Síndrome de rett relato de 7 casos

Bruck, Isac; Antoniuk, Sérgio A.; Paola, Duilton de; Araki, Telma Yumi; Flenik, Luzilma T.

doi:10.1590/S0004-282X1990000400014

Resumos

Os autores observaram, no período de agosto-1978 a outubro-1988, 7 meninas com síndrome de Rett, cujo diagnóstico foi feito entre as idades de 2 e 10 anos, sendo seguidas por período médio de 5 anos e 9 meses. O início da regressão do desenvolvimento psicomotor ocorreu entre 5 e 24 meses. Microcefalia adquirida estava presente em 6 casos e hiperventilação, em 3. As convulsões tônico-clônicas generalizadas foram as mais freqüentes (6 pacientes) e tiveram início entre 1 e 7 anos de idade, a maioria medicada com carbamazepina. O EEG mostrou-se; lento difuso em 4 pacientes; com atividade irritativa em 5; normal em 1. As alterações no EEG, embora não específicas podem auxiliar no diagnóstico. A etiologia da síndrome permanece ainda desconhecida, sendo discutidos os papéis de possíveis causas genéticas e de neuro-transmissores.

The authors report the clinical and laboratory findings of seven girls with the diagnosis of Rett syndrome seen at the clinic from August 1978 to October 1988. The patient's age varied from two to ten years and they were followed up for 5 years (and 9 months in average. The development milestone started to deteriorate between five and twenty-four months. Acquired microcephaly was present in six patients and three cases had hyperventilation. Generalized tonic-clonic seizures were the most frequent type of seizures (6 patients) beginning between one and seven years and effectively controlled with carbamazepine. The EEG's abnormal findings were spike discharges (5 patients) and paroxysmal high--amplitude theta activity (4 patients). The remaining laboratory tests were unremarkable. The pathogenesis of Rett syndrome has not been determined. The clinical evaluation is intended to contribute to the knowledge of that rather uncommon disease.

Isac Bruck^I; Sérgio A. Antoniuk^II; Duilton de Paola^III; Telma Yumi Araki^IV; Luzilma T. Flenik^IV

^IProfessor Assistente do DP - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria (DP) do Setor de Ciências da Saúde da Universidade Federal do Paraná (UFPR)

^IIMestre em Pediatria do DP - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria (DP) do Setor de Ciências da Saúde da Universidade Federal do Paraná (UFPR)

^IIIMédico Responsável pelo Setor de Métodos Neurológicos do Hospital de Clínicas da UFPR - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria (DP) do Setor de Ciências da Saúde da Universidade Federal do Paraná (UFPR)

^IVMédica Residente do DP - Trabalho realizado no Setor de Neuropediatria do Departamento de Pediatria (DP) do Setor de Ciências da Saúde da Universidade Federal do Paraná (UFPR)

RESUMO

Os autores observaram, no período de agosto-1978 a outubro-1988, 7 meninas com síndrome de Rett, cujo diagnóstico foi feito entre as idades de 2 e 10 anos, sendo seguidas por período médio de 5 anos e 9 meses. O início da regressão do desenvolvimento psicomotor ocorreu entre 5 e 24 meses. Microcefalia adquirida estava presente em 6 casos e hiperventilação, em 3. As convulsões tônico-clônicas generalizadas foram as mais freqüentes (6 pacientes) e tiveram início entre 1 e 7 anos de idade, a maioria medicada com carbamazepina. O EEG mostrou-se; lento difuso em 4 pacientes; com atividade irritativa em 5; normal em 1. As alterações no EEG, embora não específicas podem auxiliar no diagnóstico. A etiologia da síndrome permanece ainda desconhecida, sendo discutidos os papéis de possíveis causas genéticas e de neuro-transmissores.

SUMMARY

The authors report the clinical and laboratory findings of seven girls with the diagnosis of Rett syndrome seen at the clinic from August 1978 to October 1988. The patient's age varied from two to ten years and they were followed up for 5 years (and 9 months in average. The development milestone started to deteriorate between five and twenty-four months. Acquired microcephaly was present in six patients and three cases had hyperventilation. Generalized tonic-clonic seizures were the most frequent type of seizures (6 patients) beginning between one and seven years and effectively controlled with carbamazepine. The EEG's abnormal findings were spike discharges (5 patients) and paroxysmal high--amplitude theta activity (4 patients). The remaining laboratory tests were unremarkable. The pathogenesis of Rett syndrome has not been determined. The clinical evaluation is intended to contribute to the knowledge of that rather uncommon disease.

