Ataxia-telangiectasia

Ferreira, Nelson Pires

doi:10.1590/S0004-282X1966000300009

Resumos

São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico. O autor resume os achados de diversos autores e chama a atenção para a regressão parcial da síndrome cerebelar em ambos os pacientes, fato ainda não referido na literatura.

The cases of two brothers with ataxia-telangiectasia studied under the clinical, electroencephalographic and pneumoencephalographic points of view are reported. The author summarizes the findings of several authors and calls attention to the partial regression of the cerebellar syndrome in both patients, a fact not yet recorded in the literature.

Ataxia-telangiectasia

Nelson Pires Ferreira

Assistente do Instituto de Neurocirurgia de Pôrto Alegre (Prof. Elyseu Paglioli); Assistente de Neurologia na Faculdade Católica de Medicina de Pôrto Alegre (Prof. Celso de Aquino)

RESUMO

São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico. O autor resume os achados de diversos autores e chama a atenção para a regressão parcial da síndrome cerebelar em ambos os pacientes, fato ainda não referido na literatura.

ABSTRACT

The cases of two brothers with ataxia-telangiectasia studied under the clinical, electroencephalographic and pneumoencephalographic points of view are reported. The author summarizes the findings of several authors and calls attention to the partial regression of the cerebellar syndrome in both patients, a fact not yet recorded in the literature.

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6. FRANCOIS, J. .& NEETENS, A. - Cit. por SCHMIDT e col.¹⁸.

9. LAMY, M.; SAMMET, M. L.; MARTIN, L. .& DEJOULX, B. - Cit. por MARTIN¹⁰.

12. OSETOWSKA, E. & TRACZYNSKA, H. - Cit. por MARTIN ¹⁰.

13. PELC, S. & VIS, H. - Cit. por MARTIN ¹⁰.

17. ROBINSON, A. - Cit. por MILLER e col. ¹¹.

Av. Independência 640, apt. 63 - Pôrto Alegre, Rio Grande do Sul - Brasil

1. BODER, E. & SEDGWICK - Ataxia-telangiectasia, a review of 101 cases. In Cerebellum, Posture and Cerebral Palsy. Little Club Clinics in Developmental Medicine nş 8:110-118, 1963.
2. BOWDEN, D. H.; DANIN, P. G. & SOMMERS, S. C. - Ataxia-telangiectasia. J. Neuropath, a. exp. Neurol. 22:549-554, 1963.
3. CASTAIGNE, P.; CAMBIER, J.; PAILLERET, F. & de JOS, J. - À propos de deux observations du syndrome ataxia-télangiectasie dans la même famille. Rev. Neurol. 105:503-505, 1961.
4. FIREMAN, P.; BOESMAN, M. & GITHIN, D. - Ataxia-telangiectasia. A dygammaglobulinaemia with deficient gama I A (B2 A) globulin. Lancet 1:1193-1195, 1964.
5. FORD, F. R. - Diseases of the Nervous System in Infancy, Childhood and Adolescence. Fourth ed., Charles Thomas, Springfield (Illinois), 1960.
7. GUTMANN, L. & MADISON, L. L. - Ataxia-telangiectasia associated with hypogammaglobulinaemia. Arch. Neurol. 8:318-327, 1963.
8. KOREIN, J.; STEIMAN, P. A. .& SEUZ, E. H. - Ataxia-telangiectasia. Arch. Neurol. 4:272-280, 1961.
10. MARTIN, L. - Aspect choréoathétosique du syndrome d'ataxie-télangiectasie. Acta Neurol. et Psychiat. Belg. 64:802-819, 1964.
11. MILLER, S. J. H. & GOODDY, W. - Madame Louis-Bar' syndrome; a case record, with comments upon the name, classification and significance of this disorder. Brain 87:580-588, 1964.
14. PETERSON, R. D. A.; KELLY, W. D. & GOOD, R. A. - Ataxia-telangiectasia. Lancet 1: 1189-1193, 1964.
15. REBOLLO, M. A. - Ataxia-telangiectasia. Acta Neurol. Latinoamer. 7:331-336, 1961.
16. REYE, C. - Ataxia-telangiectasia. Am. J. Dis. Child. 99:328-241, 1960.
18. SCHMIDT, J.; TRIDON, P. & LAXENAIRE, M. - Ataxie-télangiectasies. Rev. Neurol. 106:34-42, 1962.
19. SEDGWICK, R. P. & BODER, E. - Progressive ataxia in childhood with particular reference to ataxia-telangiectasia. Neurology 10:705-715, 1960.
20. TELLER, W. M. & MILLICHAP, J. G. - Ataxia-telangiectasia (Louis-Bar syndrome) with prominent sinopulmonary disease. J.A.M.A. 175:779-780, 1961.
21. THIEFFRY, St.; ARTHUIS, M.; AICARDI, J. & LYON, G. - L'ataxie-télangiectasie (7 observations personnelles). Rev. Neurol. 105:390-405, 1961.
22. WILLIAMS, H. E.; DEMIS, D. J. & HIDGON, R. S. - Ataxia-telangiectasia. A syndrome with caracteristics cutaneous manifestations. Arch. Dermatol. 82:937-942, 1960.

