Doença de Werdnig-Hoffmann: relato de dois casos

Fortes-Rêgo, J.

doi:10.1590/S0004-282X1976000400011

Resumos

São relatados os casos de dois irmãos com atrofia muscular espinhal proximal. Após conceituar as doenças neuromusculares, o autor tece considerações sibre as diversas formas de atrofia muscular de origem medular e conclui pela evidência da síndrome de Werdnig-Hoffmann.

Two cases of familial spinal muscular atrophy with onset in infancy are reported. The author makes an attempt to categorize them and concludes by Werdnig-Hoffmann disease.

Doença de Werdnig-Hoffmann: relato de dois casos

Werdnig-Hoffmann disease: report of two cases

J. Fortes-Rêgo

Departamento de Medicina Especializada da Faculdade de Ciências da Saúde da Universidade de Brasília: Professor-Assistente

RESUMO

São relatados os casos de dois irmãos com atrofia muscular espinhal proximal. Após conceituar as doenças neuromusculares, o autor tece considerações sibre as diversas formas de atrofia muscular de origem medular e conclui pela evidência da síndrome de Werdnig-Hoffmann.

SUMMARY

Two cases of familial spinal muscular atrophy with onset in infancy are reported. The author makes an attempt to categorize them and concludes by Werdnig-Hoffmann disease.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Departamento de Medicina Especializada Faculdade de Ciências da Saúde 70000 Brasília, D.F. Brasil.

1. ABERFELD, D.C. & NAMBA, T. Progressive ophthalmoplegia in Kugelberg-Welander disease. Arch. Neurol. (Chicago) 20:253, 1969.
2. ALBERGA, R.; MARTINEZ-MATOS, J.A.; ALICONA, V.; MONTERO, C. & MIRANDA-NIEVES, G. Atrofia neurógena simuladora de la distrofia facio-escapulo-humeral. Arch. Neurobiol. (Madrid) 37:11, 1974.
3. BETHLEM, J.; WINJGAARDEN, G.K.; HUGO MEIJER, A.E.F. & HULSMANN, W.C. Neuromuscular disease with type I fiber atrophy, central nuclei and myotube-like structures. Neurology (Minneapolis) 19:705, 1969.
4. BRANDT, S. Course and symptoms of progressive infantile muscular atrophy. Arch. Neurol. Psychiat. (Chicago) 63:218, 1950.
5. BUCHTAL, F. & OLSEN, P.Z. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93:15, 1970.
6. DAHL, D.S. & PETERS, H.A. Lipid disturbances associated with spinal muscular atrophy. Arch. Neurol. (Chicago) 32:195, 1975.
7. DRACHMAN, D.B.; MURPHY, S.R.; NIGAM, M.P. & HILLS, J.R. Myopathic changes in chronically denervated muscle. Arch. Neurol. (Chicago) 16:14, 1967.
8. DUBOWITZ, V. Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain 87:707, 1964.
9. DUBOWITZ, V. Benign infantile spinal muscular atrophy. Develop. Med. Child. Neurol. 16:672, 1974.
10. EMERY, A.E.H. The nosology of the spinal muscular atrophies. J. Med. Genetics 8:481, 1971.
11. EMERY, A.E.H. Atrofie muscolari spinali. Recent Prog. Med. (Roma) 54: 262, 1973.
12. EMERY, A.E.H.; ANDERSON, A.R. & NORONHA, J.M. Electromyographic studies in parents of children with spinal muscular atrophy. J. Med. Genetics 10:8, 1973.
13. FRIED, K. & EMERY, A.E.H. Spinal muscular atrophy type II. Clinical Genetics 2:203, 1971.
14. KAESER, H.E. Scapuloperoneal muscular atrophy. Brain 88:407, 1965.
15. KENNEDY, W.R.; ALTER, M. & JUNG, J.H. Progressive proximal spinal and bulbar muscular atrophy of late onset. Neurology (Minneapolis) 18:671, 1968.
16. KUGELBERG, E. & WELANDER, L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch. Neurol. Psychiat. (Chicago) 75:500, 1956.
17. MEADOWS, J.C. & MARSDEN, C.D. A distal form of chronic spinal muscular atrophy. Neurology (Minneapolis) 19:53, 1969.
18. MELLINS, R.B.; HAYS, A.P.; GOLD, A.P.; BERDON, W.E. & BOWDLER, J.D. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53:33, 1974.
19. MOOSA, A. & DUBOWITZ, V. Spinal muscular atrophy in childhood. Arch. Dis. Childh. 48:386, 1973.
20. MUNSAT, T.L.; WOODS, R.; FOWLER, W. & PEARSON, C.M. Neurogenic muscular atrophy of infancy with prolonged survival. Brain 92:9, 1969.
21. NEVILLE, B.G.R. Diagnosis of childhood spinal muscular atrophy. Brit. Med. J. 4:236, 1973.
22. PAUNIER, L.; PAGNAMENTA, F.; MONNARD, E.; FELGENHAVER, W.R.; BEHAR, A. & MOODY, F.R. Spinal muscular atrophy with various clinical manifestations in a family. Helv. Paediat. Acta 28:19, 1973.
23. PEARN, J.H. Fetal movements and Werdnig-Hoffmann disease. J. Neurol. Sci. 18:373, 1973.
24. PEARN, J.H. & WILSON, J. Acute Werdnig-Hoffmann disease. Arch. Dis. Childh. 48:425, 1973.
25. PEARN, J.H. & WILSON, J. Chronic generalized spinal muscular atrophy of infancy and childhood. Arch. Dis. Childhood 48:768, 1973.
26. PEARN, J.H.; CARTER, C.O. & WILSON, J. The genetic identity of acute infantile spinal muscular atrophy. Brain 96:463, 1973.
27. TSUKAGOSHI, H.; NAKANISHI, T.; KONDO, K. & TSUBAKI, T. Hereditary proximal neurogenic muscular atrophy in adult. Arch. Neurol. (Chicago) 12: 597, 1965.
28. TSUKAGOSHI, H.; SHOJ, H. & FURUKAWA, T. Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Neurology (Minneapolis) 20:1188, 1970.
29. VINCENT, O. Valor de la biopsia muscular en las enfermedades neuro-musculares pediátricas. Arch. Pediat. Uruguay 37:235, 1966.
30. VINCENT, O.; MEDOC, J.; SCARABINO, R. & DEFFEMINIS, H. Consideraciones histopatológicas de las enfermedades neuromusculares pediátricas. Arch. Pediat. Uruguay 37:301, 1966.
31. WIJNGAARDEN, G.K. & BETHLEM, J. Benign infantile spinal muscular atrophy. Brain 96:163, 1973.
32. WOHLFART, G.; FEX, J. & ELIASSON, S. Hereditary proximal spinal muscular atrophy a clinical entity simulating progressive muscular dystrophy. Acta Psychiat. Neurol. Scandinavica 30:395, 1955.
33. ZELLWEGER, H.; SCHNEIDER, J.; SCHAULDT, D.R. & MERGNER, W. Heritable spinal muscular atrophies. Helv. Paediat. Acta 24:92, 1969.
34. ZELLWEGER, H.; SIMPSON, J.; McCORMIK, W.F. & IONASESCU, V. Spinal muscular atrophy with autosomal dominant inheritance. Neurology (Minneapolis) 22:957, 1972.

