Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes

Oliveira, Acary S. B.; Schmidt, Beny; Ferreira Neto, Armando; Kiyomoto, Beatriz H.; Gabbai, Alberto A.; Lima, J. G. Camargo

doi:10.1590/S0004-282X1991000200012

Resumos

Foram individualizados 17 pacientes com distrofia muscular congênita (DMC) por critérios clínico-laboratoriais e biópsia muscular com estudo histoquímico do músculo deltóide superficial. São descritas e ilustradas, com detalhes, as alterações histológicas observadas nas respectivas biópsias e que compõem seu substrato anátomo-patológico: proliferação conjuntiva, alteração na arquitetura interna, necrose, involução gordurosa, macrofagia, regeneração, segmentação, centralizações nucleares e predominância de fibras tipo I. Destacamos a intensa proliferação conjuntiva endomisial ,que tende a isolar cada fibra muscular separadamente, e as importantes alterações na arquitetura, interna, com formação de fibras bizarras, que constituem dois importantes sinais que devem ser ressaltados tendo em vista um diagnóstico histológico diferencial com a distrofia muscular de Duchenne e Becker (DMD/ B) e com a distrofia forma cintura-membros. A importância de se individualizar a DMC das outras formas de distrofias musculares reside principalmente em seu prognóstico que, na maioria das vezes, é mais favorável que na DMD.

A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All samples showed connective tissue proliferation, changes in the internal architecture, necrosis, increase of adipose tissue, ma-crophagia, fiber regeneration and segmentation, central nuclei, and type I fiber predominance. The histological hallmarks of this entity are the marked endomysial connective tissue proliferation that frames one fiber from the other, and the important changes in the fiber's internal architecture. Those two abnormalities are extremely helpful to differentiate, on histological grounds, CMD from limb girdle muscular dystrophy and Duchenne/Becker muscular dystrophy. CMD presents a particular natural course and should be individualized apart from other muscular dystrophies.

CONTENTS CONTEÚDO

Acary S. B. Oliveira^I; Beny Schmidt^II; Armando Ferreira Neto^III; Beatriz H. Kiyomoto^I; Alberto A. Gabbai^IV; J. G. Camargo Lima^V

^IPós-Graduando, Disciplina de Neurologia (DN), Escola Paulista de Medicina (EPM)

^IIProfessor da Pós-Graduação, EPM

^IIIEstagiário, DN EPM

^IVProfessor Adjunto, DN EPM

^VProfessor Titular, DN EPM.

RESUMO

Foram individualizados 17 pacientes com distrofia muscular congênita (DMC) por critérios clínico-laboratoriais e biópsia muscular com estudo histoquímico do músculo deltóide superficial. São descritas e ilustradas, com detalhes, as alterações histológicas observadas nas respectivas biópsias e que compõem seu substrato anátomo-patológico: proliferação conjuntiva, alteração na arquitetura interna, necrose, involução gordurosa, macrofagia, regeneração, segmentação, centralizações nucleares e predominância de fibras tipo I. Destacamos a intensa proliferação conjuntiva endomisial ,que tende a isolar cada fibra muscular separadamente, e as importantes alterações na arquitetura, interna, com formação de fibras bizarras, que constituem dois importantes sinais que devem ser ressaltados tendo em vista um diagnóstico histológico diferencial com a distrofia muscular de Duchenne e Becker (DMD/ B) e com a distrofia forma cintura-membros. A importância de se individualizar a DMC das outras formas de distrofias musculares reside principalmente em seu prognóstico que, na maioria das vezes, é mais favorável que na DMD.

SUMMARY

A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All samples showed connective tissue proliferation, changes in the internal architecture, necrosis, increase of adipose tissue, ma-crophagia, fiber regeneration and segmentation, central nuclei, and type I fiber predominance. The histological hallmarks of this entity are the marked endomysial connective tissue proliferation that frames one fiber from the other, and the important changes in the fiber's internal architecture. Those two abnormalities are extremely helpful to differentiate, on histological grounds, CMD from limb girdle muscular dystrophy and Duchenne/Becker muscular dystrophy. CMD presents a particular natural course and should be individualized apart from other muscular dystrophies.

