Miopatia miotubular: estudo clinico, eletrofisiologico e histologico de um caso

Alonso, José L.; Cavaliere, Maria J.; Gagioti, Sonia M.; Atalia, Açucena A.; Nascimento, Ivana; Dias, José C. Souza

doi:10.1590/S0004-282X1981000400011

Resumos

São apresentados os resultados dos exames clínicos, eletrofisiológicos e do estudo do ponto motor, da imunofluorescência, da histoquímica e da ultrami-croscopia da biópsia muscular de um caso de miopatia miotubular. São discutidos estes resultados em relação aos achados de 56 casos desta moléstia consignados na literatura até 1978, sendo dada enfase à etiopatogenia.

A case of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, posi-tivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examinated it was noted a spontaneous electromyographic activity with +- of 2,64 ± 1,33 ms, 36,87 ± 30,87 µV and 88,13 ± 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron, immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.

Miopatia miotubular: estudo clinico, eletrofisiologico e histologico de um caso

Myotubular myopathy: clinical electrophysiological and histological study of a case

José L. Alonso^I ; Maria J. Cavaliere^II ; Sonia M. Gagioti^II ; Açucena A. Atalia^II ; Ivana Nascimento^III ; José C. Souza Dias^IV

^IMédico responsável pelo Setor de Eletromiografia. Clinica Neurológica e no Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual, São Paulo

^IIBióloga do Setor de Patologia Experimental. Clinica Neurológica e no Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual, São Paulo

^IIIMédica-residente do Serviço de Anatomia Patológica. Clinica Neurológica e no Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual, São Paulo

^IVMédico responsável pelo Setor de Microscopia Eletrônica. Trabalho apresentado no XIII Congresso Brasileiro de Patologia (Brasília, fevereiro, 1979). Clinica Neurológica e no Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual, São Paulo

RESUMO

São apresentados os resultados dos exames clínicos, eletrofisiológicos e do estudo do ponto motor, da imunofluorescência, da histoquímica e da ultrami-croscopia da biópsia muscular de um caso de miopatia miotubular. São discutidos estes resultados em relação aos achados de 56 casos desta moléstia consignados na literatura até 1978, sendo dada enfase à etiopatogenia.

SUMMARY

A case of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, posi-tivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examinated it was noted a spontaneous electromyographic activity with +- of 2,64 ± 1,33 ms, 36,87 ± 30,87 µV and 88,13 ± 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron, immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.

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Trabalho realizado na Clinica Neurológica e no Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual, São Paulo.

Agradecimento - Agradecemos à Sra. Ely Kogler Teg pelas informações a respeito da evolução psicomotora da paciente.

Setor de Eletromiografia - Hospital do Servidor Público - Caixa Postal 8570 - 01000 São Paulo, SP - Brasil.

