Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético

Kiyomoto, B. H.; Gabbai, A. A.; Oliveira, A. S. B.; Schmidt, B.; Lima, J. G. C.

doi:10.1590/S0004-282X1991000300007

Resumos

São relatados 12 pacientes com o diagnóstico de MM definidos histoquimicamente. Nove pacientes eram do sexo masculino e três do sexo feminino. A idade de início dos sintomas variou desde o período neonatal até os 35 anos de idade (mediana 14 anos). Foram identificadas como características principais a fraqueza muscular, oftalmoplegia e ptose palpebral em 10 pacientes. Um paciente apresentou quadro de intolerância aos exercícios e outro além da fraqueza muscular, alteração do comportamento. São discutidos aspectos clínicos e o diagnóstico diferencial de nossos pacientes.

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differencial diagnosis of these patients are discussed.

CONTENTS CONTEÚDO

B. H. KiyomotoI; A. A. GabbaiII; A. S. B. OliveiraI; B. SchmidtIII; J. G. C. LimaIV

IPós-graduando - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IIProfessor Adjunto - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IIIProfessor de Pós-Graduação - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

IVProfessor Titular - Trabalho realizado na Disciplina de Neurologia da Escola Paulista de Medicina

RESUMO

São relatados 12 pacientes com o diagnóstico de MM definidos histoquimicamente. Nove pacientes eram do sexo masculino e três do sexo feminino. A idade de início dos sintomas variou desde o período neonatal até os 35 anos de idade (mediana 14 anos). Foram identificadas como características principais a fraqueza muscular, oftalmoplegia e ptose palpebral em 10 pacientes. Um paciente apresentou quadro de intolerância aos exercícios e outro além da fraqueza muscular, alteração do comportamento. São discutidos aspectos clínicos e o diagnóstico diferencial de nossos pacientes.

SUMMARY

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differencial diagnosis of these patients are discussed.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Dra. Beatriz H. Kiyomoto - Disciplina de Neurologia, Escola Paulista de Medicina - Rua Botucatu 720 - 04023 São Paulo SP - Brasil.

1. Cruz MW, André C, Hahn MD, Mattos JP, Maranhão P Filho, Silva ES, Novis S. Síndrome de Kearns-Sayre: relato de caso com instalação rápida e documentação anatomopatológica. Rev Bras Neurol 1989, 25:55-60.
2. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo D. Mitochondrial myopathies. Ann Neurol 1985, 17:521-538.
3. Donzeau JP, Constans R, Conte D, Rochiccioli P, Bernadet P, Bounhorne JP, Calazel P. Ophtalmoplégie externe progressive et troubles de la conduction ventriculaire: à propos de 3 nouvelles observations. Arch Mal Coeur 1977, 8:875-882.
4. Dubowitz V, Brooke MH. Muscle Biopsy: a Modern Approach. London: WB Saunders. 1973.
5. Egger J, Kendall BE. Computed tomography in mitochondrial cytopathy. Neuroradiology 1981, 22:73-78.
6. Egger J, Lake. BD, Wilson J. Mitochondrial cytopathy : a multisystem disorder with ragged-red fiber on muscle biopsy. Arch Dis Child 1981, 56:741-752.
7. Ernster L, Ikkos D, Luft R. Enzymic activities of skeletal muscle mitochondria: a tool in clinical metabolic research. Nature 1959, 184:1851-1854.
8. Evoli A, Tonali P, Bartoccioni E, LoMonaco M. Ocular myasthenia: diagnostic and therapeutic problems. Acta Neurol Scand 1988, 77:31-35.
9. Kendall HO, Kendall FP, Wadsworth GE. Les Muscles: Bilan et Etude Fonctionnelle. Ed. 2. Paris: Maloine, 1971.
10. Levy JA, Tsanaclis AM, Saraiva PAP, Mion CC, Salum PNB. Mitochondrial myopathy with respiratory muscle involvement: a case report. Arq Neuro-Psiquiat (São Paulo) 1983, 41:86-90.
11. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 1962, 41:1776-1804.
12. Morgan-Hughes JA. Mitochondrial myopathies. In: Mastaglia FL, Walton J (eds) : Skeletal Muscle Pathology. Edinburgh: Churchill-Livingstone, 1982.
13. Ogasahara S, Nishizawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986, 36:45-53.
14. Peterson PL, Martens ME, Chuan PL. Mitochondrial encephalomyopathies. Neurol Clin 1988, 6:529-544.
15. Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986, 109:915-938.
16. Rowland LP. ophthalmoplegia plus» or Kearns-Sayre syndrome? Arch Neurol 1980, 37:256.
17. Shapira Y, Harel S, Russel A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977, 13:161-164.
18. Tome F, Fardeau M. Ocular myopathies. In: Engel AG, Banker BQ (eds) : Myology. New York: McGraw Hill, 1986, Vol 2, p 1327-1347.
19. Tosta ED. Chronic progressive external ophthalmoplegia: I.A quantitative histochemical study of skeletal muscles. Arq Neuro-Psiquiat (São Paulo) 1988, 46:133-142.
20. Werneck LC, Abdalla H, Lohr A. Melas (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) : relato de um caso. Arq Neuro-Psiquiat (São Paulo) 1987, 45:288-294.

Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético

Mitochondrial myopathy: report of 12 cases with histochemical study of skeletal muscle.

Datas de Publicação

Publicação nesta coleção
22 Fev 2011
Data do Fascículo
Set 1991

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

[1] 1. Cruz MW, André C, Hahn MD, Mattos JP, Maranhão P Filho, Silva ES, Novis S. Síndrome de Kearns-Sayre: relato de caso com instalação rápida e documentação anatomopatológica. Rev Bras Neurol 1989, 25:55-60.

[2] 2. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo D. Mitochondrial myopathies. Ann Neurol 1985, 17:521-538.

[3] 3. Donzeau JP, Constans R, Conte D, Rochiccioli P, Bernadet P, Bounhorne JP, Calazel P. Ophtalmoplégie externe progressive et troubles de la conduction ventriculaire: à propos de 3 nouvelles observations. Arch Mal Coeur 1977, 8:875-882.

[4] 4. Dubowitz V, Brooke MH. Muscle Biopsy: a Modern Approach. London: WB Saunders. 1973.

[5] 5. Egger J, Kendall BE. Computed tomography in mitochondrial cytopathy. Neuroradiology 1981, 22:73-78.

[6] 6. Egger J, Lake. BD, Wilson J. Mitochondrial cytopathy : a multisystem disorder with ragged-red fiber on muscle biopsy. Arch Dis Child 1981, 56:741-752.

[7] 7. Ernster L, Ikkos D, Luft R. Enzymic activities of skeletal muscle mitochondria: a tool in clinical metabolic research. Nature 1959, 184:1851-1854.

[8] 8. Evoli A, Tonali P, Bartoccioni E, LoMonaco M. Ocular myasthenia: diagnostic and therapeutic problems. Acta Neurol Scand 1988, 77:31-35.

[9] 9. Kendall HO, Kendall FP, Wadsworth GE. Les Muscles: Bilan et Etude Fonctionnelle. Ed. 2. Paris: Maloine, 1971.

[10] 10. Levy JA, Tsanaclis AM, Saraiva PAP, Mion CC, Salum PNB. Mitochondrial myopathy with respiratory muscle involvement: a case report. Arq Neuro-Psiquiat (São Paulo) 1983, 41:86-90.

[11] 11. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 1962, 41:1776-1804.

[12] 12. Morgan-Hughes JA. Mitochondrial myopathies. In: Mastaglia FL, Walton J (eds) : Skeletal Muscle Pathology. Edinburgh: Churchill-Livingstone, 1982.

[13] 13. Ogasahara S, Nishizawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986, 36:45-53.

[14] 14. Peterson PL, Martens ME, Chuan PL. Mitochondrial encephalomyopathies. Neurol Clin 1988, 6:529-544.

[15] 15. Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986, 109:915-938.

[16] 16. Rowland LP. ophthalmoplegia plus» or Kearns-Sayre syndrome? Arch Neurol 1980, 37:256.

[17] 17. Shapira Y, Harel S, Russel A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977, 13:161-164.

[18] 18. Tome F, Fardeau M. Ocular myopathies. In: Engel AG, Banker BQ (eds) : Myology. New York: McGraw Hill, 1986, Vol 2, p 1327-1347.

[19] 19. Tosta ED. Chronic progressive external ophthalmoplegia: I.A quantitative histochemical study of skeletal muscles. Arq Neuro-Psiquiat (São Paulo) 1988, 46:133-142.

[20] 20. Werneck LC, Abdalla H, Lohr A. Melas (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) : relato de um caso. Arq Neuro-Psiquiat (São Paulo) 1987, 45:288-294.