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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.35 no.3 São Paulo Sept. 1977

http://dx.doi.org/10.1590/S0004-282X1977000300009 

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 SousaI; Dairton MirandaII; Francisco Otaviano L. PerpetuoIII; Gilberto Belisario CamposIV; J. C. VuletinV

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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REFERENCIAS

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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.

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