Datas de Publicação

Publicação nesta coleção
25 Fev 2013
Data do Fascículo
Dez 1976

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

[1] 1. ABERFELD, D.C. & NAMBA, T. Progressive ophthalmoplegia in Kugelberg-Welander disease. Arch. Neurol. (Chicago) 20:253, 1969.

[2] 2. ALBERGA, R.; MARTINEZ-MATOS, J.A.; ALICONA, V.; MONTERO, C. & MIRANDA-NIEVES, G. Atrofia neurógena simuladora de la distrofia facio-escapulo-humeral. Arch. Neurobiol. (Madrid) 37:11, 1974.

[3] 3. BETHLEM, J.; WINJGAARDEN, G.K.; HUGO MEIJER, A.E.F. & HULSMANN, W.C. Neuromuscular disease with type I fiber atrophy, central nuclei and myotube-like structures. Neurology (Minneapolis) 19:705, 1969.

[4] 4. BRANDT, S. Course and symptoms of progressive infantile muscular atrophy. Arch. Neurol. Psychiat. (Chicago) 63:218, 1950.

[5] 5. BUCHTAL, F. & OLSEN, P.Z. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93:15, 1970.

[6] 6. DAHL, D.S. & PETERS, H.A. Lipid disturbances associated with spinal muscular atrophy. Arch. Neurol. (Chicago) 32:195, 1975.

[7] 7. DRACHMAN, D.B.; MURPHY, S.R.; NIGAM, M.P. & HILLS, J.R. Myopathic changes in chronically denervated muscle. Arch. Neurol. (Chicago) 16:14, 1967.

[8] 8. DUBOWITZ, V. Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain 87:707, 1964.

[9] 9. DUBOWITZ, V. Benign infantile spinal muscular atrophy. Develop. Med. Child. Neurol. 16:672, 1974.

