Síndrome de Aicardi e papiloma do plexo coróide: uma associação rara. Relato de caso

Aguiar, Maria de Fátima M.; Cavalcanti, Marisa; Barbosa, Hamilton; Vilela, Suzete Leme; Mendonça, José Luiz; Horta, Elaine

doi:10.1590/S0004-282X1996000200022

Resumos

Relata-se o caso clínico de uma criança de 5 meses de idade, do sexo feminino, com achados característicos da síndrome de Aicardi: agenesia do corpo caloso, espasmos infantis, anormalidades oculares ("chorioretinal lacunae" e microftalmia), atraso do desenvolvimento neuropsicomotor e malformações vertebrais com cifoescoliose. Os exames complementares confirmaram o diagnóstico e as imagens neurorradiológicas evidenciaram, além da agenesia do corpo caloso, massa localizada em região atrioventricular esquerda (papiloma do plexo coróide). A síndrome de Aicardi associada a papiloma do plexo coróide é rara, sendo este o sétimo caso relatado na literatura. Os autores sugerem que o papiloma do plexo coróide seja considerado tumor característico da síndrome de Aicardi, pois a sua freqüência é mais do que coincidental.

síndrome de Aicardi; papiloma do plexo coróide

The authors report a case of a 5 months old female child with clinical features of Aicardi syndrome: agenesis of the corpus callosum, occular abnormalities ("chorioretinal lacunae" and microphthalmus), infantile spasms, mental retardation, vertebral malformations and thoracic deformity. The pacient was submitted to complementary examinations that confirmed the diagnosis. The neuroradiologic images (MRI) showed besides corpus callosum agenesis a tumor located at the left ventricular atrium (choroid plexus papilloma). This association is a rare occurrence and the present case is the seventh described in literature. Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic tumor of the Aicardi syndrome.

Aicardi syndrome; choroid plexus papilloma

Síndrome de Aicardi e papiloma do plexo coróide: uma associação rara. Relato de caso

Aicardi syndrome and choroid plexus papilloma: a rare association. Case report

Maria de Fátima M. Aguiar^I; Marisa Cavalcanti^II; Hamilton Barbosa^I; Suzete Leme Vilela^I; José Luiz Mendonça^III; Elaine Horta^II

^INeuropediatra do Hospital de Base do Distrito Federal (HBDF)

^IIEx-Residente do Setor de Neuropediatria do HBDF

^IIINeuro-radiologista do HBDF. Aceite: 8-janeiro-1996

RESUMO

Relata-se o caso clínico de uma criança de 5 meses de idade, do sexo feminino, com achados característicos da síndrome de Aicardi: agenesia do corpo caloso, espasmos infantis, anormalidades oculares ("chorioretinal lacunae" e microftalmia), atraso do desenvolvimento neuropsicomotor e malformações vertebrais com cifoescoliose. Os exames complementares confirmaram o diagnóstico e as imagens neurorradiológicas evidenciaram, além da agenesia do corpo caloso, massa localizada em região atrioventricular esquerda (papiloma do plexo coróide). A síndrome de Aicardi associada a papiloma do plexo coróide é rara, sendo este o sétimo caso relatado na literatura. Os autores sugerem que o papiloma do plexo coróide seja considerado tumor característico da síndrome de Aicardi, pois a sua freqüência é mais do que coincidental.

Palavras-chave: síndrome de Aicardi, papiloma do plexo coróide.

ABSTRACT

The authors report a case of a 5 months old female child with clinical features of Aicardi syndrome: agenesis of the corpus callosum, occular abnormalities ("chorioretinal lacunae" and microphthalmus), infantile spasms, mental retardation, vertebral malformations and thoracic deformity. The pacient was submitted to complementary examinations that confirmed the diagnosis. The neuroradiologic images (MRI) showed besides corpus callosum agenesis a tumor located at the left ventricular atrium (choroid plexus papilloma). This association is a rare occurrence and the present case is the seventh described in literature. Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic tumor of the Aicardi syndrome.

Key-words: Aicardi syndrome, choroid plexus papilloma.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Agradecimentos: Dra. Teresa de Carvalho (Cariótipo); Dr. Eduardo Morales (Fundoscopia e Ecografía Ocular); Dr. Tito Mundim (Ressonância Magnética) e Dr. Jaime M. Brum (Triagem para Erros Inatos do Metabolismo).

Dra. Maria de Fátima M. Aguiar - SON 309 Bloco A Apto 303 - 70755-010 Brasília DF - Brasil.

