Miopatia miotubular ou centronuclear: relato de caso e revisão da literatura

Sousa, Roscicler Pereira de; Miranda, Dairton; Perpetuo, Francisco Otaviano L.; Campos, Gilberto Belisario; Vuletin, J. C.

doi:10.1590/S0004-282X1977000300009

Resumos

É relatado um caso de miopatia miotubular ou centronuclear em paciente de 13 anos de idade, do sexo masculino, com história de hipotonia e ptose palpebral congênitas. Estudos clínicos, eletromiográficos e anátomopatológicos (inclusive microscopia eletrônica) evidenciaram achados comparáveis aos encontrados na revisão bibliográfica. São também discutidos os diagnósticos diferenciais e os achados de microscopia eletrônica.

A case of centronuclear or myotubular myopathy in a 13-year-old boy who was admitted with hypotonia and congenital ptosis is reported. Clinical, electromyographic and pathologic studies are discussed. A review of the electron microscopic features and comparison with our findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.

Miopatia miotubular ou centronuclear: relato de caso e revisão da literatura

Myotubular or centronuclear myopathy: report of a case and review of the literature

Roscicler Pereira de Sousa^I; Dairton Miranda^II; Francisco Otaviano L. Perpetuo^III; Gilberto Belisario Campos^IV; J. C. Vuletin^V

^IMédico Residente. Departamento de Neurologia e Neurocirurgia do Hospital das Clínicas da Faculdade de Medicina (UFMG)

^IIProfessor Assistente e Chefe do Serviço de Anatomia Patológica Oftálmica da Faculdade de Medicina UFMG

^IIIProfessor Assistente. Departamento de Neurologia e Neurocirurgia do Hospital das Clínicas da Faculdade de Medicina (UFMG)

^IVIProfessor Adjunto. Departamento de Neurologia e Neurocirurgia do Hospital das Clínicas da Faculdade de Medicina (UFMG)

^VAssistant Professor, State University of New York, Downstate Medical Center, Brooklyn, N.Y., U.S.A

RESUMO

É relatado um caso de miopatia miotubular ou centronuclear em paciente de 13 anos de idade, do sexo masculino, com história de hipotonia e ptose palpebral congênitas. Estudos clínicos, eletromiográficos e anátomopatológicos (inclusive microscopia eletrônica) evidenciaram achados comparáveis aos encontrados na revisão bibliográfica. São também discutidos os diagnósticos diferenciais e os achados de microscopia eletrônica.

SUMMARY

A case of centronuclear or myotubular myopathy in a 13-year-old boy who was admitted with hypotonia and congenital ptosis is reported. Clinical, electromyographic and pathologic studies are discussed. A review of the electron microscopic features and comparison with our findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.

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Trabalho do Departamento de Neurologia e Neurocirurgia do Hospital das Clínicas da Faculdade de Medicina (UFMG).

Agradecimentos - Os autores agradecem ao Dr. Armando Pereira Carneiro pelo estudo eletrofisiológico e à Dra. Climene S. Mendonça Alvarenga pelo teste "Escala de Inteligência Wechsler para crianças - WISC".

Clínica Neurológica - Hospital das Clíínicas, Faculdade de Medicina Universidade Federal de Minas Gerais - Avenida Alfredo Balena s/n - 30000 Belo Horizonte, MG - Brasil.

