Síndrome de Rett: análise dos primeiros cinco casos diagnosticados no Brasil

Rosemberg, S.; Arita, F.; Campos, C.; Coimbra, R.; Posadas, R.; Ellovitch, S.; Geres, S.

doi:10.1590/S0004-282X1987000200007

Resumos

Cinco casos de pacientes com a síndrome de Rett são estudados. Os critérios diagnósticos são discutidos. Estes são os primeiros casos de síndrome de Rett relatados no Brasil. Os autores chamam atenção para o fato de esta entidade parecer ser em nosso país tão freqüente quanto nos EUA, Europa e Japão onde ela tem sido bastante estudada.

Five cases of patients with the Rett syndrome are reported. The criteria for this diagnosis in these cases are discussed. These are the first cases of the Rett syndrome reported in Brazil and the authors call attention to the fact that this syndrome seems to be in our country as frequent as in USA, Europa and Japan where it has been more studied.

Síndrome de Rett: análise dos primeiros cinco casos diagnosticados no Brasil

Rett syndrome: analysis of the first five cases diagnosed in Brazil

S. Rosemberg^I; F. Arita^II; C. Campos^II; R. Coimbra^III; R. Posadas^III; S. Ellovitch^III; S. Geres^III

^IProfessor Pleno do Departamento de Pediatria da FCMSCSP, Chefe do Setor de Neuropediatria e Professor Adjunto do Departamento de Patologia da FMTJSP, Disciplina de Neuropatologia - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria da Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP) e na Disciplina de Neuropatologia do Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

^IIInstrutor do Departamento de Pediatria da FCMSCSP - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria da Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP) e na Disciplina de Neuropatologia do Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

^IIIMédico Residente do Departamento de Pediatria da FCMSCSP - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria da Faculdade de Ciências Médicas da Santa Casa de São Paulo (FCMSCSP) e na Disciplina de Neuropatologia do Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo (FMTJSP)

RESUMO

Cinco casos de pacientes com a síndrome de Rett são estudados. Os critérios diagnósticos são discutidos. Estes são os primeiros casos de síndrome de Rett relatados no Brasil. Os autores chamam atenção para o fato de esta entidade parecer ser em nosso país tão freqüente quanto nos EUA, Europa e Japão onde ela tem sido bastante estudada.

SUMMARY

Five cases of patients with the Rett syndrome are reported. The criteria for this diagnosis in these cases are discussed. These are the first cases of the Rett syndrome reported in Brazil and the authors call attention to the fact that this syndrome seems to be in our country as frequent as in USA, Europa and Japan where it has been more studied.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Agradecimento - Agradecemos a Srta. Maria Eli P. de Castro pela colaboração na preparação do presente manuscrito

Departamento de Pediatria, Faculdade de Ciências Médicas da Samta Casa de São Paulo - Rua Dr. Cesário Motta Jr., 112 - 01221 - São Paulo, SP - Brasil.

¹
Amer. J. med. Genet. 24 (suppl. 1): 1-403, 1986.
2. Brain Dev. 7:275-374, 1985.
3. GILLBERG, C. ; WAHLSTRÖM, J. & HAGBERG, B. - A «new» chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at XP22 in 81 children with infantile autism, childhood psychosis and Rett syndrome. Brain Dev. 7:365, 1985.
4. HAGBERG, B. ; AICARDI, J. ; DIAS, K. & RAMOS, O. - A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girl: Rett syndrome: report of 35 cases. Ann. Neurol. 14:471, 1983.
5. HAGBERG, B. ; GOUTIÈRES, F. ; HANEFELD, F. ; RETT, A. & WILSON, J. - Rett syndrome: criteria for inclusion and exclusion. Brain Dev. 7:372, 1985.
6. HAGBERG, B. & WITT-ENGERSTRÖM, I. - Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Amer. J. med. Genet. 24:47, 1986.
7. HARDING, B.N. ; TTJDWAY, A.J.C. & WILSON, J. - Neuropathological studies in a child showing some features of the Rett syndrome. Brain Dev. 7:342, 1985.
8. HILLIG, U. - On the genetics of the Rett syndrome. Brain Dev. 7:368, 1985.
9. JELLINGER, K. & SEITELBERGER, F. - Neuropathology of Rett syndrome. Amer. J. med. Genet. 24:259, 1986.
10. KERR, A.M. & STEPHENSON, J.B.P. - Rett's syndrome in the west of Scotland. Brit. med. J. 291:579, 1985.
11. KULZ, J.; POHL, H. & SCHOBER, S. - Contribution regarding the Rett syndrome. Brain Dev. 7:316, 1985.
12. LUGARESI, E. ; CIRIGNOTTA, F. & MONTAGNA, P. - Abnormal breathing in the Rett syndrome. Brain Dev. 7:329, 1985.
13. MOSER, H.W. - Preamble to the workshop on Rett syndrome. Amer. J. med. Genet. 24:1, 1986.
14. NOMURA, Y. ; SEGAWA, M. & HIGURASHI, M. - Rett syndrome: an early catecholamine and indolamine deficient disorder? Brain Dev. 7:334, 1985.
15. NOMURA, Y. ; SEGAWA, M. & HASEGAWA, M. - Rett syndrome: clinical studies and pathophysiological consideration. Brain Dev. 6:475, 1984.
16. PERCY, A.K. ; ZOGHBI, H. & RICCARDI, V.M. - Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 7:300, 1985.
17. POUPLARD, F.; MONY, L. ; PINEAU, P.; PASQUIER, Ch. & LAMARRE, J. - Les troubles de la respiration du syndrome de Rett. Communication. 6e Reunion de la Société de Neurologie Infantile. Taormina, 1984.
18. RETT, A. - über ein cerebral atrophisches Syndrome bei Hyperammonaemie. Wien: Hollinek, 1966.
19. ROLANDO, S. - Rett syndrome: report of eight cases. Brain Dev. 7:290, 1985.
20. ROSEMBERG, S. ; ARITA, F.N. & CAMPOS, C. - Case of a Brazilian girl with the Rett syndrome. Brain Dev. (aceito para publicação).
21. WAHLSTROM, J. & ANVRET, M. - Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Amer. J. med. Genet. 24:361, 1986.

