Miopatia nemalinica: relato de um caso com estudo histoquimico e microscopia eletrônica

Werneck, Lineu Cesar; Silvado, Carlos Eduardo; Jamur, Maria Célia; Yacubian, Elza Marcia Targas; Salum, Paulo Nicolau Borsoi

doi:10.1590/S0004-282X1983000200010

Resumos

Relato do caso de criança do sexo masculino, com hipotonia e dificuldades de deglutição desde os primeiros dias de vida, necessitando gastrostomia permanente. Apresentava retardo no desenvolvimento motor. A eletromiografia sugeria envolvimento muscular primário e a biópsia muscular, processada a fresco, histoquímica e pela microscopia eletrônica, revelou corpos nemalínicos clássicos e deficiência de fibras do tipo II. São feitos comentários a respeito dos sintomas e formas clínicas, origem e patogenia dos corpos nemalínicos, sendo o caso relatado caracterizado como miopatia nemalínica do tipo congênito.

Report of a case of a male child, with hypotonia since birth, along with severe feeding dificulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.

Miopatia nemalinica: relato de um caso com estudo histoquimico e microscopia eletrônica

Nemaline myopathy: report of a case with histochemistry and electron microscopy studies

Lineu Cesar Werneck^I; Carlos Eduardo Silvado^II; Maria Célia Jamur^III; Elza Marcia Targas Yacubian^IV; Paulo Nicolau Borsoi Salum^V

^IProfessor assistente de Neurologia, UFP. Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)

^IINeurologista do Hospital das Clínicas da UFP. Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)

^IIIProfessor assistente de Citologia, UFP. Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)

^IVResidente de Neuropediatria, USP. Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)

^VMédico adido do Centro de Investigações em Neurologia, USP. Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP)

RESUMO

Relato do caso de criança do sexo masculino, com hipotonia e dificuldades de deglutição desde os primeiros dias de vida, necessitando gastrostomia permanente. Apresentava retardo no desenvolvimento motor. A eletromiografia sugeria envolvimento muscular primário e a biópsia muscular, processada a fresco, histoquímica e pela microscopia eletrônica, revelou corpos nemalínicos clássicos e deficiência de fibras do tipo II. São feitos comentários a respeito dos sintomas e formas clínicas, origem e patogenia dos corpos nemalínicos, sendo o caso relatado caracterizado como miopatia nemalínica do tipo congênito.

SUMMARY

Report of a case of a male child, with hypotonia since birth, along with severe feeding dificulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Trabalho realizado na Disciplina de Neurologia do Departamento de Clínica Médica e na de Citologia do Departamento de Morfologia da Universidade Federal do Paraná (UFP), em conjunto com o Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo (USP).

Disciplina de Neurologia, Hospital de Clínicas - Rua General Carneiro 180, 13º andar - 80000Curitiba, PR - Brasil.

