A importância da biópsia muscular no diagnóstico de neuromiopatias

P, Luiz Fernando Bleggi-Torres; Noronha, Lúcia de

doi:10.1590/S0004-282X1994000300014

Resumos

As doenças neuromusculares têm quadro clínico variado e manifestam-se principalmente em pacientes jovens, determinando incapacidade funcional progressiva. Avaliação clínica, eletromiografia, bioquímica sangüínea e biópsia muscular são indispensáveis para o correto diagnóstico etiológico. Apresentamos casuística de 124 casos diagnosticados por biópsia muscular com histoquímica enzimática, microscopia eletrônica e avaliação morfométrica da variação no diâmetro das fibras afetadas, comentando os principais elementos diagnósticos anátomo-patológicos. Necrose muscular, grande variabilidade no diâmetro de fibras e infiltração adiposa muscular predominam nos quadros miopáticos distróficos, que representaram 26% de nossos casos. Redução volumétrica com angulação das fibras sugeriu origem neurogênica, sendo a alteração importante detectada em 27% de nossos diagnósticos. Miopatia mitocondrial caracteriza-se por acúmulos periféricos de grande quantidade de mitocôndrias com ultraestrutura alterada. Cuidados especiais na escolha e coleta da amostra muscular podem minimizar achados inespecíficos ou alterações tipo estádio terminal que impossibilitam a caracterização adequada da doença.

miopatia; doenças neuromusculares; neuro-miopatias; histoquimica; microscopia eletrônica

Most of the neuromuscular diseases have similar clinical presentation affecting mainly young patients. Clinical observations, serum enzymes, eletromyographic studies and muscle biopsy are required for correct diagnosis. The authors show the results of morphological observations of a series of 124 muscle biopsies studied between 1988 and 1992 using conventional paraffin embedded material, frozen sections of muscle tissue stained by several histochemical techniques, electron microscopic observations and, in some cases, morphometric analysis of the smaller diameter of at least 100 random muscle fibres. Neurogenic atrophy was present in 27% of the cases (n=33), dystrophic muscle was diagnosed in 26%, mitochondrial myopathy in 7% while inflammatory and metabolic myopathies were less frequent. In the group of muscle dystrophy most cases were of Duchenne type showing great variation in fibre size ranging from 10 to 110 microns (mean=30 to 70 microns). There was also muscle necrosis and fatty changes. Neurogenic biopsies showed fibre atrophy with clustering of nuclei and group atrophy. Electron microscopic observations in cases of Werdnig-Hoffmann showed tiny fibres with less than 5 microns in great dimension and also with redundant basal laminae. Cases of mitochondrial myopathy showed the classical ragged red fibres and many different mitochondrial abnormalities under the electron microscope. Many cases (33%) showed only minor structural abnormalities or end-stage alterations with marked fatty infiltration and fibrosis so that a definitive diagnosis failed to be achieved. The correct selection and handling of muscle biopsies is important for adequate diagnosis in neuromuscular pathology.

myopathy; neuromuscular diseases; muscle histochemistry; electron microscopy

A importância da biópsia muscular no diagnóstico de neuromiopatias

The role of muscle biopsy in the diagnosis of neuromuscular diseases

Luiz Fernando Bleggi-Torres P^I; Lúcia de Noronha^II

^IUnidade de Patologia Neuro-Muscular do Hospital Nossa Senhora das Graças e Setor de Neuropatologia e Microscopia Eletrônica do Serviço de Anatomia Patológica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR), Curitiba: PhD Neuropatologista e Professor Adjunto do Departamento de Patologia Médica da UFPR

^IIUnidade de Patologia Neuro-Muscular do Hospital Nossa Senhora das Graças e Setor de Neuropatologia e Microscopia Eletrônica do Serviço de Anatomia Patológica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR), Curitiba: Estagiária e Doutoranda de Medicina

