Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso

Azevedo, Helga C. A.; Carvalho, Mary S.; Nagahashi -Marie, Sueli K.; Delgado, Martha N. S.; Siqueira-Carvalho, Alzira A.; Salum, Paulo N. B.; Levy, José A.

doi:10.1590/S0004-282X1996000100019

Resumos

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.

miopatia nemalínica; corpos intracitoplasmáticos esferóides

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.

nemalinic myopathy; intracytoplasmic spheroid bodies

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso

Nemalinic myopathy with intracytoplasmic spheroid bodies: case report

Helga C. A. Azevedo^I; Mary S. Carvalho^II; Sueli K. Nagahashi -Marie^III; Martha N. S. Delgado^I; Alzira A. Siqueira-Carvalho^I; Paulo N. B. Salum^III; José A. Levy^IV

^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

Clínica Neurológica do Hospital das Clínicas da Universidade de São Paulo.

Dra. Helga Cristina Almeida Azevedo - Avenida 11 de Junho 911 apto 811 - 04041-053 São Paulo SP - Brasil.

1. Afifi AK, Smith JW, Zellweger H. Congenital nonprogressive myopathy: central core disease and nemaline myopathy in one family. Neurology 196S; 15:371-381.
2. Banker BQ, Engel AG. Basic reactions of muscle. In Engel AG, Franzini-Armstrong C, (eds). Myology New York: McGraw-Hill 1994; 832-880.
3. Bethlem J, Arts WF, Dingemans KP. Common origin of rods, cores, miniature cores and focal loss of cross-striations. Arch Neurol 1978; 35:555-566.
4. Bodensteiner JB. Congenital myopathies. Muscle Nerve 1994; 17:131-144.
5. Cullen MF, Johnson MA, Mastaglia FL. Pathological reactions of skeletal muscle. In Mastaglia FL, Detchant W (eds). Skeletal muscle pathology. Edinburg: Churchill Livingstone, 1992:123-184.
6. Dalakas MC. Retrovirus related muscle disease. In Engel AG, Franzini-Armstrong C (eds). Myology. New York: McGraw-Hill 1994;1419-1437.
7. Dalakas MC, Pezeshkpour GH. Neuromuscular diseases asociated with human immunodeficiency virus infection. Ann Neurol 1988; 23 (Suppl): S38-S48.
8. Engel AG. Late onset rod myopathy ( a new syndrome ?) : light and electron microscopic observations in two cases. Mayo Clin Proc 1966; 41:713-741.
9. Engel AG, Banker BQ. Ultrastructural changes in diseased muscle. In Engel AG, Franzini-Armstrong C (eds). Myology. New York: McGraw-Hill, 1994; 889-1017.
10. Fardeau M. Congenital myopathies. In Mastaglia FL, Detchant W (eds). Skeletal muscle pathology. Edinburgh: Churchill Livingstone, 1992: 237-281.
11. Fardeau M, Tome FMS. Congenital myopathies. In Engel AG, Franzini-Armstrong C (eds). Myology, New York: McGraw-Hill, 1994; 1487-1532.
12. Fukunaga H, Osame M, Igata A. A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. J Neurol Sci 1980; 46:169-177.
13. Goebel HH, Lenard HG. Congenital myopathies. In Vinken PJ, Bruyn GW, Klawans HL (eds). Handbook of clinical neurology, Vol 62: Myopathies. Amsterdam: Elsevier 1992; 331-368.
14. Goebel HH, Muller J, Gillen HW, Merritt AD. Autosomal dominant "spheroid body myopathy". Muscle Nerve 1978; 1:14-26.
15. Halbig L, Goebell HH, Hopf HC, Moll R. Spheroid-cytoplasmic complexes in a congenital myopathy. Rev Neurol (Paris) 1991; 147:300-307.
16. Hopkins IJ, Lindsey JR, Ford FR. Nemaline myopathy: a long term clinicopathologic study of affected mother and daughter. Brain 1966; 89:299-310.
17. Martinez BA, Lake BD. Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 1987; 29:815-820.
18. Nonaka I. [Atlas de morfologia muscular para clínicos]. Tokyo: Niporindish-Kosha, 1993: 90.
19. Paulus W, Peiffer J, Becker I, Roggendorf W, Schumm F. Adult-onset rod disease with abundant intranuclear rods. J Neurol 1988; 235:343-347.
20. Schimomura C, Nonaka I. Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol 1989; 5:25-31.
21. Simpson DM, Bender AN. Human immunodeficiency virus associated myopathy: analysis of 11 patients. Ann Neurol 1988; 24:79-84.
22. Shy GM, Engel WK, Sommers JE, Wanko T. Nemaline myopathy: a new congenital myopathy. Brain 1963; 86:793-810.

