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Mitochondrial myopathy with respiratory muscle involvement: a case report

Miopatia mitocondrial com acometimento severo da musculatura respiratória

Abstracts

A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported. The institution of assisted respiration at night allowed the patient to return to her daily activities. Examination of muscular biopsy with ultra-microscope permitted the diagnosis of mitochondrial myopathy.


É relatado o caso de uma paciente de 10 anos de idade com miopatia congênita benigna que agravou-se subitamente em virtude do déficit acentuado da musculatura respiratória. A instituição de respiração assistida durante a noite permitiu a volta da paciente a suas atividades diárias. O exame de biópsia muscular ao ultra microscópio permitiu o diagnóstico de miopatia mitocondrial.


Mitochondrial myopathy with respiratory muscle involvement: a case report

Miopatia mitocondrial com acometimento severo da musculatura respiratória

J. A. LevyI; Ana M. TsanaclisII; P. A. P. SaraivaIII; Carmen C. MionIV; Paulo N. B. SalumIV

IAdjunct Professor. Center for Investigations in Neurology of the Neurological Clinic of São Paulo University Medical School

IIAssistant Professor, Department for Pathological Anatomy. Center for Investigations in Neurology of the Neurological Clinic of São Paulo University Medical School

IIIDirector, Service of Anesthesiology. Center for Investigations in Neurology of the Neurological Clinic of São Paulo University Medical School

IVAssociated Researcher. Center for Investigations in Neurology of the Neurological Clinic of São Paulo University Medical School

SUMMARY

A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported. The institution of assisted respiration at night allowed the patient to return to her daily activities. Examination of muscular biopsy with ultra-microscope permitted the diagnosis of mitochondrial myopathy.

RESUMO

É relatado o caso de uma paciente de 10 anos de idade com miopatia congênita benigna que agravou-se subitamente em virtude do déficit acentuado da musculatura respiratória. A instituição de respiração assistida durante a noite permitiu a volta da paciente a suas atividades diárias. O exame de biópsia muscular ao ultra microscópio permitiu o diagnóstico de miopatia mitocondrial.

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This work was carried out at the Center for Investigations in Neurology of the Neurological Clinic of São Paulo University Medical School.

Centro de Investigações em Neurologia -Caixa Postal 5199 - 01000 São Paulo, SP - Brasil.

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Publication Dates

  • Publication in this collection
    14 Aug 2012
  • Date of issue
    Mar 1983
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