Miastenia grave familiar: relato de caso em gêmeas idênticas

Dias-Tosta, Elza; Aguiar, Maria de Fátima Machado; Barbosa, Hamilton; Vilela, Suzete Silva Leme

doi:10.1590/S0004-282X1989000200019

Resumos

Trata-se do sétimo relato da literatura mundial de casos de miastenia gravis em gêmeos homozigóticos em que ambos são acometidos. O homozigotismo foi provado com certeza por estudo de HLA e a forma adquirida da doença foi provada por determinação de níveis elevados de anticorpos anti-receptor de acetilcolina, havendo também níveis elevados de anticorpos antimúsculo estriado, sem outras evidências de timoma.

To the best of our knowledge this is the seventh case report of monozygotic twins both affected by myasthenia gravis (MG). The monozygotism was proven by sex identity, blood group and HLA determinations ('O' Rh +, A2, A19.2, B40, CW3). One paternal aunt was also affected and the three cases have high titles of anti-acetylcholine receptor antibodies and anti-striated muscle antibodies, which indicate an acquired form of MG. After several myasthenic crises the twins are now doing well with corticosteroid therapy. The paternal aunt has a more benign form of MG, with ocular and limb involvement (grade IIa of Osserman) and was submitted to thymectomy. The authors discuss the use of corticosteroid for the infantile form of MG instead of thymectomy, based on the immaturity of the immune system in the young age. The use of other immunosupressive drugs is not advisable because of potential hazardous development of neoplasms.

Miastenia grave familiar: relato de caso em gêmeas idênticas

Familial myasthenia gravis: case report in identical twins

Elza Dias-Tosta^I; Maria de Fátima Machado Aguiar^II; Hamilton Barbosa^II; Suzete Silva Leme Vilela^II

^INeurologista do Hospital de Base do Distrito Federal (HBDF), PhD

^IINeurologista da Unidade de Pediatria do HBDF

RESUMO

Trata-se do sétimo relato da literatura mundial de casos de miastenia gravis em gêmeos homozigóticos em que ambos são acometidos. O homozigotismo foi provado com certeza por estudo de HLA e a forma adquirida da doença foi provada por determinação de níveis elevados de anticorpos anti-receptor de acetilcolina, havendo também níveis elevados de anticorpos antimúsculo estriado, sem outras evidências de timoma.

SUMMARY

To the best of our knowledge this is the seventh case report of monozygotic twins both affected by myasthenia gravis (MG). The monozygotism was proven by sex identity, blood group and HLA determinations ('O' Rh +, A2, A19.2, B40, CW3). One paternal aunt was also affected and the three cases have high titles of anti-acetylcholine receptor antibodies and anti-striated muscle antibodies, which indicate an acquired form of MG. After several myasthenic crises the twins are now doing well with corticosteroid therapy. The paternal aunt has a more benign form of MG, with ocular and limb involvement (grade IIa of Osserman) and was submitted to thymectomy. The authors discuss the use of corticosteroid for the infantile form of MG instead of thymectomy, based on the immaturity of the immune system in the young age. The use of other immunosupressive drugs is not advisable because of potential hazardous development of neoplasms.

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Agradecimentos- Dr. Ricardo Manoel Oliveira, do Laboratório de Investigação em Reumatologia do HC da USP, que dosou os anticorpos; Dr. Antônio Vilaça, que tipou o HLA (HDA, Brasília); Dra. Maria Helena Chagas responsável pelos estudos neurofisiológicos (HBDF, Brasília); Dr. Paulo Henrique Costa, que realizou os estudos histoquímicos (Hospital Sarah Kubitschek, Brasília).

Hospital de Base do Distrito Federal, Unidade de Pediatria - SMHS - Quadra 101 Bloco A - 70000 Brasília DF - Brasil.

