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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

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

Chronic progressive external ophthalmoplegia: II. A qualitative and quantitative electronmicroscopy study of skeletal muscles


Oftalmoplegia externa crônica progressiva: II. Estudo qualitativo e quantitativo por microscopia eletrônica de músculos esqueléticos



Elza Dias-Tosta

M.D., Ph.D. - Neurocytology Laboratory, National Hospital for Nervous Diseases, University of London, Queen Square, London, England




This study quantifies the maior electron microscopic changes in limb muscle biopsies from 31 out of 34 patients with the syndrome of chronic progressive external ophthalmoplegia. Patients were divided into three clinical groups - A) 10 sporadic cases with muscle weakness only; B) 9 familial cases with muscle weakness only; C) 15 cases with muscle weakness and one or more of the following features: pigmentary retinopathy, cerebellar ataxia, pyramidal signs and peripheral neuropathy. Electron microscopic mitochondrial abnormalities were found in all groups (8 patients from group A, 3 from group B, 14 from group C). Quantitative measurements of certain muscle fibre constituents, using a point-counting technique, revealed decreased myofibril volume-fractions and increased volume-fractions of mitochondria, glycogen and lipid in some biopsies from each group. Mitochondrial volume-fractions correlated positively with lipid content, the proportion of type 1 fibres, and the percentage of fibres with increased oxidative enzyme activity. The three groups defined clinically showed no significant differences in terms of the relative proportions of these measured constituents.


Trata-se de estudo quantitativo das principais alterações encontradas em microscopia eletrônica de biópsia de músculos somáticos de 31 entre 34 pacientes com síndrome de oftalmoplegia externa crônica e progressiva (OECP). Os pacientes foram divididos em três grupos clínicos - A) 10 casos esporádicos, com OECP e fraqueza muscular; B) 9 casos com história familiar positiva, OECP e fraqueza muscular; C) 15 casos com OECP, fraqueza muscular e alguns dos seguintes sintomas: retinopatia pigmentar, ataxia cerebelar, sinais piramidais e neuropatia periférica. Foram encontradas alterações em todos os grupos (8 do grupo A, três do grupo B e 14 do grupo C).
As avaliações quantitativas de certos constituintes das fibras musculares, usando a técnica de contagem de pontos revelou: diminuição da fração-volumétrica de miofibrilas, aumento das frações-volumétricas de mitocôndria, glicogênio e lipídeos. As frações-volumétricas de mitocôndria correlacionam positivamente com o conteúdo lipídico, com a proporção de fibras do tipo 1 e com a percentagem de fibras com aumento da atividade enzimática oxidativa (definidas em estudo anterior). Os três grupos definidos clinicamente não mostraram diferenças significativas em termos de. proporções relativas dos constituintes analisados.



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Aknowledgements - Grateful aknowledgement is made to Dr. D.N. Landon and Dr. J.A. Morgan-Hughes for collaboration in this study with their laboratory facilities and helpful discussion. I am grateful to Miss E. Paul for her help with the statistics analysis, to Mr. B. Young and Miss L. Collins for excelent technical assistance. I also thank the physicians of the National Hospital for Nervous Diseases who allowed me to study patients under their care. The author was supported during preparation of this work by the Brazilian Government.



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Unidade de Neurologia, Hospital de Base do Distrito Federal - 10000 Brasília DF - Brasil.

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