Ataxia-telangiectasia: registro de 4 casos

Brito, José C. de Farias; Silva, José A. Gonçalves da; Nobrega, Paulo V. da

doi:10.1590/S0004-282X1979000200006

Resumos

São relatados 4 casos de ataxia telangiectasia, analisando aspectos clínicos, imunológicos e radiológicos, em confronto com dados da literatura. Os autores justificam a publicação do trabalho pela raridade da doença e sua ocorrência em 3 irmãos no grupo estudado. Finalizam, lembrando a facilidade diagnostica, tendo por base o aparecimento precoce da ataxia e das manifestações cutâneo-vasculares.

The clinical, immunologic and radiologic aspects of 4 cases of ataxia telangiectasia are reported. Comparing with a large revision of literature, the authors justify the publication of the report by the scarse occurrence of the disease and by its incidency in 3 brothers of one same family.

Ataxia-telangiectasia: registro de 4 casos

Ataxia-telangiectasia: report of 4 cases

José C. de Farias Brito^I; José A. Gonçalves da Silva^II; Paulo V. da Nobrega^III

^IProfessor Colaborador. Centro de Ciências da Saúde da Universidade Federal da Paraíba

^IIProfessor de Clínica Neurocirúrgica. Centro de Ciências da Saúde da Universidade Federal da Paraíba

^IIINeurologista. Centro de Ciências da Saúde da Universidade Federal da Paraíba

RESUMO

São relatados 4 casos de ataxia telangiectasia, analisando aspectos clínicos, imunológicos e radiológicos, em confronto com dados da literatura. Os autores justificam a publicação do trabalho pela raridade da doença e sua ocorrência em 3 irmãos no grupo estudado. Finalizam, lembrando a facilidade diagnostica, tendo por base o aparecimento precoce da ataxia e das manifestações cutâneo-vasculares.

SUMMARY

The clinical, immunologic and radiologic aspects of 4 cases of ataxia telangiectasia are reported. Comparing with a large revision of literature, the authors justify the publication of the report by the scarse occurrence of the disease and by its incidency in 3 brothers of one same family.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Hospital São Vicente de Paulo - 580000 João Pessoa, PB - Brasil.

1. AGUILAR, M. J.; KAMOSHITA; LANDING, B. H. & BODER, E. - Pathological observations in ataxia telangiectasia. J. Neuropath, and Exp. Neurol. 27:659, 1968.
2. ALVARENGA, H. - Sindrome de Mme. Louis Bar (Ataxia-Telangiectasia). Tese, Rio de Janeiro, Brasil, 1976.
3. BODER, E. & SEGDWICK, R. P. - Ataxia telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21:526, 1958.
4. BODER, E. - Ataxia telangiectasia: some historic, clinical and pathological observations. Birth Defects 11:255, 1975.
5. BROWN, L. R.; COULAM, C. M. & REESE, D. F. - Ataxia telangiectasia (Louis Bar syndrome). Semin. Roenterol. 11:67, 1976.
6. BUCKLEY, R. H. - Bone marrow and thymus transplantation in ataxia telangiectasia. Birth Defects 11:421, 1975.
7. CHRISTODORESCU, D.; STEFANESCU, D.; OANCEA, C; MIHALACHE, N.; BERBESCU, C. & BALAITA, C. - Ataxia telangiectasia (Louis Bar syndrome), Rev-Roum Med. Neurol. Psychiat. 14:3, 1976.
8. CUNLIFFE, P. N.; MANN, R. J.; CAMERON, A. H. & ROBERTS, K. D. - Radiosensitivity in ataxia telangiectasia. Br. J. Radiol. 48:374, 1975.
9. DTJTATJ, G.: CORBERAND, J,; ABBAL, M. & ROCHICCIOLI, P. - Ataxia telangiectasia avec déficit immunitaire mixte et formes apparentées. J. Genet. Hum. 23:214, 1975.
10. FRANCIS, R. S.; VERMESS, M. & WALDMANN, T. A. - Ataxia telangiectasia. J. Can. Assoc. Radiol. 27:92, 1976.
11. GOLOMB, A. & SANDBANK, U. - Negri bodies in a case of ataxia telangiectasia. Archives of Neurology (Chicago) 33:306, 1976.
12. HYASHI, K. & SCHMID, W. - Tandem duplication ql4 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia. Humangenetik 30:135, 1975.
13. DE LEON, G. A.; GROVER, W. D. & HUFF, D. S. - Neuropathology changes in ataxia telangiectasia. Neurology (Minneapolis) 26:947, 1976.
14. McCAW, B. K.; HECHT, F.; HARNDEN, D. G. & TEPLIT2, R. L. - Somatic rearrangement of chromosome 14 in human lymphocytes. Proc. Natl. Sci. USA 72:2071,
15. McFARLIN, D. E.; STROBER, W. & WALDMANN, T. A. - Ataxia telangiectasia. Medicine 51:281, 1972.
16. McKUSICK, V. A. & CROSS, H. E. - Ataxia telangiectasia and swiss-type agamaglobulinemia: two genetic disorders of the immune mechanism in related amish sibships. JAMA 195:793, 1966.
17. McREYNOLDS, E. W.; DABBOUS, M. K.; HANISSIAN, A. S.; DUENAS, D. & KIMBRELL, R. - Abnormal collagen in ataxia telangiectasia. Am. J. Dis. Child. 130:305, 1976.
18. OLIVE, D.; GEHIN, A. M.; BOILLETOT, A.; GILGENKRANTZ, S.; VIGNERON, C; GBRBEAUX, J.; LE GALL, E.; RAFFOUX, S. & NEIMANN, N. - Complications néoplasiques de Tataxie telangiectasie. Arch. Fr. Pediatr. 32:292, 1975.
19. RAO, G. P.; VENU, K. & RAO, M. N. - Ataxia telangiectasia: a case report. Indian Pediatr. 13:565, 1976.
20. REED, W. B.; EPSTEIN, W. L.; BODER, E. & SEGDWICK, R. - Cutaneous manifestations of ataxia telangiectasia. JAMA 195:746, 1966.
21. SINGH, N.; SACHDEV, K. K.: MALAVIYA, A. N. & GREWAL, M. S. - Ataxia telangiectasia: a clinical genetic and electrophysiological study. Indian J. Med. Med. Res. 63:1259, 1975.
22. SWIFT, M. - Malignant disease in heterozygous carreirs. Birth Defects 12:133 1976.
23. TRUMAN, J. T.; RICHARDSON, E. P. & DVORAK, H. F. - Case records of the Massachussets General Hospital. N. Engl. J. Med. 292:1231, 1975.

