Aguiar M D, Cavalcanti M, Barbosa H, Vilela S L, Mendonça J L, Horta E
Neuropediatra do Hospital de Base do Distrito Federal, Brasil.
Arq Neuropsiquiatr. 1996 Jun;54(2):313-7. doi: 10.1590/s0004-282x1996000200022.
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.
作者报告了一例5个月大的女童，具有艾卡里迪综合征的临床特征：胼胝体发育不全、眼部异常（“脉络膜视网膜缺损”和小眼畸形）、婴儿痉挛、智力迟钝、脊柱畸形和胸廓畸形。该患者接受了辅助检查，确诊了病情。神经放射学图像（MRI）显示，除了胼胝体发育不全外，还在左心室心房发现了一个肿瘤（脉络丛乳头状瘤）。这种关联很少见，本病例是文献中描述的第七例。此外，我们认为脉络丛乳头状瘤可能是艾卡里迪综合征的一种特征性肿瘤。
