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Aicardi syndrome.

Jean Aicardi1

  • 1Hôpital Robert Debré, 48 Boulevard Sérurier, 75935 Paris Cedex 19, France. jean.aicardi@free.fr

Brain & Development
|March 2, 2005
PubMed
Summary

Aicardi syndrome (AS) is a severe genetic disorder affecting individuals with two X chromosomes, characterized by brain and eye abnormalities. While typically resulting in poor outcomes, a broader spectrum of AS presentation exists, including milder cognitive impairments.

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Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Aicardi syndrome (AS) is a rare genetic disorder typically presenting with agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae.
  • It exclusively affects individuals with two X chromosomes and is generally associated with severe morbidity, high early mortality, and poor developmental outcomes.

Purpose of the Study:

  • To delineate the broader spectrum of Aicardi syndrome beyond the classic triad.
  • To identify and characterize novel and significant features associated with AS.
  • To explore the genetic underpinnings and potential X-linked inheritance patterns of AS.

Main Methods:

  • Review of clinical case reports and genetic studies on Aicardi syndrome.
  • Analysis of brain imaging (MRI) and ophthalmological findings in affected individuals.
  • Genetic analysis and locus mapping studies.

Main Results:

  • AS presents a broader spectrum than previously recognized, with some affected individuals exhibiting moderate to mild intellectual disability.
  • Complex brain malformations including cortical migration abnormalities, cystic formations, and choroid plexus papillomas are noted.
  • Ocular anomalies extend beyond lacunae to include coloboma, and focal seizures are more common than infantile spasms.

Conclusions:

  • Aicardi syndrome encompasses a wider range of clinical presentations and associated anomalies than the classic triad suggests.
  • The occurrence of AS in XXY males supports an X-linked lethal gene hypothesis for male fetuses.
  • Current treatment for Aicardi syndrome remains symptomatic, highlighting the need for further research into its genetic basis and potential therapeutic targets.

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