Choroid plexus papilloma and Aicardi syndrome: case report

Abstract

-A case of Aicardi syndrome associated with a choroid plexus papilloma of the third and both lateral ventricles in a 15 months old baby girl is repported. The tumor was completely removed via three craniotomies. Reports of the literature with the association of choroid plexus papilloma and Aicardi syndrome are rare. We suggest that children diagnosed with Aicardi syndrome should routinely undergo imaging studies of the brain, such as computed tomography or magnetic resonance.KEY WORDS: Aicardi syndrome, choroid plexus papilloma, hydrocephalus, corpus callosum agenesis.Papiloma do plexo coróideo e síndrome de Aicardi: relato de caso RESUMO -Relatamos o caso de uma criança com 15 meses de idade, portadora da síndrome de Aicardi associada a tumores nos ventrículos laterais e terceiro ventrículo (papilomas) que foram retirados cirurgicamente através de três craniotomias. A ocorrência de papiloma do plexo coróideo associada à sindrome de Aicardi é raramente descrita na literatura. Sugerimos que as crianças portadoras da síndrome de Aicardi sejam rotineiramente submetidas a estudo radiológico do encéfalo através da tomografia computadorizada ou ressonância nuclear. PALAVRAS-CHAVE: síndrome de Aicardi, papiloma do plexo coróideo, hidrocefalia, agenesia do corpo caloso.

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination

“…Furthermore, about 20% of individuals have also been reported to have an increased susceptibility to various skin lesions (multiple nevi, skin tags, hemangiomas, one giant melanotic nevus, and angiosarcoma) (Sutton et al, ). The incidence of tumors may also be increased in AIC, with the most common being choroid plexus papillomas (Pianetti Filho, Fonseca, & da Silva, ; Taggard & Menezes, ). Other types of malignancies previously described includes lipomas, angiosarcomas, hepatoblastomas, intestinal polyposis, embryonal carcinomas, and large‐cell medulloblastoma (Kamien & Gabbett, ; Palmer, Nordborg, Steneryd, Aman, & Kyllerman, ; Sutton et al, ).…”

Papillomas and carcinomas of the choroid plexus: histological and immunohistochemical studies and comparison with normal fetal choroid plexus

“…Choroid plexus tumors are infrequent (0.4-1% of central nervous system (CNS) tumors) [1][2][3][4][5] and their immunohistochemical pattern is still controversial, in part due to the paucity of cases available for study, particularly among the malignant variants. Choroid plexus cells are truly epithelial in nature as demonstrated by ultrastructural and immunohistochemical studies [6][7][8][9][10][11][12][13][14][15] .…”

Early Second-Trimester Spontaneous Miscarriage Due to Fourth Ventricle Choroid Plexus Papilloma

“…CPP whilst uncharacteristic of TS, is characteristic of another syndrome, which has been reported to coexist with TS in some cases and a prominent cause for miscarriage-Aicardi syndrome (AS) [4,5]. AS is a rare X-linked genetic syndrome with a yet unidentified cause, resulting in a number of tumors in different locations in the fetal, neonatal and early childhood period, the most prominent of which is CPP.…”