[10] 10. EMERY, A.E.H. The nosology of the spinal muscular atrophies. J. Med. Genetics 8:481, 1971.

[11] 11. EMERY, A.E.H. Atrofie muscolari spinali. Recent Prog. Med. (Roma) 54: 262, 1973.

[12] 12. EMERY, A.E.H.; ANDERSON, A.R. & NORONHA, J.M. Electromyographic studies in parents of children with spinal muscular atrophy. J. Med. Genetics 10:8, 1973.

[13] 13. FRIED, K. & EMERY, A.E.H. Spinal muscular atrophy type II. Clinical Genetics 2:203, 1971.

[14] 14. KAESER, H.E. Scapuloperoneal muscular atrophy. Brain 88:407, 1965.

[15] 15. KENNEDY, W.R.; ALTER, M. & JUNG, J.H. Progressive proximal spinal and bulbar muscular atrophy of late onset. Neurology (Minneapolis) 18:671, 1968.

[16] 16. KUGELBERG, E. & WELANDER, L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch. Neurol. Psychiat. (Chicago) 75:500, 1956.

[17] 17. MEADOWS, J.C. & MARSDEN, C.D. A distal form of chronic spinal muscular atrophy. Neurology (Minneapolis) 19:53, 1969.

[18] 18. MELLINS, R.B.; HAYS, A.P.; GOLD, A.P.; BERDON, W.E. & BOWDLER, J.D. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 53:33, 1974.

[19] 19. MOOSA, A. & DUBOWITZ, V. Spinal muscular atrophy in childhood. Arch. Dis. Childh. 48:386, 1973.

[20] 20. MUNSAT, T.L.; WOODS, R.; FOWLER, W. & PEARSON, C.M. Neurogenic muscular atrophy of infancy with prolonged survival. Brain 92:9, 1969.

[21] 21. NEVILLE, B.G.R. Diagnosis of childhood spinal muscular atrophy. Brit. Med. J. 4:236, 1973.

[22] 22. PAUNIER, L.; PAGNAMENTA, F.; MONNARD, E.; FELGENHAVER, W.R.; BEHAR, A. & MOODY, F.R. Spinal muscular atrophy with various clinical manifestations in a family. Helv. Paediat. Acta 28:19, 1973.

[23] 23. PEARN, J.H. Fetal movements and Werdnig-Hoffmann disease. J. Neurol. Sci. 18:373, 1973.

[24] 24. PEARN, J.H. & WILSON, J. Acute Werdnig-Hoffmann disease. Arch. Dis. Childh. 48:425, 1973.

[25] 25. PEARN, J.H. & WILSON, J. Chronic generalized spinal muscular atrophy of infancy and childhood. Arch. Dis. Childhood 48:768, 1973.

[26] 26. PEARN, J.H.; CARTER, C.O. & WILSON, J. The genetic identity of acute infantile spinal muscular atrophy. Brain 96:463, 1973.

[27] 27. TSUKAGOSHI, H.; NAKANISHI, T.; KONDO, K. & TSUBAKI, T. Hereditary proximal neurogenic muscular atrophy in adult. Arch. Neurol. (Chicago) 12: 597, 1965.

[28] 28. TSUKAGOSHI, H.; SHOJ, H. & FURUKAWA, T. Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Neurology (Minneapolis) 20:1188, 1970.

[29] 29. VINCENT, O. Valor de la biopsia muscular en las enfermedades neuro-musculares pediátricas. Arch. Pediat. Uruguay 37:235, 1966.

[30] 30. VINCENT, O.; MEDOC, J.; SCARABINO, R. & DEFFEMINIS, H. Consideraciones histopatológicas de las enfermedades neuromusculares pediátricas. Arch. Pediat. Uruguay 37:301, 1966.

[31] 31. WIJNGAARDEN, G.K. & BETHLEM, J. Benign infantile spinal muscular atrophy. Brain 96:163, 1973.

[32] 32. WOHLFART, G.; FEX, J. & ELIASSON, S. Hereditary proximal spinal muscular atrophy a clinical entity simulating progressive muscular dystrophy. Acta Psychiat. Neurol. Scandinavica 30:395, 1955.

[33] 33. ZELLWEGER, H.; SCHNEIDER, J.; SCHAULDT, D.R. & MERGNER, W. Heritable spinal muscular atrophies. Helv. Paediat. Acta 24:92, 1969.

[34] 34. ZELLWEGER, H.; SIMPSON, J.; McCORMIK, W.F. & IONASESCU, V. Spinal muscular atrophy with autosomal dominant inheritance. Neurology (Minneapolis) 22:957, 1972.