Síndrome de Aicardi: relato de dois casos

Abraham, Ronaldo; Kanda, Paulo Afonso M.; Silva, Luciano José Basilio da; Mello, Paulo de; Segre, Nicolau G.

doi:10.1590/S0004-282X1986000400007

Resumos

A síndrome de Aicardi é caracterizada por agenesia do corpo caloso retardo mental severo, convulsões (frequentemente espasmos em flexão), alterações características do eletrencefalograma (padrão surto-depressão), lacunas coriorretinianas típicas, ocorrência no sexo feminino. Outros achad associados são displasias de costelas e de vértebras; heterotipias corticais são encontradas frequentemente. A síndrome é de natureza hereditária, sendo no presente considerada devida a traço dominante ligado ao cromossoma X, com letalidade masculina. Os autores descrevem dois casos da síndrome que mostram o quadro clínico completo da entidade.

Aicardi's syndrome is a clinical entity characterized by agenesis of the corpus callosum, severe mental subnormality, seizures (most freque tly spasms in flexion), characteristic electroencephalographic changes (burst-supression pattern), typical chorioretinal lacunae, present only in females. Other associated findings are rib and vertebral dysplasias; frequently found are cortical heterotopias. This syndrome is of hereditary origin, now considered a probable X-linked dominant trait with male lethality. The authors describe two cases of this syndrome with the full clinical picture.

Síndrome de Aicardi: relato de dois casos

Aicardi's syndrome: report of two cases

Ronaldo Abraham^I; Paulo Afonso M. Kanda^II; Luciano José Basilio da Silva^III; Paulo de Mello^III; Nicolau G. Segre^III

^IProfessor Responsável pela Disciplina de Neurologia da Faculdade de Medicina da Universidade de Taubaté - Trabalho realizado na Faculdade de Medicina do Centro de Ciências Biológicas e da Saúde da Universidade de Taubaté (CCBSUT)

^IIMédico Residente do Serviço de Clínica Médica do Hospital Heliópolis de São Paulo - Trabalho realizado na Faculdade de Medicina do Centro de Ciências Biológicas e da Saúde da Universidade de Taubaté (CCBSUT)

^IIIAluno do Curso de Medicina do CCBSUT - Trabalho realizado na Faculdade de Medicina do Centro de Ciências Biológicas e da Saúde da Universidade de Taubaté (CCBSUT)

RESUMO

A síndrome de Aicardi é caracterizada por agenesia do corpo caloso retardo mental severo, convulsões (frequentemente espasmos em flexão), alterações características do eletrencefalograma (padrão surto-depressão), lacunas coriorretinianas típicas, ocorrência no sexo feminino. Outros achad associados são displasias de costelas e de vértebras; heterotipias corticais são encontradas frequentemente. A síndrome é de natureza hereditária, sendo no presente considerada devida a traço dominante ligado ao cromossoma X, com letalidade masculina. Os autores descrevem dois casos da síndrome que mostram o quadro clínico completo da entidade.

SUMMARY

Aicardi's syndrome is a clinical entity characterized by agenesis of the corpus callosum, severe mental subnormality, seizures (most freque tly spasms in flexion), characteristic electroencephalographic changes (burst-supression pattern), typical chorioretinal lacunae, present only in females. Other associated findings are rib and vertebral dysplasias; frequently found are cortical heterotopias. This syndrome is of hereditary origin, now considered a probable X-linked dominant trait with male lethality. The authors describe two cases of this syndrome with the full clinical picture.

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Agradecimentos - Os autores agradecem à Profa. Sónia G. Saldanha, à Dra. Stella Márcia A. Tavares, ao Serviço de Neuro-Oftalmologia do Hospital das Clínicas de São Paulo e ao Laboratório de Genética Humana do Departamento de Biologia da Universidade de São Paulo, pela gentil colaboração.

Rua Dr. Souza Alves, 364 12020 - Taubaté, SP - Brasil.