1. ALONSO, J. L. - Eletromiografia. Revista Brasileira de Fisiatria (Belo Horizonte) 1:153, 1972.
2. ALSOP, D. W. - Rapid single-solution polychrome staining of semithin apoxy sections using polyethylene Glycol 200 (PEG 200) as stain solvent. Stain Tecnol. 49:266, 1974.
3. ASKANAS, V.; SHAFIQ, S. A. & MILHORAT, A. T. - Histochemistry of culture aneural chick muscle: morphologic maturation without differentiation of fibers types. Exp. Neurol. 37:218, 1972.
4. BADURSKA, B.; FIDZIANSKA, A.; KAMIENIEGKA, Z.; PROT, J. & STRU-GALSKA, H. - Myotubular myopathy. J. Neurol. Sei. 8:563, 1969.
5. BAJTJSZ. E. - Red skeletal muscle fibers: relative independence of neural control. Science 146:938, 1964.
6. BETHLEM, J.; MEIJER, A. E. F. H.; SCHELLENS, J. P. M. & VROOM, J. J. Centronuclear myopathy. Europ. Neurol. 1:325, 1968.
7. BETHLEM, J.; VAN WIJNGAARDEN, G. K.: MEIJER, A. E. F. H. & HULS-MDNN, W. C. - Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures. Neurology (Minneapolis) 19:706, 1969.
8. BETHLEM, J.; VAN WIJNGAARDEN, G. K.; MUMENTHALER, M. & MEIJER, A. E. F. H. - Centronuclear myopathy with fiber atrophy and myotubes. Arch. Neurol. (Chicago) 23:70, 1970.
9. BRADLEY, W. G. - Disorders of Peripheral Nerves. Bladkvell, Oxford, 1974.
10. BRADLEY, W. G.; PRICE, D. L. & WATANABE, C. K. - Familiar centronuclear myopathy. J. Neurol. Neurosurg. Psychiat. (London) 33:687, 1970.
11. BROOKE, M. H. & WILLIAMSON, T. - An adult case of type I muscle fiber hypothophy: an abnormality of monosynaptic reflex function. Neurology (Minneapolis) 19:280, 1969.
12. CHAYEN, J.; BITENSKI, L. & BUTCHER, R. G. - Practical Histochemistry. John Willy & Sons, London, 1973.
13. COLEMAN, R. F.; THOMPSON, L. R.; NIEHUIS, A. W.; MUNSAT, T. L. & PEARSON, C. M. - Histochemical investigation of myotubular myopathy. Arch. Path. 86:366, 1968.
14. DUBOWITZ, V. - Developing and diseaded muscle: a histochemical study. Spastics International, Medical Publications Research. Monograph 2:106, 1968.
15. DUBOWITZ, V. & BROOKE, M. H. - Muscle Biopsy: A Modern Approach. Saunders, London, 1973.
16. DUCHEN, L. W. - Changes in motor innervation and cholinesterase localization induced by botulinum toxin in skeletal muscle of the mouse: differences between fast and slow muscles. J. Neurol. Neurosurg. Pshychiat. (London) 33:40, 1970.
17. 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.
18. ENGEL, W. K. & WARMOLTS, J. H. - The motor-unit disease affecting in toto or portio. In DESMEDT, J. E. - New Developments in Electromyography and Clinical Neurology. Karger Libri, Basel, vol. 1, pág. 141-177, 1973.
19. FARKAS-BERGETON, E.; DIEBLER, M. F.; ARSÉNIO-NUNES, M. L.; WEHRLÉ, R. & ROSENBERG, B. - Étude de la maturaiton histochimique, quantitative et ultraestructurale du muscle foetal humain. J. Neurol. Sci. 31:245, 1977.
20. HALTIA, M.; BERLIN, O.; SCHUCHT, H. & SOURANDER, P. - Post-natal differentiation and growth of skeletal muscle fibers in normal and undernourished rats: a histochemical and morphometric study. J. Neurol. Sci. 36:25, 1978.
21. HARRIMAN, D. G. F. & HALEEM, M. A. - Centronuclear myopathy in old age. J. Path. 108:237,
22. HEADINGTON, J. T.; McNAMARA, J. O. & BROWNELL, A. K. - Centronuclear myopathy: histochemistry and electron microscopy. - Arch. Pathol. 99:16, 1975.