RESUMO

As doenças neuromusculares têm quadro clínico variado e manifestam-se principalmente em pacientes jovens, determinando incapacidade funcional progressiva. Avaliação clínica, eletromiografia, bioquímica sangüínea e biópsia muscular são indispensáveis para o correto diagnóstico etiológico. Apresentamos casuística de 124 casos diagnosticados por biópsia muscular com histoquímica enzimática, microscopia eletrônica e avaliação morfométrica da variação no diâmetro das fibras afetadas, comentando os principais elementos diagnósticos anátomo-patológicos. Necrose muscular, grande variabilidade no diâmetro de fibras e infiltração adiposa muscular predominam nos quadros miopáticos distróficos, que representaram 26% de nossos casos. Redução volumétrica com angulação das fibras sugeriu origem neurogênica, sendo a alteração importante detectada em 27% de nossos diagnósticos. Miopatia mitocondrial caracteriza-se por acúmulos periféricos de grande quantidade de mitocôndrias com ultraestrutura alterada. Cuidados especiais na escolha e coleta da amostra muscular podem minimizar achados inespecíficos ou alterações tipo estádio terminal que impossibilitam a caracterização adequada da doença.

Palavras-chave: miopatia, doenças neuromusculares, neuro-miopatias, histoquimica, microscopia eletrônica.

SUMMARY

Most of the neuromuscular diseases have similar clinical presentation affecting mainly young patients. Clinical observations, serum enzymes, eletromyographic studies and muscle biopsy are required for correct diagnosis. The authors show the results of morphological observations of a series of 124 muscle biopsies studied between 1988 and 1992 using conventional paraffin embedded material, frozen sections of muscle tissue stained by several histochemical techniques, electron microscopic observations and, in some cases, morphometric analysis of the smaller diameter of at least 100 random muscle fibres. Neurogenic atrophy was present in 27% of the cases (n=33), dystrophic muscle was diagnosed in 26%, mitochondrial myopathy in 7% while inflammatory and metabolic myopathies were less frequent. In the group of muscle dystrophy most cases were of Duchenne type showing great variation in fibre size ranging from 10 to 110 microns (mean=30 to 70 microns). There was also muscle necrosis and fatty changes. Neurogenic biopsies showed fibre atrophy with clustering of nuclei and group atrophy. Electron microscopic observations in cases of Werdnig-Hoffmann showed tiny fibres with less than 5 microns in great dimension and also with redundant basal laminae. Cases of mitochondrial myopathy showed the classical ragged red fibres and many different mitochondrial abnormalities under the electron microscope. Many cases (33%) showed only minor structural abnormalities or end-stage alterations with marked fatty infiltration and fibrosis so that a definitive diagnosis failed to be achieved. The correct selection and handling of muscle biopsies is important for adequate diagnosis in neuromuscular pathology.

Key words: myopathy, neuromuscular diseases, muscle histochemistry, electron microscopy.

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Full text available only in PDF format.

Agradecimentos - Os autores agradecem as Biólogas Fádua de Queiroz e Danielle Fuhrman pelas preparações histoquímicas e de microscopia eletrônica, ao Centro de Microscopia Eletrônica da UFPR pela utilização do microscópio Philips EM-300, e a todos os colegas médicos que encaminharam material para análise na UPNM. Projeto registrado no BANPESQ/UFPR - 93003189 e com apoio financeiro do CNPq - número 404277/90-0.

Aceite: 12-fevereiro-1994.

Dr. Luiz Fernando Bleggi Torres - Unidade de Patologia Neuro-Muscular, Centro de Patologia de Curitiba Ltda., Hospital Nossa Senhora das Graças - Rua Alcides Munhoz 433 - 80510-040 Curitiba PR - Brasil. FAX: (041) 264.5872.