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Dr. Isac Bruck - Rua Ébano Pereira 60 conj 1107 - 80410 Curitiba PR - Brasil.

1. All-Mateen M, Philippart M, Shields D - Rett syndrome: a commonly overlooked progressive encephalopathy in girls. Am J Child 140:761, 1986.
2. Brack I, Antoniuk SA, Paola D, Araki TY - Características clínicas e eletroencefalográ-ficas na síndrome de Rett: descrição de 5 casos. Arq Neuro-Psiquiat 46(supl) :165, 1988.
3. Glaze DG, Frost JD, Zoghbi HY - Rett's syndrome: correlation of electroencephalo-graphic characteristics with clinical staging. Arch Neurol 44:1053, 1987.
4. Haas RH, Rice M - Is Rett's syndrome a disorder of carbohydrate metabolism? Hyperpyruvicidemia and treatment by ketogenic diet (abstr). Ann Neurol 18:418, 1985.
5. Hagberg B, Aicardi J, Dias K, Ramos O - A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471, 1983.
6. Hagberg B, Witt-Engerstrom F - Rett syndrome: criteria for inclusion and exclusion. Brain Dev 7:372, 1985.
7. Naidu S, Chatterjer S Murphy M, Vematsu S, Phillapart M, Moser H - Rett syndrome: new observations. Brain Dev 9:525, 1987.
8. Nomura Y, Segawa M, Hasegawa M - Rett syndrome: clinical studies and pathophysiological considerations. Brain Dev 6:475, 1984.
9. Philippart M - Clinical recognition of Rett syndrome. Am J Gen Med 24:111, 1986.
10. Rosemberg S, Arita F, Campos C, Coimbra R, Posodres R, Ellovitch S, Geus S - Syndrome de Rett: análise dos primeiros 5 casos diagnosticados no Brasil. Arq Neuro--Psiquiat 45:143, 1987.
11. Trevathan E, Moser H - Diagnostic criteria for Rett syndrome. Ann Neurol 23:425, 1988.
12. Verma NP, Cheda RL, Nigro MA₎ Hart ZH - Eletroencephalographic findings in Rett syndrome. Eletroenceph Clin Neurophysiol 64:394, 1986.

Síndrome de rett relato de 7 casos

Rett's syndrome: report of 7 cases

Datas de Publicação

Publicação nesta coleção
19 Maio 2011
Data do Fascículo
Dez 1990

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

[1] 1. All-Mateen M, Philippart M, Shields D - Rett syndrome: a commonly overlooked progressive encephalopathy in girls. Am J Child 140:761, 1986.

[2] 2. Brack I, Antoniuk SA, Paola D, Araki TY - Características clínicas e eletroencefalográ-ficas na síndrome de Rett: descrição de 5 casos. Arq Neuro-Psiquiat 46(supl) :165, 1988.

[3] 3. Glaze DG, Frost JD, Zoghbi HY - Rett's syndrome: correlation of electroencephalo-graphic characteristics with clinical staging. Arch Neurol 44:1053, 1987.

[4] 4. Haas RH, Rice M - Is Rett's syndrome a disorder of carbohydrate metabolism? Hyperpyruvicidemia and treatment by ketogenic diet (abstr). Ann Neurol 18:418, 1985.

[5] 5. Hagberg B, Aicardi J, Dias K, Ramos O - A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471, 1983.

[6] 6. Hagberg B, Witt-Engerstrom F - Rett syndrome: criteria for inclusion and exclusion. Brain Dev 7:372, 1985.

[7] 7. Naidu S, Chatterjer S Murphy M, Vematsu S, Phillapart M, Moser H - Rett syndrome: new observations. Brain Dev 9:525, 1987.

[8] 8. Nomura Y, Segawa M, Hasegawa M - Rett syndrome: clinical studies and pathophysiological considerations. Brain Dev 6:475, 1984.

[9] 9. Philippart M - Clinical recognition of Rett syndrome. Am J Gen Med 24:111, 1986.

[10] 10. Rosemberg S, Arita F, Campos C, Coimbra R, Posodres R, Ellovitch S, Geus S - Syndrome de Rett: análise dos primeiros 5 casos diagnosticados no Brasil. Arq Neuro--Psiquiat 45:143, 1987.

[11] 11. Trevathan E, Moser H - Diagnostic criteria for Rett syndrome. Ann Neurol 23:425, 1988.

[12] 12. Verma NP, Cheda RL, Nigro MA₎ Hart ZH - Eletroencephalographic findings in Rett syndrome. Eletroenceph Clin Neurophysiol 64:394, 1986.