1. AICARDI, J. - Aicardi syndrome in a male infant (Letter); Hunter A.G.W. (Letter); Curatolo P., Libutti G., Dallapiccola A.B. (Reply); Hunter A.G.W. (Reply). J. Pediatr., 97:1040, 1980.
2. AICARDI, J.; CHEVRIE, J.J. & ROUSSELIE, P. - Le syndrome spasmes en flexion, agénésie calleuse, anomalies chorio-rétiniennes. Arch. fr. Péd. 26:1103, 1969.
3. AICARDI, J.; LEFEBVRE, J. & LERIQUE-KOECHLIN, A. - A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroenceph. clin. Neurophysiol. 19:609, 1965.
4. BENASAYAG, L.; THOMSON, A.; MANZITTI E. & ARRARAS, A. - A propósito de tres casos de síndrome de Aicardi (hipsarritmia con alteraciones oculares). Rev. neurol. argent. 1:27, 1974.
5. BERTONI, J.M.; Von LOH. S. & ALLEN. R.J. - The Aicardi syndrome: report of 4 cases and review of the literature. Ann. Neurol. 5:475, 1979.
6. COURSAULT, R.; DELOUVRIER, M.T.; DESBLEDS, M.T.; MARSAULT, C. & NAHUM, H. - Agénésie du corps calleux vue en tomodensitométrie. J. Radiol. 62:103, 1981.
7. CURATOLO, P.: LIBRUTTI, G. & DALLAPICCOLA, B. - Aicardi syndrome in a male infant. J. Pediatr. 96:286, 1980.
8. DAVIDSON, H.D.; ABRAHAM, R. & STEINER, R.E. - Agenesis of the corpus callosum: magnetic resonance imaging. Radiology 155:371, 1985.
9. De JONG, J.G.Y.; DELLEMAN, J.W.; HOUBEN, M.; MANSCHOT, W.A.; De MINGER, A.; MOL, J. & SLOOF, J.L. - Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Neurology 26:1152, 1976.
10. DENNIS, J. & BOWER. B.D. - The Aicardi syndrome. Develop. Med. Child Neurol. 14:382, 1972.
11. DINANI, S. & JANCAR, J. - Aicardi's syndrome (agenesis of the corpus callosum, infantile spasms, and ocular anomalies). J. ment. Defic. Res. 28:143, 1984.
12. ERENBERG, G. - Aicardi's syndrome: report of an autopsied case and review of literature. Cleveland Clin. Quart. 50:341, 1983.
13. FARIELLO, R.G.; CHUN, R.W.M.; DORO, J.M.; BUNCIC, J.R. & PRICHARD. J.S. - EEG recognition of Aicardi's syndrome. Arch. Neurol. 34:563, 1977.
14. FEJERMAN, N.; DeCORIAT, L.F. & MEDINA, C.S. - Síndrome de Aicardi. Rev. neurol. argent. 1:35, 1974.
15. GARDNER, W.J. - Aicardi's syndrome: a result of overdistension of the neural tube. Child's Brain 9:419, 1982.
16. HOPKINS, I.J.; HUMPHREY I.; KEITH C.G.; SUSMAN, M.; WEBB, G.C. & TURNER, E.K. - The Aicardi syndrome in a 47, XXY male. Austral. Pediatr. J. 15:278. 1979.
17. LEVY, Y.; WAISMAN, Y.; WEITZ, R.; KIVITI, S.; NISSENKORN, I.; WIJSENBECK, J. & STEINHERZ, R. - Aicardi syndrome: a cause of infantile seizures. Clin. Pediatr. 23:284, 1984.
18. MARES P.; FILIP J. & MARES J. - The role of the corpus callosum in the interhemispheric transmission of epileptic electrical activity. Physiol, bohemoslovaca 27:23, 1978.
19. ORQUIN J. - Syndrome d'Aicardi: un cas possiblement dû à la rubéole congénitale. Canad. J. Ophtalmol. 16:200, 1981.
20. PARRISH, M.L. ; ROESSMANN U. & LEVINSOHN, M.W. - Agenesis of the corpus callosum: a study of the frequency of associated malformations. Ann. Neurol. 6:349, 1979.
21. PHILLIPS, H.E. ; CARTER, A.P. ; KENNEDY, J.L. ; ROSMAN, P. & O'CONNOR, J.F. - Aicardi's syndrome: radiologic manifestations. Radiology 127:453, 1978.
22. RENIER, W. ; GAB REELS, P.; MOL, L. & KORTEN, J. - Agenesis of the corpus callosum, chorioretinopathy and infantile spasms (Aicardi syndrome). Psychiatria, Neurologia, Neurochirurgia. Elsevier Publ. Co., Amsterdam, 1973, pg. 39.
23. ROBINOW, M. ; JOHNSON F. & MINELLA P.A. - Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J. Pediatr. 104:404, 1984.
24. ROPERS H.H. ; ZUFFARDI, O. ; BLANCHI, E. & TIEPOLO, L. - Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum. Genet. 61:364, 1982.
25. SWISCHUK L.E. - Radiology of the Newborn and Young Infant. Williams & Wilkins Co., Baltimore, 1978, pg. 540.
26. TACHIBANA H. ; MATSUI A.; TAKESHITA K. & TAMAI, T. - Aicardi's syndrome with multiple papilloma of choroid plexus. Arch. Neurol. 39:194, 1982.
27. ZAMBONI, G. ; BERNARD!, F. ; DANESINO, C. ; DEL MAJNO, V.M. ; BEGHINI, G. & DELLA BERNARDINA, B. - Agenesis of the corpus callosum with mosaicism 46, XY/47, XY, extra ring chromosome. J. med. Genet. 17:59, 1980.

