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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.28 no.4 São Paulo Dec. 1970

http://dx.doi.org/10.1590/S0004-282X1970000400009 

Doença de Tay-Sachs em criança de raça negra

 

Tay-Sachs disease in a Negro child

 

 

Sérgio RosembergI; Antônio B. LefèvreII

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.

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