Datas de Publicação

Publicação nesta coleção
24 Ago 2012
Data do Fascículo
Jun 1979

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

[1] 1. AGUILAR, M. J.; KAMOSHITA; LANDING, B. H. & BODER, E. - Pathological observations in ataxia telangiectasia. J. Neuropath, and Exp. Neurol. 27:659, 1968.

[2] 2. ALVARENGA, H. - Sindrome de Mme. Louis Bar (Ataxia-Telangiectasia). Tese, Rio de Janeiro, Brasil, 1976.

[3] 3. BODER, E. & SEGDWICK, R. P. - Ataxia telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21:526, 1958.

[4] 4. BODER, E. - Ataxia telangiectasia: some historic, clinical and pathological observations. Birth Defects 11:255, 1975.

[5] 5. BROWN, L. R.; COULAM, C. M. & REESE, D. F. - Ataxia telangiectasia (Louis Bar syndrome). Semin. Roenterol. 11:67, 1976.

[6] 6. BUCKLEY, R. H. - Bone marrow and thymus transplantation in ataxia telangiectasia. Birth Defects 11:421, 1975.

[7] 7. CHRISTODORESCU, D.; STEFANESCU, D.; OANCEA, C; MIHALACHE, N.; BERBESCU, C. & BALAITA, C. - Ataxia telangiectasia (Louis Bar syndrome), Rev-Roum Med. Neurol. Psychiat. 14:3, 1976.

[8] 8. CUNLIFFE, P. N.; MANN, R. J.; CAMERON, A. H. & ROBERTS, K. D. - Radiosensitivity in ataxia telangiectasia. Br. J. Radiol. 48:374, 1975.

[9] 9. DTJTATJ, G.: CORBERAND, J,; ABBAL, M. & ROCHICCIOLI, P. - Ataxia telangiectasia avec déficit immunitaire mixte et formes apparentées. J. Genet. Hum. 23:214, 1975.

[10] 10. FRANCIS, R. S.; VERMESS, M. & WALDMANN, T. A. - Ataxia telangiectasia. J. Can. Assoc. Radiol. 27:92, 1976.

[11] 11. GOLOMB, A. & SANDBANK, U. - Negri bodies in a case of ataxia telangiectasia. Archives of Neurology (Chicago) 33:306, 1976.

[12] 12. HYASHI, K. & SCHMID, W. - Tandem duplication ql4 and dicentric formation by end-to-end chromosome fusions in ataxia telangiectasia. Humangenetik 30:135, 1975.

[13] 13. DE LEON, G. A.; GROVER, W. D. & HUFF, D. S. - Neuropathology changes in ataxia telangiectasia. Neurology (Minneapolis) 26:947, 1976.

[14] 14. McCAW, B. K.; HECHT, F.; HARNDEN, D. G. & TEPLIT2, R. L. - Somatic rearrangement of chromosome 14 in human lymphocytes. Proc. Natl. Sci. USA 72:2071,

[15] 15. McFARLIN, D. E.; STROBER, W. & WALDMANN, T. A. - Ataxia telangiectasia. Medicine 51:281, 1972.

[16] 16. McKUSICK, V. A. & CROSS, H. E. - Ataxia telangiectasia and swiss-type agamaglobulinemia: two genetic disorders of the immune mechanism in related amish sibships. JAMA 195:793, 1966.

[17] 17. McREYNOLDS, E. W.; DABBOUS, M. K.; HANISSIAN, A. S.; DUENAS, D. & KIMBRELL, R. - Abnormal collagen in ataxia telangiectasia. Am. J. Dis. Child. 130:305, 1976.

[18] 18. OLIVE, D.; GEHIN, A. M.; BOILLETOT, A.; GILGENKRANTZ, S.; VIGNERON, C; GBRBEAUX, J.; LE GALL, E.; RAFFOUX, S. & NEIMANN, N. - Complications néoplasiques de Tataxie telangiectasie. Arch. Fr. Pediatr. 32:292, 1975.

[19] 19. RAO, G. P.; VENU, K. & RAO, M. N. - Ataxia telangiectasia: a case report. Indian Pediatr. 13:565, 1976.

[20] 20. REED, W. B.; EPSTEIN, W. L.; BODER, E. & SEGDWICK, R. - Cutaneous manifestations of ataxia telangiectasia. JAMA 195:746, 1966.

[21] 21. SINGH, N.; SACHDEV, K. K.: MALAVIYA, A. N. & GREWAL, M. S. - Ataxia telangiectasia: a clinical genetic and electrophysiological study. Indian J. Med. Med. Res. 63:1259, 1975.

[22] 22. SWIFT, M. - Malignant disease in heterozygous carreirs. Birth Defects 12:133 1976.

[23] 23. TRUMAN, J. T.; RICHARDSON, E. P. & DVORAK, H. F. - Case records of the Massachussets General Hospital. N. Engl. J. Med. 292:1231, 1975.