Anemia de Fanconi: relato de dois casos na mesma família

Olazábal, Patricia J. Campos; Reimão, Rubens; Diament, Aron J.

doi:10.1590/S0004-282X1983000300010

Resumos

São registrados dois casos, ocorridos na mesma família, de anemia hipoplásica de Fanconi, nos quais um dos irmãos apresenta a tríade completa de anemia, malformações esqueléticas e quebras cromossômicas e, o outro, apenas as quebras cromossômicas.

Two familial cases of Fanconi's anaemia are reported. The princeps case shows the complete triad of anaemia, squeletic malformations and chromossome breakage, while in his brother only chromossome breakages were found.

Anemia de Fanconi: relato de dois casos na mesma família

Fanconi's anaemia: report of two cases in the same family

Patricia J. Campos Olazábal^I; Rubens Reimão^II; Aron J. Diament^III

^IMédico adido. Serviço de Neurologia Infantil do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

^IIMédico assistente. Serviço de Neurologia Infantil do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

^IIILivre-Docente. Serviço de Neurologia Infantil do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo

RESUMO

São registrados dois casos, ocorridos na mesma família, de anemia hipoplásica de Fanconi, nos quais um dos irmãos apresenta a tríade completa de anemia, malformações esqueléticas e quebras cromossômicas e, o outro, apenas as quebras cromossômicas.

SUMMARY

Two familial cases of Fanconi's anaemia are reported. The princeps case shows the complete triad of anaemia, squeletic malformations and chromossome breakage, while in his brother only chromossome breakages were found.

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Trabalho do Serviço de Neurologia Infantil do Departamento de Neuropsiquiatria da Faculdade de Medicina da Universidade de São Paulo.

Clínica Neurológica - Hospital das Clínicas - Caixa Postal 3461 - 01000 São Paulo, Brasil.

1. BERGER, R.; BRUSSEL, A. & SCHENMETZLER, C. - Anomalies chromosomiques et anémie de Fanconi. Étude de 4 cas. Nouv. Rev. franc. Hematol. 15:539, 1976.
2. FARRELL, G. C. - Fanconi' s familial hypoplastic anaemia with some unusual features. Med. J. Australia 1:116, 1976.
3. GAIND, B. N.; BASU, T. K. & VAISHNAVA, S. - Fanconi's anaemia: a case report. Ind. Pediat. 15:601, 1978.
4. HALL, J. G.; LEVIN, J.; KUHN, J. P.; OTTENHEIMER, E. J.; VAN BERXUM, K. A. P. & McKUSICK, V. - Thrombocytopenia with absent radius (TAR). Medicine 48:411, 1969.
5. HOLMES, L. B.; MOSER, H. W.; HALLDORSSON, S.; MACK, C; PANT, S. S. & MATZILEVICH, B. - Mental Retardation. An Atlas of Diseases with Associated Physical Abnormalities. Collier-Mac-Millian Ltd., London, 1972, pg. 282.
6. LEVY, W. - Aplastic anemia in siblings with multiple congenital anomalies (The Fanconi type). J. Pediatr. 40:24, 1952.
7. LI, F. P. - Classical Fanconi anemia in a family with hypoplastic anemia. J. Pediatr. 92:943, 1978.
8. McDONALD, R. & MIBASHAN, R. S. - Prolonged remission in Fanconi type anemia. Helv. paed. Acta 6:566, 1968.
9. MEME, J. S.; ODUORI, M. I. & GRIPENBERG, V. - Fanconi's aplastic anaemia: a case report of an afected african child and a review of the literature. East african Med. J. 52:462, 1975.
10. NILSON, L. R, - Chronic pancytopenia with multiple congenital abnormalities (Fanconi's anaemia). Acta paed. 49:518, 1960.
11. SALMON, M. A. & LINDEBAUM, R. H. - Developmental Defects and Syndromes. H. M. & M., Aylesburg (England), 1978, pg. 211.
12. SALMON, M. A. & LINDEBAUM, R. H. - Developmental Defects and Syndromes. H. M. & M., Aylesburg (England), 1978, pg. 208.
13. SCHIAVULLI, E. & GABRIELLE, S. - Anemia di Fanconi. Minerva ped. 30:251, 1978.
14. SCHROEDER, T. M.; ANCHUTZ, F. & KNOPP, A. - Spontanen chromosomem Aberrationem bei familiarer Panmyelopathie. Humangenetik 1:194, 1964.
15. SWIFT, M. R. & HIRSCHHORN, K. - Fanconi's anaemia. Inherited susceptibility to chromosome breakage in various tissues. Ann. int. Med. 65:486, 1966.

Datas de Publicação

Publicação nesta coleção
14 Ago 2012
Data do Fascículo
Set 1983

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

[1] 1. BERGER, R.; BRUSSEL, A. & SCHENMETZLER, C. - Anomalies chromosomiques et anémie de Fanconi. Étude de 4 cas. Nouv. Rev. franc. Hematol. 15:539, 1976.

[2] 2. FARRELL, G. C. - Fanconi' s familial hypoplastic anaemia with some unusual features. Med. J. Australia 1:116, 1976.

[3] 3. GAIND, B. N.; BASU, T. K. & VAISHNAVA, S. - Fanconi's anaemia: a case report. Ind. Pediat. 15:601, 1978.

[4] 4. HALL, J. G.; LEVIN, J.; KUHN, J. P.; OTTENHEIMER, E. J.; VAN BERXUM, K. A. P. & McKUSICK, V. - Thrombocytopenia with absent radius (TAR). Medicine 48:411, 1969.

[5] 5. HOLMES, L. B.; MOSER, H. W.; HALLDORSSON, S.; MACK, C; PANT, S. S. & MATZILEVICH, B. - Mental Retardation. An Atlas of Diseases with Associated Physical Abnormalities. Collier-Mac-Millian Ltd., London, 1972, pg. 282.

[6] 6. LEVY, W. - Aplastic anemia in siblings with multiple congenital anomalies (The Fanconi type). J. Pediatr. 40:24, 1952.

[7] 7. LI, F. P. - Classical Fanconi anemia in a family with hypoplastic anemia. J. Pediatr. 92:943, 1978.

[8] 8. McDONALD, R. & MIBASHAN, R. S. - Prolonged remission in Fanconi type anemia. Helv. paed. Acta 6:566, 1968.

[9] 9. MEME, J. S.; ODUORI, M. I. & GRIPENBERG, V. - Fanconi's aplastic anaemia: a case report of an afected african child and a review of the literature. East african Med. J. 52:462, 1975.

[10] 10. NILSON, L. R, - Chronic pancytopenia with multiple congenital abnormalities (Fanconi's anaemia). Acta paed. 49:518, 1960.

[11] 11. SALMON, M. A. & LINDEBAUM, R. H. - Developmental Defects and Syndromes. H. M. & M., Aylesburg (England), 1978, pg. 211.

[12] 12. SALMON, M. A. & LINDEBAUM, R. H. - Developmental Defects and Syndromes. H. M. & M., Aylesburg (England), 1978, pg. 208.

[13] 13. SCHIAVULLI, E. & GABRIELLE, S. - Anemia di Fanconi. Minerva ped. 30:251, 1978.

[14] 14. SCHROEDER, T. M.; ANCHUTZ, F. & KNOPP, A. - Spontanen chromosomem Aberrationem bei familiarer Panmyelopathie. Humangenetik 1:194, 1964.

[15] 15. SWIFT, M. R. & HIRSCHHORN, K. - Fanconi's anaemia. Inherited susceptibility to chromosome breakage in various tissues. Ann. int. Med. 65:486, 1966.