1. Arruda WO, Torres LFB, Lombe A, Di Mauro S, Cardoso BS, Teive HAG, De Paolo D, Seixas RR. Mitochondrial myopathy and myocronic epilepsy. Arq Neuropsiquiatr 1990, 48: 32-43.
2. Bancroft JD, Stevens A. Theory and practice of histological techniques. London: Churchill Livingstone, 1982.
3. DeGirolami U, Smith TW. Pathology of skeletal muscle diseases. Am J Pathol 1982, 107: 235-276.
4. DiMauro S. Mitochondrial encephalomyopathies. Brain Pathol 1992, 2: 111-112.
5. Dubowitz V. Muscle Biopsy: a practical approach. London: Bailliere Tindall, 1985.
6. Harriman DGF. Greenfield's neuropathology. London: Edward Arnold, 1992, p 1411-1500.
7. Heffner RR. Muscle pathology. London: Churchill Livingstone, 1984.
8. Heffner RR. Histology for pathologists. New York: Raven Press, 1991, p 81.
9. Ibraghimov-Beskrovnaya O et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992, 355: 696-702.
10. Johnson MA. Histochemistry in pathology. London: Churchill Livingstone, 1990, p 129.
11. Kaido M et al. Muscle histology in Becker muscular distrophy. Muscle & Nerve 1991, 14: 1067-1073.
12. Lee YS. The role of muscle biopsy in the diagnosis of neuromuscular disorders. Ann Acad Med Singapore 1989, 8: 410-415.
13. Mastaglia FL, Walton J. Skeletal muscle pathology. London: Churchill Livingstone, 1982.
14. Mubarak SJ et al. Percutaneous muscle biopsy in the diagnosis of neuromuscular disease. J Ped Orthop 1992, 12: 191-196.
15. Schidlich HJ. Diagnostic value of muscle biopsy in neuromuscular diseases. Z Hauthr 1990, 65: 185-186.
16. Swash M. The muscle biopsy in clinical practice. Neurologija 1989, 38: 311-319.
17. Torres LFB, Duchen LW. The mutant mdx: inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates. Brain 1987, 110: 269-299.
18. Torres LFB. Inherited neuromuscular diseases in the mouse: a review of the literature. Arq Neuropsiquiatr 1988, 46: 298-307.
19. Werneck LC. O valor da biópsia muscular em neurologia: análise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 1981, 10: 224.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Set 1994

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

[1] 1. Arruda WO, Torres LFB, Lombe A, Di Mauro S, Cardoso BS, Teive HAG, De Paolo D, Seixas RR. Mitochondrial myopathy and myocronic epilepsy. Arq Neuropsiquiatr 1990, 48: 32-43.

[2] 2. Bancroft JD, Stevens A. Theory and practice of histological techniques. London: Churchill Livingstone, 1982.

[3] 3. DeGirolami U, Smith TW. Pathology of skeletal muscle diseases. Am J Pathol 1982, 107: 235-276.

[4] 4. DiMauro S. Mitochondrial encephalomyopathies. Brain Pathol 1992, 2: 111-112.

[5] 5. Dubowitz V. Muscle Biopsy: a practical approach. London: Bailliere Tindall, 1985.

[6] 6. Harriman DGF. Greenfield's neuropathology. London: Edward Arnold, 1992, p 1411-1500.

[7] 7. Heffner RR. Muscle pathology. London: Churchill Livingstone, 1984.

[8] 8. Heffner RR. Histology for pathologists. New York: Raven Press, 1991, p 81.

[9] 9. Ibraghimov-Beskrovnaya O et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992, 355: 696-702.

[10] 10. Johnson MA. Histochemistry in pathology. London: Churchill Livingstone, 1990, p 129.

[11] 11. Kaido M et al. Muscle histology in Becker muscular distrophy. Muscle & Nerve 1991, 14: 1067-1073.

[12] 12. Lee YS. The role of muscle biopsy in the diagnosis of neuromuscular disorders. Ann Acad Med Singapore 1989, 8: 410-415.

[13] 13. Mastaglia FL, Walton J. Skeletal muscle pathology. London: Churchill Livingstone, 1982.

[14] 14. Mubarak SJ et al. Percutaneous muscle biopsy in the diagnosis of neuromuscular disease. J Ped Orthop 1992, 12: 191-196.

[15] 15. Schidlich HJ. Diagnostic value of muscle biopsy in neuromuscular diseases. Z Hauthr 1990, 65: 185-186.

[16] 16. Swash M. The muscle biopsy in clinical practice. Neurologija 1989, 38: 311-319.

[17] 17. Torres LFB, Duchen LW. The mutant mdx: inherited myopathy in the mouse. Morphological studies of nerves, muscles and end-plates. Brain 1987, 110: 269-299.

[18] 18. Torres LFB. Inherited neuromuscular diseases in the mouse: a review of the literature. Arq Neuropsiquiatr 1988, 46: 298-307.

[19] 19. Werneck LC. O valor da biópsia muscular em neurologia: análise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 1981, 10: 224.