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Aicardi syndrome: when to suspect the unexpected Volume 18, issue 2, June 2016

Aicardi syndrome: when to suspect the unexpected


Case study

We report a 30-year-old woman who started experiencing infantile spasms at the age of two months; global developmental delay was noted shortly afterwards. Brain MRI revealed multiple malformations of cortical development and agenesis of the corpus callosum (figures 1, 2), while EEG showed multiple independent spike foci and asymmetric slow background activity. Aicardi syndrome was suspected and subsequently confirmed when chorioretinal lacunae were identified on fundus examination.

Aicardi syndrome should be suspected in patients who present with infantile spasms and/or intractable epilepsy and agenesis of the corpus callosum, either partial or complete. Following clinical suspicion, ophthalmologic examination should be performed to confirm this diagnosis (Aicardi et al., 1965; Aicardi, 2005; Hopkins et al., 2008).

None of the authors have any conflict of interest to declare.


References

 Aicardi J. Aicardi syndrome. Brain Dev 2005; 27(3): 164-71.

 Aicardi J, Levebre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965; 19: 609-10.

 Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark GD. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A 2008; 146A: 2871-8.

 

Figure legends

Figure 1.

T1-weighted sagittal brain MRI demonstrating partial agenesis of the corpus callosum; the genu and rostrum structures are absent (white arrow), while the body and a small portion of the anterior splenium are present.

Aicardi syndrome

Figure 2.

T1-weighted axial brain MRI showing heterotopic grey matter along the left lateral ventricle compatible with periventricular or subependymal heterotopia (arrow in (A)), and a closed-lip schizencephaly (small arrow in (B)), lined by polymicrogyric cortex and additional, more frontal polymicrogyria involving the posterior left frontal lobe (arrowhead in (C)).

Aicardi syndrome