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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

A B C

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.

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Behrman, 1996 central sulcus large occipital horn of the lateral ventricle large occipital horn of the lateral ventricle interhemispheric cyst cerebellum choroid plexus choroid plexus colpocephaly colpocephaly multiloculated interhemispheric cyst tip of the lateral ventricle far from the other tip and pointing up tip of the lateral ventricle far from the other tip and pointing up tip of the laterall ventricle far from the other tip and pointing up tip of the lateral ventricle far from the other tip and pointing up sulci reaching the thalamic area medial hemispheric sulci reaching the thalamic area colpocephaly with anteriorly pointed  tip of the lateral ventricle colpocephaly with anteriorly pointed tip of the lateral ventricle colpocephaly with anteriorly pointed tip of the lateral ventricle colpocephaly with anteriorly pointed tip of the lateral ventricle Click on figure for animated labels.  Pause pointer on different areas of the figure for labels. Figure must be centered. more about the corpus callosum Would you like to see pathology? lacunar lesion lacunar lesion lacunar lesion Click on figure for animated labels.  Pause pointer on different areas of the figure for labels. Figure must be centered.