Abstract
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.
Keywords
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Article Info
Publication History
Accepted:
November 11,
2003
Received in revised form:
November 11,
2003
Received:
June 2,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
