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Congenital van Bogaert-Bertrand Disease in a non-Jewish Family

Published online by Cambridge University Press:  01 August 2014

L. Morcaldi ,
G. Salvati ,
G. G. Giordano  and
G. C. Guazzi
L. Morcaldi*
Affiliation:
Cattedra di Neuropsichiatria Infantile, Università di Napoli Clinica delle Malattie Nervose e Mentali, Università di Napoli
G. Salvati*
Affiliation:
Cattedra di Neuropsichiatria Infantile, Università di Napoli Clinica delle Malattie Nervose e Mentali, Università di Napoli
G. G. Giordano*
Affiliation:
Cattedra di Neuropsichiatria Infantile, Università di Napoli Clinica delle Malattie Nervose e Mentali, Università di Napoli
G. C. Guazzi*
Affiliation:
Cattedra di Neuropsichiatria Infantile, Università di Napoli Clinica delle Malattie Nervose e Mentali, Università di Napoli
*
Cattedra di Neuropsichiatria Infantile, Università di Napoli, Italia
Cattedra di Neuropsichiatria Infantile, Università di Napoli, Italia
Cattedra di Neuropsichiatria Infantile, Università di Napoli, Italia
Clinica delle Malattie Nervose e Mentali, Università di Napoli, Italia

Summary

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Three siblings were born of consanguineous parents (first cousins), two of which, our probands, affected by van Bogaert-Bertrand disease. Clinical diagnosis was made by cerebral biopsy of one of the two sisters.

The genetic research ascertained a schizophrenic paternal cousin and a girl cousin showing neurotic character and epilepsy. One maternal sister died with a picture of progressive encephalopathy that could be similar to the one showed by our probands. In this family syphilis was present for three subsequent generations.

The authors describe the essential symptoms of the disease and point out the present trend of biological research for the discovery of the supposed metabolic trouble.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 2 , April 1969 , pp. 142 - 157
Copyright
Copyright © The International Society for Twin Studies 1969

References

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