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Chorioretinal Lacunae: Pathognomonic Findings for Aicardi Syndrome

2010; Slack Incorporated (United States); Volume: 47; Issue: 3 Linguagem: Inglês

10.3928/01913913-20100324-03

1938-2405

Silvana Guerriero, Vittorio Sciruicchio, Roberto De Blasi, Claudio Furino, Giuseppe Smaldone, Lorenza Ciracì, Dante Galeone,

Advanced Neuroimaging Techniques and Applications

Aicardi syndrome is characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. The authors describe the case of a girl with chorioretinal lacunae, seizures, and cerebral cyst, but a normal corpus callosum. Incomplete forms of Aicardi syndrome are reported in the literature, but typical choroidal lacunae are always present and are pathognomonic.