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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.39 no.2 São Paulo June 1981

http://dx.doi.org/10.1590/S0004-282X1981000200012 

Miopatia do "core central": relato de um caso

 

Central core disease: a case report

 

 

Lineu Cesar WerneckI; Carlos Eduardo SilvadoII

IProfessor Assistente de Neurologia. Departamento de Clínica Médica, Universidade Federal do Paraná
IINeurologista e Mestrando de Medicina Interna. Departamento de Clínica Médica, Universidade Federal do Paraná

 

 


RESUMO

É relatado o caso de um menino de 6 anos, branco, que apresentou hipotonia desde o nascimento, e retardo no desenvolvimento motor, que vem regredindo parcial e espontâneamente. A investigação laboratorial foi normal, com eletromiografia alterada. A biópsia muscular processada pela histoquímica, revelou importante predomínio de fibras do tipo I, ausência de atividade no centro das fibras musculares para as enzimas DPNH-diaforase e desidrogenase succínica, com atividade normal e até aumentada em algumas fibras durante as reações para as ATPases. São feitos breves comentários a respeito da patologia e patogenia, enfatizando a benignidade da doença.


SUMMARY

A case of a 6 years-old boy, with delayed motor milestones, hypotonia since birth (floppy baby), showing a partial improvement in the latter years is reported. On physical examination was found difuse muscle atrophy, lordosis, generalized hiporreflexia and Gowers maneuver during standing procedure. Serum enzymes were normal and electromiography had potential with increased duration and excess of polyphasic potenciais. Fresh-frozen muscle biopsy processed by histochemistry showed type 1 fiber predominance, abscense of oxidative enzymes activity in the center of the fibers (central cores) and slight increased of the ATPase reaction in the cores area (structured cores?). Is made a brief discussion about the pathology, pathogenesis, and the good prognosis of the disease.


 

 

Texto completo disponível apenas em PDF.

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REFERENCIAS

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Trabalho realizado na Disciplina de Neurologia, Departamento de Clínica Médica, Universidade Federal do Paraná.
Disciplina de Neurologia - Departamento de Clínica Médica - Hospital de Clínicas - Rua General Carneiro, 180, 13o andar - 80000 Curitiba, PR.

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