[Clinical outcome of distinct Aicardi syndrome phenotypes].

OBJECTIVE Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other cases of Aicardi Syndrome described in the world literature. METHODS We have reported the three cases of Aicardi Syndrome and detailed the important heterogeneity of phenotypic features and clinical severity. RESULTS The most benign case (case number 1) was characterized by mild ocular morbidity, absence of both migration abnormalities and epilepsy, and normal psychomotor development. Case number 2 achieved long-term survival with mild ocular alterations, but had severe retardation in psychomotor development. Case number 3 had the most severe ocular abnormalities which evolved rapidly and resulted in early death. CONCLUSIONS Aicardi Syndrome can be phenotypically heterogeneous, presenting with substantial variability in the severity of clinical features such as psychomotor development and survival. Our study indicates that cortical migration abnormalities and retinal lesions may be useful prognostic factors.