23. INOKUCHI, T.; UMEZAKI, H. & SANTA, T. - A case of type I muscle fiber hypotrophy and internal nuclei. J. Neurol. Neurosurg. Psychiat. (London)) 38: 475, 1975.
24. KARPATI, G.; CARPENTER, S. & NELSON, R. F. - Type I muscle fiber atrophy and central nuclei: a rare familial neuromuscular disease. J. Neurol. Sci. 10:489, 1970.
25. KENT, S. P. - Diffusion of plasma proteins into cells: a manifestation of cell injury in rabbit skeletal muscle exposed to lecithinase C. Arch. Pathol. 88:407, 1969.
26. KINOSHITA, M. & CADMAN, T. E. - Myotubular myopathy. Arch. Neurol. (Chicago) 18:265, 1968.
27. McLEOD, J. G.; BAKER, W. C; LETHLEAN, A. K. & SHOREY, C. D. - Centronuclear myopathy with autosomal dominant inheritance. J. Neurol. Sci. 15:375, 1972.
28. MUNSAT, T. L.; THOMPSON, L. R. & COLEMAN, R. F. - Centronuclear (myotubular) myopathy. Arch. Neurol. (Chicago) 20:120, 1969.
29. ORTIZ DE ZARATE, J. C. & MARUFFO, A. - The descending ocular myopathy. Europ. Neurol. 3:1-12,
30. PeBENITO, R.; SHER J. H. & CRACCO, J. B. - Centronuclear myopathy: clinical and pathological features. Clin. Pediatr. 17:259, 1978.
31. PÉPIN, B.; MIKOL, J.; GOLDSTEIN, B.; HAGUENAU, M. & GODLEWSKI, S. - Forme familiale de myiopathie centronucléaire de l'adulte. Rev. Neurol. (Paris) 132:845, 1976.
32. RADU, H.; IONESCU, V.; RADU, A.; PALER, V.; ROSU, A. M. & MARIAN, A. - Hypotrophic type I muscle fibers with central nuclei, and central myofibrilar lysis preferentially involving type II fibers. Europ. Neurol. 11:108, 1974.
33. SCHOCHET, S. S.; ZELLWEGER, H.: IONASESCU, V. & McCORMICK, W. F. - Centronuclear myopathy: disease or a syndrome? Light and electron-microscopic study of two cases and review of the literature. J. Neurol. Sci. 16:215, 1972.
34. SHER, J. H.; RIMALOVSKI, A. B.; ATHANASSIADES, T. J. & ARONSON, S. M. - Familial centronuclear myopathy: a clinical and pathological study. Neurology (Minneapolis) 17:727, 1967.
35. SICA, R. E. P. & SANZ, O. P. - Neuropathy in myotubular or centronuclear myopathy. Arq. Neuro-psiquiatr. (Săo Paulo) 35:247, 1977.
36. SOUSA, R. P.; MIRANDA, D.; PERPETUO, F. O. L.; CAMPOS, G. B. & VU-LETIN, J. C. - Miopatia miotubular ou centronuclear: relato de um caso e revisăo da literatura, Arq. Neuro-Psiquiat. (Sfto Paulo) 35:247, 1977.
37. SPIRO, A. J.; SHY, G. M. & GONATAS, N. K. - Myotubular myopathy: persistence of fetal muscle in an adolescent boy. - Arch. Neurol. (Chicago) 14:1-14, 1966.
38. SYROVY, I. & GUTMANN, E. - Differentiation of myosin in soleus and extensor digitorum longus muscle in different animal species during development. Pflugers Arch. 369:85, 1977.
39. TELLO, J. F. - Genesis de las terminaciones nerviosas motrices y sensitivas, en el sistema locomotor de los vertebrados superiores: histogenesis muscular. Trab. Lab. Invest. Biol. Univ. Madrid 15:101-199, 1917.
40. VITAL, C. L.; VALLAT, J. M.; MARTIN, F.; LE BLANC, M. & BERGOUIGNAN, M. - Étude clinique et ultrastructurale d'un cas de myopathie centronucléaire (myotubular myopathy) de l'adulte. - Rev. Neurol. (Paris) 123:117, 1970.
41. VAN WIJNGAARDEN, G. K.; FLEURY, P.; BETHLEM, J. & MEIJER, A. B. F. H. - Familiar myotubular myopathy. Neurology (Minneapolis) 19:901, 1969.

