos

Congenital fibre disproportion: type I fibres atrophy- report of 11 cases

Resumos

Datas de Publicação