syndrome occurs in females. Aicardi syndrome consists of the association
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
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.
of the corpus callosum
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.
Characteristic ultrasonographic features of agenesis of the corpus callosum.
Top row: brain ultrasound; bottom row: MRI.