Datas de Publicação

Publicação nesta coleção
23 Ago 2012
Data do Fascículo
Dez 1981

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

[1] 1. ALONSO, J. L. - Eletromiografia. Revista Brasileira de Fisiatria (Belo Horizonte) 1:153, 1972.

[2] 2. ALSOP, D. W. - Rapid single-solution polychrome staining of semithin apoxy sections using polyethylene Glycol 200 (PEG 200) as stain solvent. Stain Tecnol. 49:266, 1974.

[3] 3. ASKANAS, V.; SHAFIQ, S. A. & MILHORAT, A. T. - Histochemistry of culture aneural chick muscle: morphologic maturation without differentiation of fibers types. Exp. Neurol. 37:218, 1972.

[4] 4. BADURSKA, B.; FIDZIANSKA, A.; KAMIENIEGKA, Z.; PROT, J. & STRU-GALSKA, H. - Myotubular myopathy. J. Neurol. Sei. 8:563, 1969.

[5] 5. BAJTJSZ. E. - Red skeletal muscle fibers: relative independence of neural control. Science 146:938, 1964.

[6] 6. BETHLEM, J.; MEIJER, A. E. F. H.; SCHELLENS, J. P. M. & VROOM, J. J. Centronuclear myopathy. Europ. Neurol. 1:325, 1968.

[7] 7. BETHLEM, J.; VAN WIJNGAARDEN, G. K.: MEIJER, A. E. F. H. & HULS-MDNN, W. C. - Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures. Neurology (Minneapolis) 19:706, 1969.

[8] 8. BETHLEM, J.; VAN WIJNGAARDEN, G. K.; MUMENTHALER, M. & MEIJER, A. E. F. H. - Centronuclear myopathy with fiber atrophy and myotubes. Arch. Neurol. (Chicago) 23:70, 1970.

[9] 9. BRADLEY, W. G. - Disorders of Peripheral Nerves. Bladkvell, Oxford, 1974.

[10] 10. BRADLEY, W. G.; PRICE, D. L. & WATANABE, C. K. - Familiar centronuclear myopathy. J. Neurol. Neurosurg. Psychiat. (London) 33:687, 1970.

[11] 11. BROOKE, M. H. & WILLIAMSON, T. - An adult case of type I muscle fiber hypothophy: an abnormality of monosynaptic reflex function. Neurology (Minneapolis) 19:280, 1969.

[12] 12. CHAYEN, J.; BITENSKI, L. & BUTCHER, R. G. - Practical Histochemistry. John Willy & Sons, London, 1973.

[13] 13. COLEMAN, R. F.; THOMPSON, L. R.; NIEHUIS, A. W.; MUNSAT, T. L. & PEARSON, C. M. - Histochemical investigation of myotubular myopathy. Arch. Path. 86:366, 1968.

[14] 14. DUBOWITZ, V. - Developing and diseaded muscle: a histochemical study. Spastics International, Medical Publications Research. Monograph 2:106, 1968.

[15] 15. DUBOWITZ, V. & BROOKE, M. H. - Muscle Biopsy: A Modern Approach. Saunders, London, 1973.

[16] 16. DUCHEN, L. W. - Changes in motor innervation and cholinesterase localization induced by botulinum toxin in skeletal muscle of the mouse: differences between fast and slow muscles. J. Neurol. Neurosurg. Pshychiat. (London) 33:40, 1970.

[17] 17. 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.

[18] 18. ENGEL, W. K. & WARMOLTS, J. H. - The motor-unit disease affecting in toto or portio. In DESMEDT, J. E. - New Developments in Electromyography and Clinical Neurology. Karger Libri, Basel, vol. 1, pág. 141-177, 1973.

[19] 19. FARKAS-BERGETON, E.; DIEBLER, M. F.; ARSÉNIO-NUNES, M. L.; WEHRLÉ, R. & ROSENBERG, B. - Étude de la maturaiton histochimique, quantitative et ultraestructurale du muscle foetal humain. J. Neurol. Sci. 31:245, 1977.

[20] 20. HALTIA, M.; BERLIN, O.; SCHUCHT, H. & SOURANDER, P. - Post-natal differentiation and growth of skeletal muscle fibers in normal and undernourished rats: a histochemical and morphometric study. J. Neurol. Sci. 36:25, 1978.

[21] 21. HARRIMAN, D. G. F. & HALEEM, M. A. - Centronuclear myopathy in old age. J. Path. 108:237,

[22] 22. HEADINGTON, J. T.; McNAMARA, J. O. & BROWNELL, A. K. - Centronuclear myopathy: histochemistry and electron microscopy. - Arch. Pathol. 99:16, 1975.

[23] 23. INOKUCHI, T.; UMEZAKI, H. & SANTA, T. - A case of type I muscle fiber hypotrophy and internal nuclei. J. Neurol. Neurosurg. Psychiat. (London)) 38: 475, 1975.