1. BROOKE, M. H.; CARROLL, J. E. & RINGEL, S. P. - Congenital hypotonia revisited. Muscle & Nerve 2:84, 1979.
2. CONEN, P. E.; MURPHY, E. G. & DONOHUE, W. L. - Light and electron microscopic studies of «myogranules» in a child with hypotonia and muscle weakness. Canad. med. Ass. J. 89:983, 1963.
3. DAHL, D. S. & KLUTZOW, F. W. - Congenital rod disease. Further evidence of innervational abnormalities as the basis for the clinicopathological features. J. neurol. Sci. 23:371, 1974.
4. ENGEL, A. G - Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin. Proc. 41:713, 1966.
5. ENGEL, A. G. & GOMEZ, M. R. - Nemaline (Z disk) myopathy: observations on the origin, structure, and solubility properties of the nemaline structures. J Neuropath, exp. Neurol. 26:601, 1967.
6. ENGEL, W. K. & RESNICK, J. S. - Late-onset rod myopathy: A newly recognized acquired, and progressive disease. Neurol. (Minneapolis) 16:308, 1966.
7. ENGEL, W. L.; WANKO, T. & FENICHEL, G. M. - Nemaline myopathy. A second case. Arch. Neurol. (Chicago) 11:22, 1964.
8. FULTHORPE, J. J.; GARDNER-MEDWIN, D.; HUDGSON, P. & WALTON, J. N. - Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. Neurol. (Minneapolis) 19:735, 1969.
9. GONATAS, N. K. - The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z discs. J. Neuropathol. exp. Neurol. 25:409, 1966.
10. GONATAS, N. K.; SHY, G. M. & GODFREY, E. H. - Nemaline myopathy. The origin of nemaline structures. New England J, Med. 274:535, 1966.
11. HEFFERMAN, L. P.; REWCASTLE, N. B. & HUMPHREY, J. G. - The spectrum of rod myopathies. Arch. Neurol. (Chicago) 18:529, 1968.
12. HOPKINS, I. J.; LINDSEY, J. R. & FORD, F. R. - Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. Brain 89:299, 1966.
13. HUDSON, P.; GARDNER-MEDWIN, D.; FULTHORPE, J. J. & WALTON, J. N. - Nemaline myopathy. Neurol. (Minneapolis) 17:1125, 1967.
14. JENIS, E. H.; LINDQUIST, R. R. & LISTER, R. C. - New congenital myopathy with crystaline intranuclear inclusions. Arch. Neurol. (Chicago) 20:281, 1969.
15. KAMIENIECKA, Z. - Late onset myopathy with rod-like particles. Acta neurol. scand. 49:547, 1973.
16. KARPATI, G.; CARPENTER, S. & ANDERMANN, F. - A new concept of childhood nemaline myopathy. Arch. Neurol. (Chicago) 24:291, 1971.
17. KINOSHITA, M. & SATOYOSHI, E. - Type I fiber atrophy and nemaline bodies. Arch. Neurol. (Chicago) 31:423, 1974.
18. KONDO, K. & YUASA, T. - Genetics of congenital nemaline myopathy. Muscle & Nerve 3:308, 1980.
19. KUITUNEN, P.; RAPOLA, J.; NOPONEN, A-L. & DONNER, M. - Nemaline myopathy. Report of four cases and review of the literature. Acta pediat. scand. 61:353, 1972.
20. KULAKOWSKI, S.; FLAMENT-DURAND, J.; LAGAE-MALAISSE, F.; CHEVALLAY, M. & FARDEAU, M. - Myopathy a batonnets (nemaline myopathy). Arch, franc. Péd. 30:505, 1973.
21. POWERS, J. M.; YOUNG, G. F.; BASS, E. B. & REED, F. E. - Atypical nemaline myopathy with temporomandibular ankylosis. Neurol. (Minneapolis) 30:971, 1975.
22. RADU, H. & IONESCU, V. - Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation. J. neurol. Sci. 17:53, 1972.
23. ROBERTSON, W. C; KAWAMURA, Y. & DKCK, P. J. - Morphometric study of motoneurons in congenital nemalina myopathy and Werdnig-Hoffmann disease. Neurol. (Minneapolis) 28:1057, 1978.
24. SHAFIQ, S. A.; DUBOWITZ, V.; PETERSON, H. C. & MILHORAT, A. T. - Nemaline myopathy: report of a fatal case with histochemical and electron microscopic studies. Brain 90:817, 1967.
25. SHAFIW, S. A.; GORYCKI, M. A.; ASIEDU, S. A. & MILHORAT, A. T. - Tenotomy. Effect on the fine structure of the soleus of the rat. Arch. Neurol. (Chicago) 20:625, 1969.
26. SHY, G. N.; ENGEL, W. K.; SOMERS, J. E. & WANKO, T. - Nemaline myopathy. A new congenital myopathy. Brain 86:793, 1963.
27. SRETER, F. A.; ASTRÕM, K-E.; ROMANUL, F. C. A.; YOUNG, R. R. & JONES, R. - Characteristics of myosin in nemaline myopathy. J. neurol. Sci. 27:99, 1976.
28. WERNECK, L. C. - O valor da biópsia muscular em Neurologia: análise de 290 exames a fresco e pela histoquímica. Rev. bras. Clin. Terap. 10: edição especial, março, 1981.

Datas de Publicação

Publicação nesta coleção
14 Ago 2012
Data do Fascículo
Jun 1983

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

[1] 1. BROOKE, M. H.; CARROLL, J. E. & RINGEL, S. P. - Congenital hypotonia revisited. Muscle & Nerve 2:84, 1979.

[2] 2. CONEN, P. E.; MURPHY, E. G. & DONOHUE, W. L. - Light and electron microscopic studies of «myogranules» in a child with hypotonia and muscle weakness. Canad. med. Ass. J. 89:983, 1963.

[3] 3. DAHL, D. S. & KLUTZOW, F. W. - Congenital rod disease. Further evidence of innervational abnormalities as the basis for the clinicopathological features. J. neurol. Sci. 23:371, 1974.

[4] 4. ENGEL, A. G - Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin. Proc. 41:713, 1966.

[5] 5. ENGEL, A. G. & GOMEZ, M. R. - Nemaline (Z disk) myopathy: observations on the origin, structure, and solubility properties of the nemaline structures. J Neuropath, exp. Neurol. 26:601, 1967.

