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

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.

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] .…”

Choroid plexus papilloma and Aicardi syndrome: case report

“…The diagnosis of the tumors was made only after MRI. In the majority of cases reporting association of Aicardi disease and choroid plexus papilloma, the tumor was located in only one ventricle 2,4,6,7 . Tackibana et al 3 described a case in which the tumors occupied the right lateral and the third ventricles.…”

“…The clinical/radiological manifestations of the Aicardi syndrome 1 , initially described as a triad of infantile spasms, total or partial agenesis of the corpus callosum and retinal changes, now include periventricular and subcortical heterotopias, choroid plexus cysts and tumors, colobomas, skeletal changes of vertebrae and ribs, microphthalmia, cerebral hemispheres asymmetry, cortical gyrus changes, tumors outside of CNS and cranialfacial alteration. A review of the literature [2][3][4][5][6][7] revealed ten cases in which the disease manifested in association with choroid plexus papilloma. These numbers should increase when children with Aicardi syndrome are routinely submitted to TC and/ or MRI.…”

“…The association of Aicardi syndrome and choroid plexus papilloma has been reported in the literature (ten cases having already been described [2][3][4][5][6][7] ). This association is rare, nevertheless it may be regarded as an integral part of the disease 2,3 . In this paper we present the case of a child diagnosed with Aicardi syndrome and choroid plexus papilloma in multiple location (lateral and third ventricles) treated by several surgeries.…”

“…[2][3][4][5][6][7] , choroid plexus cysts 7 . The association of Aicardi syndrome and choroid plexus papilloma has been reported in the literature (ten cases having already been described [2][3][4][5][6][7] ). This association is rare, nevertheless it may be regarded as an integral part of the disease 2,3 .…”