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Dr. Beny Schmidt - Rua Botucatu 447 - 04023 São Paulo SP - Brasil

1. Bethlem J, Wijngaarden GK van. Benign myopathy with autossomal dominant inheritance: a report on three pedigree. Brain 1976, 99:91-100.
2. Deffémenis-Rospide HA, Gaundin ES, Vincent O, Scarabino R. Ubicación nosológica y clasificación de la hipotonia congénita de origen miopático. Arch Ped Uruguay 1966, 37:503-508.
3. Deffémenis-Rospide HA, Vincent O, Gaundin ES, Scarabino R, Médici M. Distrofia muscular congénita pura: ubicación nosológica, frecuencia, aspectos clínicos y evolutivos y clasificación. Acta Neurol Latino Amer 1972, 18:20-36.
4. Donner M, Rapola J, Somer H. Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropaediatrie 1975, 6:239-258.
5. Dubowitz V, Brooke M. Muscle Biopsy: A Modern Approach. London: Saunders, 1973.
6. Echenne B, Astruc J, Brunei D. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983, 14:95-101.
7. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ. Tokyo 1970, 4:5-8.
8. Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull 1980, 36:109-115.
9. Goebel HH, Lenard HG, Langenbeck U, Mehl B. A form of congenital muscular dystrophy. Brain Dev 1980, 2:387-400.
10. Greenfeld T, Cornman T, Shy GM. The prognostic value of the muscle biopsy in the «floppy infant». Brain 1958, 81:461-484.
11. Kihira S, Ninaka I. Congenital muscular dystrophy: a histochemical study with morphometry analysis on biopsied muscles. J Neurol Sci 1985, 70: 139-149.
12. Lenard HG, Goebel HH. Congenital muscular dystrophies and unstructured congenital myopathies. Brain Dev 1980, 2:119-125.
13. Levy JA, Alegro MSC, Salum PNB, Brotto MW, Levy A. Distrofia muscular progressiva congênita tipo Fukuyama: descrição de um caso. Arq Neuro-Psiquiat (S Paulo) 1987, 45:188-192.
14. Menamin JB Mc, Becker LE. Murphy EG. Congenital muscular dystrophy: a clinico-pathologic report of 24 cases. J Pediatr 1982, 100:692-697.
15. Miranda AF, Francke U, Bonilla E, Schmidt B, Salviati G, Rubi M. Dystrophin immu-nochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Am J Med Genet 1989, 32:268-273.
16. Misugi N. Light and electron microscopic studies of congenital muscular dystrophy. Brain Dev 1980, 2:191-199.
17. Nonaka I, Miyoshino S, Miike T, Mishima K. Clinical and pathological study of Ullrich type of congenital muscular dystrophy. No To Hattatsu (Tokyo) 1974, 6:45-56.
18. Oliveira ASB. Distrofia muscular congênita: estudo histoquímico do músculo esquelético de 17 pacientes. Tese. Disciplina de Neurologia, Escola Paulista de Medicina. São Paulo, 1987.
19. Otto HF, Lucking T. Congenital Muskeldystrophie: licht und elektronenmikroskopische Befunde. Virchows Arch (Path Anat) 1971, 352:324-329.
20. Segawa M. Congenital muscular dystrophy. Adv Neurol Sci (Tokyo) 1976, 20:68-80.
21. Serratrice G, Cros D, Pellissier JF, Gastaut JL, Pouget J. Distrophie musculaire con-génitale. Rev Neurol (Paris) 1980, 136:445-472.
22. Vassella F, Mummenthaler M, Rossi E, Moser H, Wiesmann U. Die kongenitale muskeldystrophie, Dtsch Z Nervenh 1967, 190:349-374.
23. Zellweger H, Afifi A, Cormick WG Mc, Mergner W. Severe congenital dystrophy. Am J Dis Child 1967, 114:591-602.
24. Zellweger H, Afifi A, Cormick WF Mc, Mergner W. Benign congenital muscular dystrophy: a special form of congenital hypotonia. Clin Pediatr 1967, 6:655-663.

Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes

Congenital muscular dystrophy: skeletal muscle histochemical study of 17 patients.