Datas de Publicação

Publicação nesta coleção
22 Jun 2011
Data do Fascículo
Jun 1987

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

[1] ¹
Amer. J. med. Genet. 24 (suppl. 1): 1-403, 1986.

[2] 2. Brain Dev. 7:275-374, 1985.

[3] 3. GILLBERG, C. ; WAHLSTRÖM, J. & HAGBERG, B. - A «new» chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at XP22 in 81 children with infantile autism, childhood psychosis and Rett syndrome. Brain Dev. 7:365, 1985.

[4] 4. HAGBERG, B. ; AICARDI, J. ; DIAS, K. & RAMOS, O. - A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girl: Rett syndrome: report of 35 cases. Ann. Neurol. 14:471, 1983.

[5] 5. HAGBERG, B. ; GOUTIÈRES, F. ; HANEFELD, F. ; RETT, A. & WILSON, J. - Rett syndrome: criteria for inclusion and exclusion. Brain Dev. 7:372, 1985.

[6] 6. HAGBERG, B. & WITT-ENGERSTRÖM, I. - Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Amer. J. med. Genet. 24:47, 1986.

[7] 7. HARDING, B.N. ; TTJDWAY, A.J.C. & WILSON, J. - Neuropathological studies in a child showing some features of the Rett syndrome. Brain Dev. 7:342, 1985.

[8] 8. HILLIG, U. - On the genetics of the Rett syndrome. Brain Dev. 7:368, 1985.

[9] 9. JELLINGER, K. & SEITELBERGER, F. - Neuropathology of Rett syndrome. Amer. J. med. Genet. 24:259, 1986.

[10] 10. KERR, A.M. & STEPHENSON, J.B.P. - Rett's syndrome in the west of Scotland. Brit. med. J. 291:579, 1985.

[11] 11. KULZ, J.; POHL, H. & SCHOBER, S. - Contribution regarding the Rett syndrome. Brain Dev. 7:316, 1985.

[12] 12. LUGARESI, E. ; CIRIGNOTTA, F. & MONTAGNA, P. - Abnormal breathing in the Rett syndrome. Brain Dev. 7:329, 1985.

[13] 13. MOSER, H.W. - Preamble to the workshop on Rett syndrome. Amer. J. med. Genet. 24:1, 1986.

[14] 14. NOMURA, Y. ; SEGAWA, M. & HIGURASHI, M. - Rett syndrome: an early catecholamine and indolamine deficient disorder? Brain Dev. 7:334, 1985.

[15] 15. NOMURA, Y. ; SEGAWA, M. & HASEGAWA, M. - Rett syndrome: clinical studies and pathophysiological consideration. Brain Dev. 6:475, 1984.

[16] 16. PERCY, A.K. ; ZOGHBI, H. & RICCARDI, V.M. - Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 7:300, 1985.

[17] 17. POUPLARD, F.; MONY, L. ; PINEAU, P.; PASQUIER, Ch. & LAMARRE, J. - Les troubles de la respiration du syndrome de Rett. Communication. 6e Reunion de la Société de Neurologie Infantile. Taormina, 1984.

[18] 18. RETT, A. - über ein cerebral atrophisches Syndrome bei Hyperammonaemie. Wien: Hollinek, 1966.

[19] 19. ROLANDO, S. - Rett syndrome: report of eight cases. Brain Dev. 7:290, 1985.

[20] 20. ROSEMBERG, S. ; ARITA, F.N. & CAMPOS, C. - Case of a Brazilian girl with the Rett syndrome. Brain Dev. (aceito para publicação).

[21] 21. WAHLSTROM, J. & ANVRET, M. - Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Amer. J. med. Genet. 24:361, 1986.