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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.54 no.1 São Paulo Mar. 1996

http://dx.doi.org/10.1590/S0004-282X1996000100019 

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso

 

Nemalinic myopathy with intracytoplasmic spheroid bodies: case report

 

 

Helga C. A. AzevedoI; Mary S. CarvalhoII; Sueli K. Nagahashi -MarieIII; Martha N. S. DelgadoI; Alzira A. Siqueira-CarvalhoI; Paulo N. B. SalumIII; José A. LevyIV

IMédico Estagiário
IIMédico Assistente Doutor
IIIMédico Assistente
IVProfessor Associado

 

 


RESUMO

Os autores relatam o caso de paciente do sexo feminino de 18 anos de idade com fraqueza lentamente progressiva nos quatro membros desde a infância, sem antecedentes relevantes. O exame neurológico mostrou déficit motor discreto proximal e distal com retração muscular leve ao nível de ombros, cotovelos, articulações coxo-femurais, joelhos e tornozelos; hipotrofia muscular nas pernas e pés: reflexos presentes e sensibilidade normal. Creatinofosfoquinase com aumento de uma vez e meia o valor normal. Eletroneuromiografia: diminuição de amplitude e duração dos potenciais de ação e traçado de interferência paradoxal, compatíveis com afecção muscular primária. Biópsia muscular em congelação (HE, Gomori, PAS, ATPases, NADH, SDH, fosfatases ácida e alcalina, citocromo-c-oxidase e Oil-red-O) revelou afecção muscular primária caracterizada pela presença de corpos nemalínicos e corpos intracitoplasmáticos esferóides. Os corpos nemalínicos podem ser encontrados com diferentes alterações das fibras musculares, porém essa associação é rara. Este é o segundo relato da associação entre corpos nemalínicos e esferóides.

Palavras-chave:miopatia nemalínica, corpos intracitoplasmáticos esferóides.


ABSTRACT

The authors report the case of a female patient, 18 years of age, with slowly progressing weakness in upper and lower limbs since childhood. There were no significant antecedents. The neurologic examination showed mild proximal and distal motor deficit with a slight muscular retraction at the level of shoulders, elbows, coxofemural joints, knees and ankles; muscular hypotrophy in the legs and feet; reflexes were present and sensitivity was normal. Creatinephosphokinase showed an increase of one and a half times the normal value. Electroneuromyography: decrease in the amplitude and duration of action potentials and excessive recruitment of motor units, compatible with a primary muscular disease. A muscle biopsy with frozen sections (HE, Gomori, PAS, ATPases, NADH, SDH, acid and alcaline phosphatases, cytochrome oxidase and Oil-red-o) revealed a primary muscular disease characterized by the presence of nemalinic and intracytoplasmic spheroid bodies. Nemalinic bodies have been described with different structural abnormalities of muscle fibers; however, such association is rare. This is the second case report of concomitant occurrence of nemalinic and spheroid bodies.

Key-words: nemalinic myopathy, intracytoplasmic spheroid bodies.


 

 

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Aceite: 11-outubro-1995

 

 

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