Neuroimaging aspects of aicardi syndrome

Bobbi Hopkins, V. Reid Sutton, Richard Alan Lewis, Ignatia Van Den Veyver, Gary Clark

Research output: Contribution to journalArticlepeer-review


Aicardi syndrome is a rare neurodevelopmental disorder characterized by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral heterotopias, intracranial cysts, and costovertebral defects. Cerebellar abnormalities have been described occasionally. Aicardi syndrome is sporadic and has been observed only in females and 47,XXY males. Therefore, it is thought to result from a mutation in an X-linked gene. Improved definition of the clinical phenotype should focus the selection of functional candidate genes for mutation analysis. Because central nervous system abnormalities are the most prominent component of the phenotype, we performed a detailed characterization of abnormalities identified on magnetic resonance neuroimaging studies from 23 girls with Aicardi syndrome, the largest cohort to undergo such review by a single group of investigators. All patients had polymicrogyria that was predominantly frontal and perisylvian and often associated with under-opercularization. Periventricular nodular heterotopias, present in all patients, were more frequent than previously reported; 10 had single and 11 had multiple intracranial cysts. Posterior fossa abnormalities were also more frequent than previously described. Cerebellar abnormalities were noted in 95% of studies where they could be evaluated. As a novel finding, we noted tectal enlargement in 10 patients. Since mildly affected girls with variable callosal dysgenesis have now been reported, the constellation of frontal-dominant and perisylvian polymicrogyria, periventricular nodular heterotopias, intracranial cysts, and posterior fossa abnormalities, including tectal enlargement, should prompt consideration of the diagnosis of Aicardi syndrome. We further propose that improved characterization of the neurological phenotype will benefit the selection of candidate genes for mutation analysis.

Original languageEnglish (US)
Pages (from-to)2871-2878
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number22
StatePublished - Nov 15 2008
Externally publishedYes


  • Aicardi syndrome
  • Cerebellum
  • Corpus callosum
  • Heterotopias
  • Polymicrogyria
  • Tectum

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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