Datas de Publicação

Publicação nesta coleção
07 Dez 2010
Data do Fascículo
Mar 1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Afifi AK, Smith JW, Zellweger H. Congenital nonprogressive myopathy: central core disease and nemaline myopathy in one family. Neurology 196S; 15:371-381.

[2] 2. Banker BQ, Engel AG. Basic reactions of muscle. In Engel AG, Franzini-Armstrong C, (eds). Myology New York: McGraw-Hill 1994; 832-880.

[3] 3. Bethlem J, Arts WF, Dingemans KP. Common origin of rods, cores, miniature cores and focal loss of cross-striations. Arch Neurol 1978; 35:555-566.

[4] 4. Bodensteiner JB. Congenital myopathies. Muscle Nerve 1994; 17:131-144.

[5] 5. Cullen MF, Johnson MA, Mastaglia FL. Pathological reactions of skeletal muscle. In Mastaglia FL, Detchant W (eds). Skeletal muscle pathology. Edinburg: Churchill Livingstone, 1992:123-184.

[6] 6. Dalakas MC. Retrovirus related muscle disease. In Engel AG, Franzini-Armstrong C (eds). Myology. New York: McGraw-Hill 1994;1419-1437.

[7] 7. Dalakas MC, Pezeshkpour GH. Neuromuscular diseases asociated with human immunodeficiency virus infection. Ann Neurol 1988; 23 (Suppl): S38-S48.

[8] 8. Engel AG. Late onset rod myopathy ( a new syndrome ?) : light and electron microscopic observations in two cases. Mayo Clin Proc 1966; 41:713-741.

[9] 9. Engel AG, Banker BQ. Ultrastructural changes in diseased muscle. In Engel AG, Franzini-Armstrong C (eds). Myology. New York: McGraw-Hill, 1994; 889-1017.

[10] 10. Fardeau M. Congenital myopathies. In Mastaglia FL, Detchant W (eds). Skeletal muscle pathology. Edinburgh: Churchill Livingstone, 1992: 237-281.

[11] 11. Fardeau M, Tome FMS. Congenital myopathies. In Engel AG, Franzini-Armstrong C (eds). Myology, New York: McGraw-Hill, 1994; 1487-1532.

[12] 12. Fukunaga H, Osame M, Igata A. A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. J Neurol Sci 1980; 46:169-177.

[13] 13. Goebel HH, Lenard HG. Congenital myopathies. In Vinken PJ, Bruyn GW, Klawans HL (eds). Handbook of clinical neurology, Vol 62: Myopathies. Amsterdam: Elsevier 1992; 331-368.

[14] 14. Goebel HH, Muller J, Gillen HW, Merritt AD. Autosomal dominant "spheroid body myopathy". Muscle Nerve 1978; 1:14-26.

[15] 15. Halbig L, Goebell HH, Hopf HC, Moll R. Spheroid-cytoplasmic complexes in a congenital myopathy. Rev Neurol (Paris) 1991; 147:300-307.

[16] 16. Hopkins IJ, Lindsey JR, Ford FR. Nemaline myopathy: a long term clinicopathologic study of affected mother and daughter. Brain 1966; 89:299-310.

[17] 17. Martinez BA, Lake BD. Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 1987; 29:815-820.

[18] 18. Nonaka I. [Atlas de morfologia muscular para clínicos]. Tokyo: Niporindish-Kosha, 1993: 90.

[19] 19. Paulus W, Peiffer J, Becker I, Roggendorf W, Schumm F. Adult-onset rod disease with abundant intranuclear rods. J Neurol 1988; 235:343-347.

[20] 20. Schimomura C, Nonaka I. Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol 1989; 5:25-31.

[21] 21. Simpson DM, Bender AN. Human immunodeficiency virus associated myopathy: analysis of 11 patients. Ann Neurol 1988; 24:79-84.

[22] 22. Shy GM, Engel WK, Sommers JE, Wanko T. Nemaline myopathy: a new congenital myopathy. Brain 1963; 86:793-810.