Datas de Publicação

Publicação nesta coleção
29 Jun 2011
Data do Fascículo
Dez 1986

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

[1] 1. AICARDI, J. - Aicardi syndrome in a male infant (Letter); Hunter A.G.W. (Letter); Curatolo P., Libutti G., Dallapiccola A.B. (Reply); Hunter A.G.W. (Reply). J. Pediatr., 97:1040, 1980.

[2] 2. AICARDI, J.; CHEVRIE, J.J. & ROUSSELIE, P. - Le syndrome spasmes en flexion, agénésie calleuse, anomalies chorio-rétiniennes. Arch. fr. Péd. 26:1103, 1969.

[3] 3. AICARDI, J.; LEFEBVRE, J. & LERIQUE-KOECHLIN, A. - A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroenceph. clin. Neurophysiol. 19:609, 1965.

[4] 4. BENASAYAG, L.; THOMSON, A.; MANZITTI E. & ARRARAS, A. - A propósito de tres casos de síndrome de Aicardi (hipsarritmia con alteraciones oculares). Rev. neurol. argent. 1:27, 1974.

[5] 5. BERTONI, J.M.; Von LOH. S. & ALLEN. R.J. - The Aicardi syndrome: report of 4 cases and review of the literature. Ann. Neurol. 5:475, 1979.

[6] 6. COURSAULT, R.; DELOUVRIER, M.T.; DESBLEDS, M.T.; MARSAULT, C. & NAHUM, H. - Agénésie du corps calleux vue en tomodensitométrie. J. Radiol. 62:103, 1981.

[7] 7. CURATOLO, P.: LIBRUTTI, G. & DALLAPICCOLA, B. - Aicardi syndrome in a male infant. J. Pediatr. 96:286, 1980.

[8] 8. DAVIDSON, H.D.; ABRAHAM, R. & STEINER, R.E. - Agenesis of the corpus callosum: magnetic resonance imaging. Radiology 155:371, 1985.

[9] 9. De JONG, J.G.Y.; DELLEMAN, J.W.; HOUBEN, M.; MANSCHOT, W.A.; De MINGER, A.; MOL, J. & SLOOF, J.L. - Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Neurology 26:1152, 1976.

