Document Detail


Neuroimaging aspects of Aicardi syndrome.
MedLine Citation:
PMID:  18925666     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 underopercularization. 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.
Authors:
Bobbi Hopkins; V Reid Sutton; Richard Alan Lewis; Ignatia Van den Veyver; Gary Clark
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-11-04     Completed Date:  2008-12-10     Revised Date:  2013-04-02    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2871-8     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  genetics*
Brain / abnormalities*
Central Nervous System Cysts / genetics
Cerebellum / abnormalities
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Malformations of Cortical Development / genetics
Periventricular Nodular Heterotopia / genetics
Syndrome
Grant Support
ID/Acronym/Agency:
HD024064/HD/NICHD NIH HHS; R21 HD051805/HD/NICHD NIH HHS; R21 HD051805/HD/NICHD NIH HHS; R21 HD051805-02/HD/NICHD NIH HHS
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