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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.46 no.2 São Paulo June 1988

http://dx.doi.org/10.1590/S0004-282X1988000200009 

Síndrome de Isaacs: relato de um caso

 

Isaacs syndrome: a case report

 

 

Hélio Ghizoni TeiveI; Walter Oleschko ArrudaII; Nabil Elias BittarI; Ana Marlene GorzII; Guilberto MinguettiIII

IMédico Residente - Departamento de Clínica Médica, Especialidade de Neurologia, Hospital das Clínicas da Universidade Federal do Paraná (UFPR)
IINeurologista - Departamento de Clínica Médica, Especialidade de Neurologia, Hospital das Clínicas da Universidade Federal do Paraná (UFPR)
IIIProfessor Adjunto, PhD - Trabalho realizado no Departamento de Clínica Médica, Especialidade de Neurologia, Hospital das Clínicas da Universidade Federal do Paraná (UFPR)

 

 


RESUMO

Relato do caso de paciente do sexo feminino com 40 anos de idade, com quadro progressivo de diminuição de força, disfonia, disfagia, dispnéia e hiperidrose. O exame físico revelava contratura em flexão das mãos, déficit de força muscular, fasciculações, mioquimia facial e pseudomiotonia nas mãos, A eletromiografia mostrou atividade elétrica contínua em repouso. O estudo histoquímico muscular revelou atrofia de fibras do tipo II, enquanto a microscopia eletrônica mostrou dilatação importante das cisternas do retículo sarcoplasmático. O diagnóstico de síndrome de Isaacs foi firmado. Excelente resposta clínica ao emprego de carbamazepina foi observada. São discutidos e revistos vários aspectos relacionados a essa rara síndrome.


SUMMARY

The authors report a case of Isaacs syndrome observed in a 40 years old woman. The clinical picture included progressive muscular weakness, dysphagia, dysphonia, dyspnea and increased perspiration. Fasciculations, facial myokymia and pseudomyotonia were observed on physical examination. Electromyographic study at rest revealed continuous electrical muscle activity. Muscle histochemistry showed type II fibers atrophy and an ultrastructural study of the gastrocnemius muscle disclosed marked cysternal dilatation of the sarcoplasmatic reticulum. An excelent clinical response was observed with the use of carbamazepine. Some recent aspects of this rare syndrome are reviewed and discussed.


 

 

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Trabalho realizado no Departamento de Clínica Médica, Especialidade de Neurologia, Hospital das Clínicas da Universidade Federal do Paraná (UFPR).
Apresentado como Tema Livre no XII Congresso Brasileiro de Neurologia (Belo Horizonte, setembro 1986)
Rua Brigadeiro Franco 122 - 80410 Curitiba PR - Brasil.

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