Document Detail


Aicardi syndrome.
MedLine Citation:
PMID:  15737696     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the spectrum of AS seems broader than previously defined with a small proportion of the affected girls only moderately or mildly retarded. Several novel and important features should be added to the classic triad. The brain malformation is complex with cortical migration abnormalities, often cystic formations and sometimes choroid plexus papillomas; the eye anomalies, often feature a coloboma in addition to the lacunae, and focal seizures rather than spasms, are common. AS has been reported in 2 boys, both with an XXY complement, supporting the hypothesis of an X-linked gene lethal early in pregnancy for male conceptuses. A locus at Xp22.3 has been suggested but has not been confirmed. Treatment is only symptomatic.
Authors:
Jean Aicardi
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Brain & development     Volume:  27     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-03-01     Completed Date:  2005-05-03     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  164-71     Citation Subset:  IM    
Affiliation:
Hôpital Robert Debré, 48 Boulevard Sérurier, 75935 Paris Cedex 19, France. jean.aicardi@free.fr
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MeSH Terms
Descriptor/Qualifier:
Choroid Diseases* / congenital
Corpus Callosum* / abnormalities
Female
Humans
Infant, Newborn
Male
Pregnancy
Retinal Diseases* / congenital
Spasms, Infantile* / congenital

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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