1. BADURSKA, B.; FIDZIANSKA. A.; KAMINIECKA. Z; PROT. J. & STRUGALSKA, H. - Hyotubular myopathy. J. neurol. Sci. 8:563. 1971.
2. BETHLEM, J.: MEIJER, A. E. F. H.; SCHELLENS, J.P. M. & VROOM, J.J. - Centronuclear myopathy. Europ. Neurol. 1:325, 1968.
3. BETHLEM, J.; VAN WIJNGAARDEN. G.K.; MEIJER, A.E.F.H. & HULSMANN, W.C - Neuromuscular disease with type I fiber atrophy central nuclei, and myotubelike structures. Neurology (Minneap.) 19:706, 1969.
4. BETHLEM, J.; VAN WIJNGAARDEN. G.K.; MUMENTHALER, M. & MEIJER. A.E.F.H. - Centronuclear myopathy with type I fiber atrophy and "myotubes". Arch. Neurol. (Chicago) 23:70, 1970.
5. BRADLEY, W.G.; PRICE, D.L. & WATANABE, C.K. - Familial centronuclear myopathy. J. Neurol. Neuroeurg. Psychlat. 88:687, 1970.
6. CAMPBELL, M.J.; REBEIZ, J.J. & WALTON, J. N. - Myotubular, centronuclear or peri-centronuclear myopathy J. neurol. Sci. 8:425. 1969.
7. COLEMAN, R.F.; THOMPSON, L.R.; NIEHUIS. A.W.; MUNSAT, T.L. & PEARSON, CM. - Histochemical investigation of "myotubular" myopathy. Arch. Path. 86:365. 1968
8. ENGEL. W.K.; GOLD, G.M. & KARPATI, G. - Type I fiber hypotrophy and central nuclei. Arch. Neurol. (Chicago) 18:435, 1968.
9. HARRIMAN. D.G.F. & HALLEEM. M.A. - Centronuclear myopathy in old age. J. Path. 108:237. 1972.
10. INOKUCHI, T.; UMEZAKI, H. & SANTA, T. - A case of type I muscle fibre hypotrophy and internal nuclei. J. Neurol. Neurosurg. Psychiat. 38:475, 1975.
11. KARPATI, G.; CARPENTER, S. & NELSON, R.F. - Type I muscle fibre atrophy and centra] nuclei. A rare familial neuromuscular disease. J. neurol. Sci. 10:489. 1970.
12. KINOSHITA. M. & CADMAN. T.E. - Myotubular myopathy. Arch. Neurol. (Chicago) 18:265. 1968.
13. McLEOD. J.G.; BAKER, W.C.; LETHLEAN. A.L. & SHOREY, CD. - Centronuclear myopathy with autosomal dominant inheritance. J. neurol. Sci. 15:375. 1972.
14. MUNSAT T.L.; THOMPSON, L.R. & COLEMAN. R.F. - Centronuclear ("Myotubular") myopathy. Arch. Neurol. 20:120. 1969.
15. ORTIZ DE ZARATE, J.C. & MARUFFO. A. - The descending ocular myopathy of early childhood Myotubular or centronuclear myopathy. Europ. Neurol. 3:1, 1970.
16. PERLSTEIN, M.A.; GIBBS, F.A.; GIBBS, E.L. & STEIN, M.D. - Electroencephalogram and myopathy. J. Amer. med. Ass. 173:1329, 1960.
17. RADU, H.; IONESCU, V.; RADU, A.; PALLER, V.; ROSU A. M. & MARIAN, A. - Hypotrophic type I muscle fibres with central nuclei, and central myofibrillar lysis preferentially involving type II fibres. Europ. Neurol. 11:108, 1974.
18. SAPER, J.R. - Benign congenital myopathy. Amer. J. Med. 57:157, 1974.
19. SCHOCHET, S.S.; ZELLWEGER, H.; IONASESCU, V. & McCORMICK, W.F. - Centronuclear myopathy: disease entity or a syndrome? Light and electron-microscopic study of two cases and review of the literature. J. neurol. Sci. 16:215. 1973.
20. 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.
21. SHER, J.H.; RIMALOVSKI, A.B.; ATHANASSIADES, T.J. & ARONSON, S.M. - Familial myotubular myopathy: a clinical, pathological, histochemical and ultrastructural study. J. Neurop. Exp. Neurol. 26:132, 1967.
22. SICA, R.E.P. & SANZ, O.P. - Neuropathy in myotubular or centronuclear myopathy. Arq. Neuro-Psiquiat. (São Paulo) 33:128, 1975.
23. SPIRO. A.J.; SHY, G.M. & GONATAS N.K. - Myotubular myopathy: persissistance of fetal muscle in an adolescent boy. Arch. Neurol. (Chicago) 14:1, 1966.
24. VAN WIJNGAARDEN, G.K.; FLEURY, P.; BETHLEM, J. & MEIJER, A.E.F.H. - Familial "myotubular" myopathy. Neurology (Minneapolis) 19:901, 1969.
25. VITAL, CL; VALLAT, J.M.; MARTIN, F.; LE BLANC, M. & BERGOUIGNAN, M. - Étude clinique et ultrastructurale d'un cas de myopathic centronucléaire (myotubular myopathy) de l'adulte. Rev. Neurol. (Paris) 123:117, 1970.