[6] 6. ENGEL, W. K. & RESNICK, J. S. - Late-onset rod myopathy: A newly recognized acquired, and progressive disease. Neurol. (Minneapolis) 16:308, 1966.

[7] 7. ENGEL, W. L.; WANKO, T. & FENICHEL, G. M. - Nemaline myopathy. A second case. Arch. Neurol. (Chicago) 11:22, 1964.

[8] 8. FULTHORPE, J. J.; GARDNER-MEDWIN, D.; HUDGSON, P. & WALTON, J. N. - Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. Neurol. (Minneapolis) 19:735, 1969.

[9] 9. GONATAS, N. K. - The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z discs. J. Neuropathol. exp. Neurol. 25:409, 1966.

[10] 10. GONATAS, N. K.; SHY, G. M. & GODFREY, E. H. - Nemaline myopathy. The origin of nemaline structures. New England J, Med. 274:535, 1966.

[11] 11. HEFFERMAN, L. P.; REWCASTLE, N. B. & HUMPHREY, J. G. - The spectrum of rod myopathies. Arch. Neurol. (Chicago) 18:529, 1968.

[12] 12. HOPKINS, I. J.; LINDSEY, J. R. & FORD, F. R. - Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. Brain 89:299, 1966.

[13] 13. HUDSON, P.; GARDNER-MEDWIN, D.; FULTHORPE, J. J. & WALTON, J. N. - Nemaline myopathy. Neurol. (Minneapolis) 17:1125, 1967.

[14] 14. JENIS, E. H.; LINDQUIST, R. R. & LISTER, R. C. - New congenital myopathy with crystaline intranuclear inclusions. Arch. Neurol. (Chicago) 20:281, 1969.

[15] 15. KAMIENIECKA, Z. - Late onset myopathy with rod-like particles. Acta neurol. scand. 49:547, 1973.

[16] 16. KARPATI, G.; CARPENTER, S. & ANDERMANN, F. - A new concept of childhood nemaline myopathy. Arch. Neurol. (Chicago) 24:291, 1971.

[17] 17. KINOSHITA, M. & SATOYOSHI, E. - Type I fiber atrophy and nemaline bodies. Arch. Neurol. (Chicago) 31:423, 1974.

[18] 18. KONDO, K. & YUASA, T. - Genetics of congenital nemaline myopathy. Muscle & Nerve 3:308, 1980.

[19] 19. KUITUNEN, P.; RAPOLA, J.; NOPONEN, A-L. & DONNER, M. - Nemaline myopathy. Report of four cases and review of the literature. Acta pediat. scand. 61:353, 1972.

[20] 20. KULAKOWSKI, S.; FLAMENT-DURAND, J.; LAGAE-MALAISSE, F.; CHEVALLAY, M. & FARDEAU, M. - Myopathy a batonnets (nemaline myopathy). Arch, franc. Péd. 30:505, 1973.

[21] 21. POWERS, J. M.; YOUNG, G. F.; BASS, E. B. & REED, F. E. - Atypical nemaline myopathy with temporomandibular ankylosis. Neurol. (Minneapolis) 30:971, 1975.

[22] 22. RADU, H. & IONESCU, V. - Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation. J. neurol. Sci. 17:53, 1972.

[23] 23. ROBERTSON, W. C; KAWAMURA, Y. & DKCK, P. J. - Morphometric study of motoneurons in congenital nemalina myopathy and Werdnig-Hoffmann disease. Neurol. (Minneapolis) 28:1057, 1978.

[24] 24. SHAFIQ, S. A.; DUBOWITZ, V.; PETERSON, H. C. & MILHORAT, A. T. - Nemaline myopathy: report of a fatal case with histochemical and electron microscopic studies. Brain 90:817, 1967.

[25] 25. SHAFIW, S. A.; GORYCKI, M. A.; ASIEDU, S. A. & MILHORAT, A. T. - Tenotomy. Effect on the fine structure of the soleus of the rat. Arch. Neurol. (Chicago) 20:625, 1969.

[26] 26. SHY, G. N.; ENGEL, W. K.; SOMERS, J. E. & WANKO, T. - Nemaline myopathy. A new congenital myopathy. Brain 86:793, 1963.

[27] 27. SRETER, F. A.; ASTRÕM, K-E.; ROMANUL, F. C. A.; YOUNG, R. R. & JONES, R. - Characteristics of myosin in nemaline myopathy. J. neurol. Sci. 27:99, 1976.

[28] 28. WERNECK, L. C. - O valor da biópsia muscular em Neurologia: análise de 290 exames a fresco e pela histoquímica. Rev. bras. Clin. Terap. 10: edição especial, março, 1981.