Doença de Tay-Sachs em criança de raça negra

Rosemberg, Sérgio; Lefèvre, Antônio B.

doi:10.1590/S0004-282X1970000400009

Resumos

É relatado um caso de doença de Tay-Sachs em criança da raça negra. O encontro desta entidade em indivíduos não judeus é bastante raro, sendo este o quinto caso descrito em criança negra. Os autores estudam alguns aspectos genéticos, chegando à conclusão de que o cálculo da freqüência do gene mutante é impossível devido ao pequeno número de casos e ao fato de que não há estimativas seguras quanto à taxa de nascimento de indivíduos negros na população, Em que pese o fato de o diagnóstico se assentar em bases puramente clínicas e anatômicas, prescindindo os autores de exames bioquímicos específicos, os dados apresentados são congruentes com os casos clássicos descritos na literatura.

A case of Tay-Sachs diseases in a Negro child is reported. The occurrence of this disease in non-Jewish individuals is very rare and this is the fifth case of a Negro-child reported in the litterature. Some genetical aspects are studied and the authors conclude that the frequency calculation of the mutant gene is impossible due to the small number of cases and to the fact that there is reliable information regarding the rate of birth of Negro individuals in the general population. The diagnosis was based on ophtalmological and clinical data. No specific biochemical tests were performed but the data obtained are congruent with other cases reported in the litterature.

Doença de Tay-Sachs em criança de raça negra

Tay-Sachs disease in a Negro child

Sérgio Rosemberg^I; Antônio B. Lefèvre^II

^IClínica Neurológica, Departamento de Neuropsiquiatria, Faculdade de Medicina, Universidade de São Paulo: Médico adido

^IIClínica Neurológica, Departamento de Neuropsiquiatria, Faculdade de Medicina, Universidade de São Paulo: Professor de Neuropediatria

RESUMO

É relatado um caso de doença de Tay-Sachs em criança da raça negra. O encontro desta entidade em indivíduos não judeus é bastante raro, sendo este o quinto caso descrito em criança negra. Os autores estudam alguns aspectos genéticos, chegando à conclusão de que o cálculo da freqüência do gene mutante é impossível devido ao pequeno número de casos e ao fato de que não há estimativas seguras quanto à taxa de nascimento de indivíduos negros na população, Em que pese o fato de o diagnóstico se assentar em bases puramente clínicas e anatômicas, prescindindo os autores de exames bioquímicos específicos, os dados apresentados são congruentes com os casos clássicos descritos na literatura.

SUMMARY

A case of Tay-Sachs diseases in a Negro child is reported. The occurrence of this disease in non-Jewish individuals is very rare and this is the fifth case of a Negro-child reported in the litterature. Some genetical aspects are studied and the authors conclude that the frequency calculation of the mutant gene is impossible due to the small number of cases and to the fact that there is reliable information regarding the rate of birth of Negro individuals in the general population. The diagnosis was based on ophtalmological and clinical data. No specific biochemical tests were performed but the data obtained are congruent with other cases reported in the litterature.

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Clínica Neurológica Faculdade de Medicina Universidade de São Paulo Caixa Postal 3461 São Paulo, SP Brasil.

1. ARONSON, S. M.; ARONSON, B. E. & VOLK B. W. A genetic profile of amaurotic family indiocy. Amer. J. Dis. Child. 98:50, 1959.
2. ARONSON, S. M.; LEWITAN. A.; RABINER, A. M.; EPSTEIN, N. & VOLK, B. W. The megalencephalic phise of infantile amaurotic familial idiocy. Arch. Neurol. Psychiat. 79:151, 1958.
3. ARONSON, S. M.; PERLE, G.; SEIFER, A. & VOLK, B. W. The biochemical identification of the carrier state in Tay-Sachs disease. Proc. Soc. Exper. Biol. Med. 3:664, 1962.
4. ARONSON, S. M.; VALSAMIS, M. P. & VOLK B. W. Infantile amaurotic family idiocy: occurrence, genetic considerations and pathophysiology in the non-jewish infant. Pediatrics 26:229, 1960.
5. ARONSON, S. M. & VOLK, B. W. Genetic and demographic considerations concerning Tay-Sachs disease. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 375.
6. ARONSON, S. M. & VOLK, B. W. The nervous system sphingolipidoses. In Charles H. Carter: Medical Aspects of Mental Retardation. Charles C. Thomas, Springfield, 1985. p. 684.
7. COOGAN, D. C. Neurology of the Visual System. Charles C. Thomas, Springfield, 1966, p. 92.
8. DUKE, J. R. & CLARK, D. B. Infantile amaurotic familial idiocy (Tay-Sachs disease) in the Negro race. Amer. J. Ophtal. 53:800, 1962.
9. FORD, F. R. Diseases of the Nervous System in Infancy, Childhood and Adolescente. Charles C. Thomas, Springfield, 1966, p. 728.
10. GONATAS, N. K. & GONATAS, J. Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. Exp. Neurol. 24:318, 1965.
11. KANOF, A.; ARONSON, S. M. & VOLK, B. W. Clinical progression of amaurotic family idiocy. Amer. J. Dis. Child. 97:656, 1959.
12. KNUDSON Jr., A. G. & KAPLAN, W. D. Genetics of the sphingolipidoses. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 395.
13. KOZINN, P. J.; WIENE, H. & COHEN, P. Infantile amaurotic family idiocy. J. Pediat. 51:581, 1957.
14. LANDING, B. H.; SILVERMAN, F. N.; CRAIG, J. M.; JACOBY, M. D.; LAKEY, M. E. & CHADWICK, D. L. Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108:503, 1964.
15. MYRIANTHOPOULOS, N. C. Some epidemiologic and genetic aspects of Tay-Sachs disease. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sph n-golipidoses. Academic Press, New York, 1962, p. 359.
16. SCHNECK, L. The early electroencephalographic and seizure characteristics of Tay-Sachs' disease. Acta neurol. scand. 41:163, 1965.
17. SPIEGEL-ADOLF, M.; BAIRD, H. W.; COLEMAN, H. S. & SZEKELY, E. G. Vacuolized blood lymphocytes in the lipidoses and other nervous system diseases with special reference to histochemical studies. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 129.
18. SUZUK., K. & CHEN, G. C. Brain ceramid hexosides in Tay-Sachs disease and generalized gangliosidosis (G_M1 gangliosidosis). J. Lipid Res. 8:105, 1967.
19. WALSH, F. B. Clinical Neurophthalmology. Williams and Wilkins, Baltimore, 1957, p. 1.