Datas de Publicação

Publicação nesta coleção
30 Ago 2012
Data do Fascículo
Set 1977

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

[1] 1. BADURSKA, B.; FIDZIANSKA. A.; KAMINIECKA. Z; PROT. J. & STRUGALSKA, H. - Hyotubular myopathy. J. neurol. Sci. 8:563. 1971.

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

[3] 3. BETHLEM, J.; VAN WIJNGAARDEN. G.K.; MEIJER, A.E.F.H. & HULSMANN, W.C - Neuromuscular disease with type I fiber atrophy central nuclei, and myotubelike structures. Neurology (Minneap.) 19:706, 1969.

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

[5] 5. BRADLEY, W.G.; PRICE, D.L. & WATANABE, C.K. - Familial centronuclear myopathy. J. Neurol. Neuroeurg. Psychlat. 88:687, 1970.

[6] 6. CAMPBELL, M.J.; REBEIZ, J.J. & WALTON, J. N. - Myotubular, centronuclear or peri-centronuclear myopathy J. neurol. Sci. 8:425. 1969.

[7] 7. COLEMAN, R.F.; THOMPSON, L.R.; NIEHUIS. A.W.; MUNSAT, T.L. & PEARSON, CM. - Histochemical investigation of "myotubular" myopathy. Arch. Path. 86:365. 1968

[8] 8. ENGEL. W.K.; GOLD, G.M. & KARPATI, G. - Type I fiber hypotrophy and central nuclei. Arch. Neurol. (Chicago) 18:435, 1968.

[9] 9. HARRIMAN. D.G.F. & HALLEEM. M.A. - Centronuclear myopathy in old age. J. Path. 108:237. 1972.

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

[11] 11. KARPATI, G.; CARPENTER, S. & NELSON, R.F. - Type I muscle fibre atrophy and centra] nuclei. A rare familial neuromuscular disease. J. neurol. Sci. 10:489. 1970.

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

[13] 13. McLEOD. J.G.; BAKER, W.C.; LETHLEAN. A.L. & SHOREY, CD. - Centronuclear myopathy with autosomal dominant inheritance. J. neurol. Sci. 15:375. 1972.

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

[15] 15. ORTIZ DE ZARATE, J.C. & MARUFFO. A. - The descending ocular myopathy of early childhood Myotubular or centronuclear myopathy. Europ. Neurol. 3:1, 1970.

[16] 16. PERLSTEIN, M.A.; GIBBS, F.A.; GIBBS, E.L. & STEIN, M.D. - Electroencephalogram and myopathy. J. Amer. med. Ass. 173:1329, 1960.

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

[18] 18. SAPER, J.R. - Benign congenital myopathy. Amer. J. Med. 57:157, 1974.

[19] 19. SCHOCHET, S.S.; ZELLWEGER, H.; IONASESCU, V. & McCORMICK, W.F. - Centronuclear myopathy: disease entity or a syndrome? Light and electron-microscopic study of two cases and review of the literature. J. neurol. Sci. 16:215. 1973.

[20] 20. 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.

[21] 21. SHER, J.H.; RIMALOVSKI, A.B.; ATHANASSIADES, T.J. & ARONSON, S.M. - Familial myotubular myopathy: a clinical, pathological, histochemical and ultrastructural study. J. Neurop. Exp. Neurol. 26:132, 1967.

[22] 22. SICA, R.E.P. & SANZ, O.P. - Neuropathy in myotubular or centronuclear myopathy. Arq. Neuro-Psiquiat. (São Paulo) 33:128, 1975.

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

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

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