Background: Aicardi syndrome is a rare , genetically determinated condition. Most of describe in literature patients are female because the syndrome is X-linked. The Xp22.2-Xp22.3 deletion is lethal
for male fetus. The diagnosis of Aicardi syndrome is usualy established between the age of 3 to 5 months of child’s life; the characteristic features of the syndrome are: female sex (extremely
rare the syndrome occurs in 47,XXY males), infantile spasms, lacunar chorioretinopathy, partial or complete agenesis of corpus callosum. Moreover: central nervous system, eyes and vertebrocostal malformations, psychomotor retardation, typical eeg tracing (“split-brain” EEG) are present.Case Report: The authors present two girls with clinical features of Aicardi syndrome. In both ceses we observed characteristic phenotypic features, developmental delay, seizures (mioclonic, infantile spasms, tonic, partial motor), eyes, costovertebral and CNS malformations (agenesis of corpus callosum and others). As we administered anti-epileptic treatment we reached the reduction of number of seizures. In spite of rehabilitation psychomotor development of our patients is still delayed.Conclusions: The epileptic seizures (mioclonic at onset, then infantile spasms , tonic and partial) at the age between 3 – 5 months of child’s life in a girl with dysmorphic features and malformations of brain, eyes and/or bones suggests the diagnosis of Aicardi syndrome. The prognosis varies depending upon the efected child’s overall health, but is unfavourable as to psychomotor development and antiepileptic treatment efficacy. As Aicardi syndrome may be associated withmalignant neoplasms the patients should be under thorough observation.

Keywords: Aicardi syndrome, corpus callosum agenesis, eyes malformations, infantile spasms