[10] 10. DENNIS, J. & BOWER. B.D. - The Aicardi syndrome. Develop. Med. Child Neurol. 14:382, 1972.

[11] 11. DINANI, S. & JANCAR, J. - Aicardi's syndrome (agenesis of the corpus callosum, infantile spasms, and ocular anomalies). J. ment. Defic. Res. 28:143, 1984.

[12] 12. ERENBERG, G. - Aicardi's syndrome: report of an autopsied case and review of literature. Cleveland Clin. Quart. 50:341, 1983.

[13] 13. FARIELLO, R.G.; CHUN, R.W.M.; DORO, J.M.; BUNCIC, J.R. & PRICHARD. J.S. - EEG recognition of Aicardi's syndrome. Arch. Neurol. 34:563, 1977.

[14] 14. FEJERMAN, N.; DeCORIAT, L.F. & MEDINA, C.S. - Síndrome de Aicardi. Rev. neurol. argent. 1:35, 1974.

[15] 15. GARDNER, W.J. - Aicardi's syndrome: a result of overdistension of the neural tube. Child's Brain 9:419, 1982.

[16] 16. HOPKINS, I.J.; HUMPHREY I.; KEITH C.G.; SUSMAN, M.; WEBB, G.C. & TURNER, E.K. - The Aicardi syndrome in a 47, XXY male. Austral. Pediatr. J. 15:278. 1979.

[17] 17. LEVY, Y.; WAISMAN, Y.; WEITZ, R.; KIVITI, S.; NISSENKORN, I.; WIJSENBECK, J. & STEINHERZ, R. - Aicardi syndrome: a cause of infantile seizures. Clin. Pediatr. 23:284, 1984.

[18] 18. MARES P.; FILIP J. & MARES J. - The role of the corpus callosum in the interhemispheric transmission of epileptic electrical activity. Physiol, bohemoslovaca 27:23, 1978.

[19] 19. ORQUIN J. - Syndrome d'Aicardi: un cas possiblement dû à la rubéole congénitale. Canad. J. Ophtalmol. 16:200, 1981.

[20] 20. PARRISH, M.L. ; ROESSMANN U. & LEVINSOHN, M.W. - Agenesis of the corpus callosum: a study of the frequency of associated malformations. Ann. Neurol. 6:349, 1979.

[21] 21. PHILLIPS, H.E. ; CARTER, A.P. ; KENNEDY, J.L. ; ROSMAN, P. & O'CONNOR, J.F. - Aicardi's syndrome: radiologic manifestations. Radiology 127:453, 1978.

[22] 22. RENIER, W. ; GAB REELS, P.; MOL, L. & KORTEN, J. - Agenesis of the corpus callosum, chorioretinopathy and infantile spasms (Aicardi syndrome). Psychiatria, Neurologia, Neurochirurgia. Elsevier Publ. Co., Amsterdam, 1973, pg. 39.

[23] 23. ROBINOW, M. ; JOHNSON F. & MINELLA P.A. - Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J. Pediatr. 104:404, 1984.

[24] 24. ROPERS H.H. ; ZUFFARDI, O. ; BLANCHI, E. & TIEPOLO, L. - Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum. Genet. 61:364, 1982.

[25] 25. SWISCHUK L.E. - Radiology of the Newborn and Young Infant. Williams & Wilkins Co., Baltimore, 1978, pg. 540.

[26] 26. TACHIBANA H. ; MATSUI A.; TAKESHITA K. & TAMAI, T. - Aicardi's syndrome with multiple papilloma of choroid plexus. Arch. Neurol. 39:194, 1982.

[27] 27. ZAMBONI, G. ; BERNARD!, F. ; DANESINO, C. ; DEL MAJNO, V.M. ; BEGHINI, G. & DELLA BERNARDINA, B. - Agenesis of the corpus callosum with mosaicism 46, XY/47, XY, extra ring chromosome. J. med. Genet. 17:59, 1980.