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Jun 1991

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

[1] 1. Bethlem J, Wijngaarden GK van. Benign myopathy with autossomal dominant inheritance: a report on three pedigree. Brain 1976, 99:91-100.

[2] 2. Deffémenis-Rospide HA, Gaundin ES, Vincent O, Scarabino R. Ubicación nosológica y clasificación de la hipotonia congénita de origen miopático. Arch Ped Uruguay 1966, 37:503-508.

[3] 3. Deffémenis-Rospide HA, Vincent O, Gaundin ES, Scarabino R, Médici M. Distrofia muscular congénita pura: ubicación nosológica, frecuencia, aspectos clínicos y evolutivos y clasificación. Acta Neurol Latino Amer 1972, 18:20-36.

[4] 4. Donner M, Rapola J, Somer H. Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropaediatrie 1975, 6:239-258.

[5] 5. Dubowitz V, Brooke M. Muscle Biopsy: A Modern Approach. London: Saunders, 1973.

[6] 6. Echenne B, Astruc J, Brunei D. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983, 14:95-101.

[7] 7. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital progressive muscular dystrophy. Paediatr Univ. Tokyo 1970, 4:5-8.

[8] 8. Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull 1980, 36:109-115.

[9] 9. Goebel HH, Lenard HG, Langenbeck U, Mehl B. A form of congenital muscular dystrophy. Brain Dev 1980, 2:387-400.

[10] 10. Greenfeld T, Cornman T, Shy GM. The prognostic value of the muscle biopsy in the «floppy infant». Brain 1958, 81:461-484.

[11] 11. Kihira S, Ninaka I. Congenital muscular dystrophy: a histochemical study with morphometry analysis on biopsied muscles. J Neurol Sci 1985, 70: 139-149.

[12] 12. Lenard HG, Goebel HH. Congenital muscular dystrophies and unstructured congenital myopathies. Brain Dev 1980, 2:119-125.

[13] 13. Levy JA, Alegro MSC, Salum PNB, Brotto MW, Levy A. Distrofia muscular progressiva congênita tipo Fukuyama: descrição de um caso. Arq Neuro-Psiquiat (S Paulo) 1987, 45:188-192.

[14] 14. Menamin JB Mc, Becker LE. Murphy EG. Congenital muscular dystrophy: a clinico-pathologic report of 24 cases. J Pediatr 1982, 100:692-697.

[15] 15. Miranda AF, Francke U, Bonilla E, Schmidt B, Salviati G, Rubi M. Dystrophin immu-nochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Am J Med Genet 1989, 32:268-273.

[16] 16. Misugi N. Light and electron microscopic studies of congenital muscular dystrophy. Brain Dev 1980, 2:191-199.

[17] 17. Nonaka I, Miyoshino S, Miike T, Mishima K. Clinical and pathological study of Ullrich type of congenital muscular dystrophy. No To Hattatsu (Tokyo) 1974, 6:45-56.

[18] 18. Oliveira ASB. Distrofia muscular congênita: estudo histoquímico do músculo esquelético de 17 pacientes. Tese. Disciplina de Neurologia, Escola Paulista de Medicina. São Paulo, 1987.

[19] 19. Otto HF, Lucking T. Congenital Muskeldystrophie: licht und elektronenmikroskopische Befunde. Virchows Arch (Path Anat) 1971, 352:324-329.

[20] 20. Segawa M. Congenital muscular dystrophy. Adv Neurol Sci (Tokyo) 1976, 20:68-80.

[21] 21. Serratrice G, Cros D, Pellissier JF, Gastaut JL, Pouget J. Distrophie musculaire con-génitale. Rev Neurol (Paris) 1980, 136:445-472.

[22] 22. Vassella F, Mummenthaler M, Rossi E, Moser H, Wiesmann U. Die kongenitale muskeldystrophie, Dtsch Z Nervenh 1967, 190:349-374.

[23] 23. Zellweger H, Afifi A, Cormick WG Mc, Mergner W. Severe congenital dystrophy. Am J Dis Child 1967, 114:591-602.

[24] 24. Zellweger H, Afifi A, Cormick WF Mc, Mergner W. Benign congenital muscular dystrophy: a special form of congenital hypotonia. Clin Pediatr 1967, 6:655-663.