1. Albers JW, Faulkner JA, Dorovini-Zis K, Barald KF Must RE, Ball RD - Abnormal neuromuscular transmission in an infantile myasthen c syndrome. Ann Neurol 16: 28, 1984.
2. Allen N, Kissel P, Pietrasink D, Perlow MJ - Myasthenia gravis in monozygotic twins. Arch Neurol 41: 994, 1984.
3. Assis LJ, Scaff M - Familial myasthenia gravis. Arq Neuro-Psiquiat (São Paulo) 34: 215, 1976.
4. Bjerre I, Hallberg A - Myasthenia gravis: immunological studies in a young child treated with thymectomy and immunosupressive drugs. Neuropediatrics 14: 106, 1983.
5. Cavanagh NPC - The role of thymectomy in childhood myasthenia. Develop Med Child Neurol 22: 668, 1980.
6. Christadoss P, Lennon VA, Krco CJ, David CS - Genetic control of experimental autoimmune myasthenia gravis in mice. J Immunol 128: 1141, 1982.
7. Dausset J, Pla M - HLA. Flamarion, Paris, 1985, pg 80.
8. Dick HM, Behan PO, Simpson JA, Durward WF - The inheritance of HLA antigens in myasthenia gravis. J Immunogenet 1: 401, 1974.
9. Engel AG - Myasthenia gravis and myasthenic syndromes. Ann Neurol 16: 519, 1984.
10. Freitas MRG, Gomes SEG, Cincinatus D, Garcia JMM, Nevares MTM, Hahn MD - Miastenia gravis familiar: registro de dois irmãos. Arq. Neuro-Psiquiat (São Paulo) 4 3: 81, 1985.
11. Glieron MA, Korthals JK - Familial infantile myasthenia gravis: report of three cases with follow-up until adult life. Arch Neurol 42: 143, 1985.
12. Harati Y, Niakan E, Bergman EW - Childhood dermatomyositis in monozygotic twins. Neurology 36: 721, 1986.
13. Honeybourne D, Dyer PA, Muhr PD - Familial myasthenia gravis. J Neurol Neurosurg Psychiat 45: 854, 1982.
14. Hrubeg Z, Robrinete CD - The study of human twins in medical research. N Engl J Med 310: 435, 1984.
15. McLean W, McKone R, Sclem W - Congenital myasthenia gravis in twins. Arch Neurol 29: 223, 1973.
16. Moore HJ, Woods EL - Myasthenia gravis: associated antibodies in asymptomatic thymoma. J Thorac Cardiovasc Surg 89: 308, 1985.
17. Mora M, Lambert EH, Engel AG - Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 37: 206, 1987.
18. Murphy J, Murphy SF - Myasthenia gravis in identical twins. Neurology 36:78, 1986.
19. Namba T, Brunner NG, Brown SB, Mugurama M, Grob D - Familial myasthenia gravis: report of 27 pacients in 12 families. Arch Neurol 25:49, 1971.
20. Roach SE, Buonn G, McLean WT Jr, Grey Weaver R Jr, Winstons-Sclem NC - Annual Meeting of the Child Neurology Society, 1985, pg 40.
21. Scadding GK, Thomas HC, Havard CWH - The immunological effects of thymectomy in myasthenia gravis. Clin Exper Immunol 36: 205, 1979.

Datas de Publicação

Publicação nesta coleção
07 Jun 2011
Data do Fascículo
Jun 1989

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

[1] 1. Albers JW, Faulkner JA, Dorovini-Zis K, Barald KF Must RE, Ball RD - Abnormal neuromuscular transmission in an infantile myasthen c syndrome. Ann Neurol 16: 28, 1984.

[2] 2. Allen N, Kissel P, Pietrasink D, Perlow MJ - Myasthenia gravis in monozygotic twins. Arch Neurol 41: 994, 1984.

[3] 3. Assis LJ, Scaff M - Familial myasthenia gravis. Arq Neuro-Psiquiat (São Paulo) 34: 215, 1976.

[4] 4. Bjerre I, Hallberg A - Myasthenia gravis: immunological studies in a young child treated with thymectomy and immunosupressive drugs. Neuropediatrics 14: 106, 1983.

[5] 5. Cavanagh NPC - The role of thymectomy in childhood myasthenia. Develop Med Child Neurol 22: 668, 1980.

[6] 6. Christadoss P, Lennon VA, Krco CJ, David CS - Genetic control of experimental autoimmune myasthenia gravis in mice. J Immunol 128: 1141, 1982.

[7] 7. Dausset J, Pla M - HLA. Flamarion, Paris, 1985, pg 80.

[8] 8. Dick HM, Behan PO, Simpson JA, Durward WF - The inheritance of HLA antigens in myasthenia gravis. J Immunogenet 1: 401, 1974.

[9] 9. Engel AG - Myasthenia gravis and myasthenic syndromes. Ann Neurol 16: 519, 1984.

[10] 10. Freitas MRG, Gomes SEG, Cincinatus D, Garcia JMM, Nevares MTM, Hahn MD - Miastenia gravis familiar: registro de dois irmãos. Arq. Neuro-Psiquiat (São Paulo) 4 3: 81, 1985.

[11] 11. Glieron MA, Korthals JK - Familial infantile myasthenia gravis: report of three cases with follow-up until adult life. Arch Neurol 42: 143, 1985.

[12] 12. Harati Y, Niakan E, Bergman EW - Childhood dermatomyositis in monozygotic twins. Neurology 36: 721, 1986.

[13] 13. Honeybourne D, Dyer PA, Muhr PD - Familial myasthenia gravis. J Neurol Neurosurg Psychiat 45: 854, 1982.

[14] 14. Hrubeg Z, Robrinete CD - The study of human twins in medical research. N Engl J Med 310: 435, 1984.

[15] 15. McLean W, McKone R, Sclem W - Congenital myasthenia gravis in twins. Arch Neurol 29: 223, 1973.

[16] 16. Moore HJ, Woods EL - Myasthenia gravis: associated antibodies in asymptomatic thymoma. J Thorac Cardiovasc Surg 89: 308, 1985.

[17] 17. Mora M, Lambert EH, Engel AG - Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 37: 206, 1987.

[18] 18. Murphy J, Murphy SF - Myasthenia gravis in identical twins. Neurology 36:78, 1986.

[19] 19. Namba T, Brunner NG, Brown SB, Mugurama M, Grob D - Familial myasthenia gravis: report of 27 pacients in 12 families. Arch Neurol 25:49, 1971.

[20] 20. Roach SE, Buonn G, McLean WT Jr, Grey Weaver R Jr, Winstons-Sclem NC - Annual Meeting of the Child Neurology Society, 1985, pg 40.

[21] 21. Scadding GK, Thomas HC, Havard CWH - The immunological effects of thymectomy in myasthenia gravis. Clin Exper Immunol 36: 205, 1979.