Datas de Publicação

Publicação nesta coleção
14 Ago 2013
Data do Fascículo
Set 1966

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

[1] 1. BODER, E. & SEDGWICK - Ataxia-telangiectasia, a review of 101 cases. In Cerebellum, Posture and Cerebral Palsy. Little Club Clinics in Developmental Medicine nş 8:110-118, 1963.

[2] 2. BOWDEN, D. H.; DANIN, P. G. & SOMMERS, S. C. - Ataxia-telangiectasia. J. Neuropath, a. exp. Neurol. 22:549-554, 1963.

[3] 3. CASTAIGNE, P.; CAMBIER, J.; PAILLERET, F. & de JOS, J. - À propos de deux observations du syndrome ataxia-télangiectasie dans la même famille. Rev. Neurol. 105:503-505, 1961.

[4] 4. FIREMAN, P.; BOESMAN, M. & GITHIN, D. - Ataxia-telangiectasia. A dygammaglobulinaemia with deficient gama I A (B2 A) globulin. Lancet 1:1193-1195, 1964.

[5] 5. FORD, F. R. - Diseases of the Nervous System in Infancy, Childhood and Adolescence. Fourth ed., Charles Thomas, Springfield (Illinois), 1960.

[6] 7. GUTMANN, L. & MADISON, L. L. - Ataxia-telangiectasia associated with hypogammaglobulinaemia. Arch. Neurol. 8:318-327, 1963.

[7] 8. KOREIN, J.; STEIMAN, P. A. .& SEUZ, E. H. - Ataxia-telangiectasia. Arch. Neurol. 4:272-280, 1961.

[8] 10. MARTIN, L. - Aspect choréoathétosique du syndrome d'ataxie-télangiectasie. Acta Neurol. et Psychiat. Belg. 64:802-819, 1964.

[9] 11. MILLER, S. J. H. & GOODDY, W. - Madame Louis-Bar' syndrome; a case record, with comments upon the name, classification and significance of this disorder. Brain 87:580-588, 1964.

[10] 14. PETERSON, R. D. A.; KELLY, W. D. & GOOD, R. A. - Ataxia-telangiectasia. Lancet 1: 1189-1193, 1964.

[11] 15. REBOLLO, M. A. - Ataxia-telangiectasia. Acta Neurol. Latinoamer. 7:331-336, 1961.

[12] 16. REYE, C. - Ataxia-telangiectasia. Am. J. Dis. Child. 99:328-241, 1960.

[13] 18. SCHMIDT, J.; TRIDON, P. & LAXENAIRE, M. - Ataxie-télangiectasies. Rev. Neurol. 106:34-42, 1962.

[14] 19. SEDGWICK, R. P. & BODER, E. - Progressive ataxia in childhood with particular reference to ataxia-telangiectasia. Neurology 10:705-715, 1960.

[15] 20. TELLER, W. M. & MILLICHAP, J. G. - Ataxia-telangiectasia (Louis-Bar syndrome) with prominent sinopulmonary disease. J.A.M.A. 175:779-780, 1961.

[16] 21. THIEFFRY, St.; ARTHUIS, M.; AICARDI, J. & LYON, G. - L'ataxie-télangiectasie (7 observations personnelles). Rev. Neurol. 105:390-405, 1961.

[17] 22. WILLIAMS, H. E.; DEMIS, D. J. & HIDGON, R. S. - Ataxia-telangiectasia. A syndrome with caracteristics cutaneous manifestations. Arch. Dermatol. 82:937-942, 1960.