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Aicardi Syndrome With Probable Intraorbital Cystic Encephalocele

Journal of Perinatology volume 22, pages 93–94 (2002)Cite this article

The ophthalmologic examination demonstrated a chorioretinopathy thought to be characteristic of Aicardi syndrome. The cranial findings of midline cyst with agenesis of the corpus callosum and the electroencephalographic findings all supported this diagnosis. The cystic lesion in the orbit was felt to be a cystic encephalocele.

Aicardi syndrome is an X-linked dominant condition consisting of the triad of agenesis of the corpus callosum, infantile spasms with characteristic EEG findings, and chorioretinal lacunae of hypopigmentation.1 Infantile spasms have their onset most frequently in the neonatal period, but always by 24 weeks of age.2 They are associated with multifocal epileptiform abnormality on a severely disordered background. Although seizure frequency may decrease with time, the seizures may also be intractable. The chorioretinal atrophy is pathognomonic with hypopigmented or apigmented retinal epithelium in lacunae most marked around the papilla.3

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References

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway Boulevard, St. Louis, MO, USA

    Thomas E Herman MD & Marilyn J Siegel MD

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  1. Thomas E Herman MD
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  2. Marilyn J Siegel MD
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Herman, T., Siegel, M. Aicardi Syndrome With Probable Intraorbital Cystic Encephalocele. J Perinatol 22, 93–94 (2002). https://doi.org/10.1038/sj.jp.7210588

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