1. Aicardi J, Lefèbre J, Lerique-Koechlin A. A new syndrome: spasm in flexion, callosal agenesis, occular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19 (Suppl):609-610.
2. Carney SH, Brodsky MC, Good WV, Glasier CM, Greibel ML, Cunnif C. Aicardi syndrome: more than meets the eye. Surv Ophtalmol 1993;37:419-424.
3. Castroviejo IP, Villarejo F et al. Childhood choroid plexus neoplasm. Eur J Pediatr 1983;40:51-56.
4. Curatolo P, Libutti G, Dallapicola B. Aicardi syndrome in a male infant. J Pediatr 1980;96:286-287.
5. Font RL, Marines HM, Cartwright J Jr, Bauserman SC. Aicardi syndrome: a clinicopathologic case report including electron microscopic observations. Ophtalmology 1991;98:1727-1731.
6. Hamano K, Matsubara T, Shibata S, Hirano C, Ito Z, Ase Y, Kusakari J, Takita H. Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. Brain Dev 1991;13:438-441.
7. de Jong JGY, Delleman JW, Houben M, Manschot WA, Minjer A, Mol J, Sloof JL. Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome): clinical and pathologic findings. Neurology 1976;26:1152-1158.
8. Matson D, Crofton FDL. Papilloma of the choroid plexus in childhood. J Neurosurg 1960;17:1002-1027.
9. Molina JA, Mateos F, Merino M, Epifanio JL, Gorrõno M. Aicardi syndrome in two sisters. J Pediatr 1989;115:282-283.
10. Ohsuka Y, Oka E, Terasaki T, Ohtahara S. Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 1993;34: 627-634.
11. Robinow M, Johnson F, Minella PA. Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J Pediatr 1984; 104: 404-405.
12. Souza IE, Bale JF. The diagnosis of congenital infection: contemporary strategies. J Child Neurol 1995;10:271-282.
13. Swaiman KF. Pediatric neurology : principles and practice. Ed 2. Minneapolis 1994:349-442, 906-907.
14. Tachibana H, Matsui A, Takeshita K, Tamai T. Aicardi's syndrome with multiple papilloma of choroid plexus. Arch Neurol 1982;39.i94.
15. Willis J, Rosman NP. The Aicardi syndrome versus congenital infection: diagnostic considerations. J Pediatr 1980;96:235-239.
16. Yamagata T, Momoi M, Myiamoto S, Kobayashi S, Kamoshita S. Multi-institutional survey of the Aicardi syndrome in Japan. Brain Dev 1990;12:760-765.

Datas de Publicação

Publicação nesta coleção
06 Dez 2010
Data do Fascículo
Jun 1996

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

[1] 1. Aicardi J, Lefèbre J, Lerique-Koechlin A. A new syndrome: spasm in flexion, callosal agenesis, occular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19 (Suppl):609-610.

[2] 2. Carney SH, Brodsky MC, Good WV, Glasier CM, Greibel ML, Cunnif C. Aicardi syndrome: more than meets the eye. Surv Ophtalmol 1993;37:419-424.

[3] 3. Castroviejo IP, Villarejo F et al. Childhood choroid plexus neoplasm. Eur J Pediatr 1983;40:51-56.

[4] 4. Curatolo P, Libutti G, Dallapicola B. Aicardi syndrome in a male infant. J Pediatr 1980;96:286-287.

[5] 5. Font RL, Marines HM, Cartwright J Jr, Bauserman SC. Aicardi syndrome: a clinicopathologic case report including electron microscopic observations. Ophtalmology 1991;98:1727-1731.

[6] 6. Hamano K, Matsubara T, Shibata S, Hirano C, Ito Z, Ase Y, Kusakari J, Takita H. Aicardi syndrome accompanied by auditory disturbance and multiple brain tumors. Brain Dev 1991;13:438-441.

[7] 7. de Jong JGY, Delleman JW, Houben M, Manschot WA, Minjer A, Mol J, Sloof JL. Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome): clinical and pathologic findings. Neurology 1976;26:1152-1158.

[8] 8. Matson D, Crofton FDL. Papilloma of the choroid plexus in childhood. J Neurosurg 1960;17:1002-1027.

[9] 9. Molina JA, Mateos F, Merino M, Epifanio JL, Gorrõno M. Aicardi syndrome in two sisters. J Pediatr 1989;115:282-283.

[10] 10. Ohsuka Y, Oka E, Terasaki T, Ohtahara S. Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 1993;34: 627-634.

[11] 11. Robinow M, Johnson F, Minella PA. Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J Pediatr 1984; 104: 404-405.

[12] 12. Souza IE, Bale JF. The diagnosis of congenital infection: contemporary strategies. J Child Neurol 1995;10:271-282.

[13] 13. Swaiman KF. Pediatric neurology : principles and practice. Ed 2. Minneapolis 1994:349-442, 906-907.

[14] 14. Tachibana H, Matsui A, Takeshita K, Tamai T. Aicardi's syndrome with multiple papilloma of choroid plexus. Arch Neurol 1982;39.i94.

[15] 15. Willis J, Rosman NP. The Aicardi syndrome versus congenital infection: diagnostic considerations. J Pediatr 1980;96:235-239.

[16] 16. Yamagata T, Momoi M, Myiamoto S, Kobayashi S, Kamoshita S. Multi-institutional survey of the Aicardi syndrome in Japan. Brain Dev 1990;12:760-765.