Datas de Publicação

Publicação nesta coleção
22 Abr 2013
Data do Fascículo
Dez 1970

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

[1] 1. ARONSON, S. M.; ARONSON, B. E. & VOLK B. W. A genetic profile of amaurotic family indiocy. Amer. J. Dis. Child. 98:50, 1959.

[2] 2. ARONSON, S. M.; LEWITAN. A.; RABINER, A. M.; EPSTEIN, N. & VOLK, B. W. The megalencephalic phise of infantile amaurotic familial idiocy. Arch. Neurol. Psychiat. 79:151, 1958.

[3] 3. ARONSON, S. M.; PERLE, G.; SEIFER, A. & VOLK, B. W. The biochemical identification of the carrier state in Tay-Sachs disease. Proc. Soc. Exper. Biol. Med. 3:664, 1962.

[4] 4. ARONSON, S. M.; VALSAMIS, M. P. & VOLK B. W. Infantile amaurotic family idiocy: occurrence, genetic considerations and pathophysiology in the non-jewish infant. Pediatrics 26:229, 1960.

[5] 5. ARONSON, S. M. & VOLK, B. W. Genetic and demographic considerations concerning Tay-Sachs disease. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 375.

[6] 6. ARONSON, S. M. & VOLK, B. W. The nervous system sphingolipidoses. In Charles H. Carter: Medical Aspects of Mental Retardation. Charles C. Thomas, Springfield, 1985. p. 684.

[7] 7. COOGAN, D. C. Neurology of the Visual System. Charles C. Thomas, Springfield, 1966, p. 92.

[8] 8. DUKE, J. R. & CLARK, D. B. Infantile amaurotic familial idiocy (Tay-Sachs disease) in the Negro race. Amer. J. Ophtal. 53:800, 1962.

[9] 9. FORD, F. R. Diseases of the Nervous System in Infancy, Childhood and Adolescente. Charles C. Thomas, Springfield, 1966, p. 728.

[10] 10. GONATAS, N. K. & GONATAS, J. Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. Exp. Neurol. 24:318, 1965.

[11] 11. KANOF, A.; ARONSON, S. M. & VOLK, B. W. Clinical progression of amaurotic family idiocy. Amer. J. Dis. Child. 97:656, 1959.

[12] 12. KNUDSON Jr., A. G. & KAPLAN, W. D. Genetics of the sphingolipidoses. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 395.

[13] 13. KOZINN, P. J.; WIENE, H. & COHEN, P. Infantile amaurotic family idiocy. J. Pediat. 51:581, 1957.

[14] 14. LANDING, B. H.; SILVERMAN, F. N.; CRAIG, J. M.; JACOBY, M. D.; LAKEY, M. E. & CHADWICK, D. L. Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108:503, 1964.

[15] 15. MYRIANTHOPOULOS, N. C. Some epidemiologic and genetic aspects of Tay-Sachs disease. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sph n-golipidoses. Academic Press, New York, 1962, p. 359.

[16] 16. SCHNECK, L. The early electroencephalographic and seizure characteristics of Tay-Sachs' disease. Acta neurol. scand. 41:163, 1965.

[17] 17. SPIEGEL-ADOLF, M.; BAIRD, H. W.; COLEMAN, H. S. & SZEKELY, E. G. Vacuolized blood lymphocytes in the lipidoses and other nervous system diseases with special reference to histochemical studies. In Stanley M. Aronson & Bruno W. Volk: Cerebral Sphingolipidoses. Academic Press, New York: Cerebral Sphingolipidoses. Academic Press, New York, 1962, p. 129.

[18] 18. SUZUK., K. & CHEN, G. C. Brain ceramid hexosides in Tay-Sachs disease and generalized gangliosidosis (G_M1 gangliosidosis). J. Lipid Res. 8:105, 1967.

[19] 19. WALSH, F. B. Clinical Neurophthalmology. Williams and Wilkins, Baltimore, 1957, p. 1.