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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.39 no.4 São Paulo Dec. 1981 


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


Myotubular myopathy: clinical electrophysiological and histological study of a case




José L. AlonsoI;  Maria J. CavaliereII; Sonia M. GagiotiII; Açucena A. AtaliaII; Ivana NascimentoIII; José C. Souza DiasIV

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





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.





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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.


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