Aicardi Syndrome
Aicardi syndrome occurs in females. Aicardi syndrome consists of the association of agenesis of the corpus callosum, lacunar chorioretinopathy (Figure 281.1), and periventricular heterotopias. Aicardi syndrome usually manifests with seizures in the neonatal period. The EEG in most neonates shows a burst-suppression pattern arising independently and asynchronous from each hemisphere. Severe mental retardation, infantile spasms, and hypsarrhythmia usually develop during the first months of life. It is an X-linked dominant disorder that is lethal in males.More about... 52

Figure 281.1.— MRI of the brain in a neonate with Aicardi syndrome: [A] agenesis of the corpus callosum and interhemispheric cyst; [B] colpocephaly and interhemispheric cyst; [C] lacunar chorioretinopathy.

Agenesis of the corpus callosum
Agenesis of the corpus callosum may be associated with microcephaly. The diagnosis of agenesis of the corpus callosum is detected by brain ultrasound and confirmed by MRI of the brain (Figure 281.3). Agenesis of the corpus callosum may be associated with cortical abnormalities. The EEG usually shows interhemispheric asynchrony. The corpus callosum can be recognized by fetal ultrasound by around 18 to 22 weeks of conception.

Figure 281.3.— Characteristic ultrasonographic features of agenesis of the corpus callosum. Top row: brain ultrasound; bottom row: MRI.