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

[25] 25. KENT, S. P. - Diffusion of plasma proteins into cells: a manifestation of cell injury in rabbit skeletal muscle exposed to lecithinase C. Arch. Pathol. 88:407, 1969.

[26] 26. KINOSHITA, M. & CADMAN, T. E. - Myotubular myopathy. Arch. Neurol. (Chicago) 18:265, 1968.

[27] 27. McLEOD, J. G.; BAKER, W. C; LETHLEAN, A. K. & SHOREY, C. D. - Centronuclear myopathy with autosomal dominant inheritance. J. Neurol. Sci. 15:375, 1972.

[28] 28. MUNSAT, T. L.; THOMPSON, L. R. & COLEMAN, R. F. - Centronuclear (myotubular) myopathy. Arch. Neurol. (Chicago) 20:120, 1969.

[29] 29. ORTIZ DE ZARATE, J. C. & MARUFFO, A. - The descending ocular myopathy. Europ. Neurol. 3:1-12,

[30] 30. PeBENITO, R.; SHER J. H. & CRACCO, J. B. - Centronuclear myopathy: clinical and pathological features. Clin. Pediatr. 17:259, 1978.

[31] 31. PÉPIN, B.; MIKOL, J.; GOLDSTEIN, B.; HAGUENAU, M. & GODLEWSKI, S. - Forme familiale de myiopathie centronucléaire de l'adulte. Rev. Neurol. (Paris) 132:845, 1976.

[32] 32. RADU, H.; IONESCU, V.; RADU, A.; PALER, V.; ROSU, A. M. & MARIAN, A. - Hypotrophic type I muscle fibers with central nuclei, and central myofibrilar lysis preferentially involving type II fibers. Europ. Neurol. 11:108, 1974.

[33] 33. SCHOCHET, S. S.; ZELLWEGER, H.: IONASESCU, V. & McCORMICK, W. F. - Centronuclear myopathy: disease or a syndrome? Light and electron-microscopic study of two cases and review of the literature. J. Neurol. Sci. 16:215, 1972.

[34] 34. SHER, J. H.; RIMALOVSKI, A. B.; ATHANASSIADES, T. J. & ARONSON, S. M. - Familial centronuclear myopathy: a clinical and pathological study. Neurology (Minneapolis) 17:727, 1967.

[35] 35. SICA, R. E. P. & SANZ, O. P. - Neuropathy in myotubular or centronuclear myopathy. Arq. Neuro-psiquiatr. (Săo Paulo) 35:247, 1977.

[36] 36. SOUSA, R. P.; MIRANDA, D.; PERPETUO, F. O. L.; CAMPOS, G. B. & VU-LETIN, J. C. - Miopatia miotubular ou centronuclear: relato de um caso e revisăo da literatura, Arq. Neuro-Psiquiat. (Sfto Paulo) 35:247, 1977.

[37] 37. SPIRO, A. J.; SHY, G. M. & GONATAS, N. K. - Myotubular myopathy: persistence of fetal muscle in an adolescent boy. - Arch. Neurol. (Chicago) 14:1-14, 1966.

[38] 38. SYROVY, I. & GUTMANN, E. - Differentiation of myosin in soleus and extensor digitorum longus muscle in different animal species during development. Pflugers Arch. 369:85, 1977.

[39] 39. TELLO, J. F. - Genesis de las terminaciones nerviosas motrices y sensitivas, en el sistema locomotor de los vertebrados superiores: histogenesis muscular. Trab. Lab. Invest. Biol. Univ. Madrid 15:101-199, 1917.

[40] 40. VITAL, C. L.; VALLAT, J. M.; MARTIN, F.; LE BLANC, M. & BERGOUIGNAN, M. - Étude clinique et ultrastructurale d'un cas de myopathie centronucléaire (myotubular myopathy) de l'adulte. - Rev. Neurol. (Paris) 123:117, 1970.

[41] 41. VAN WIJNGAARDEN, G. K.; FLEURY, P.; BETHLEM, J. & MEIJER, A. B. F. H. - Familiar myotubular myopathy. Neurology (Minneapolis) 19:901, 1969.