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content:aicardi_syndrome [2020/02/13 13:01] – [Genetics] icna | content:aicardi_syndrome [2022/04/29 23:58] – [Genetics] administrator@icnapedia.org | ||
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====== Aicardi syndrome ====== | ====== Aicardi syndrome ====== | ||
- | {{page> | + | A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. |
- | A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. | + | |
===== Clinical features ===== | ===== Clinical features ===== | ||
* **Agenesis of the corpus callosum** | * **Agenesis of the corpus callosum** | ||
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* The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome | * The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome | ||
==== Genetics ==== | ==== Genetics ==== | ||
- | Nearly all reported cases of Aicardi syndrome are sporadic and in females. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition[{{ : | + | * Nearly all reported cases of Aicardi syndrome are sporadic and in females |
+ | * Aicardi syndrome is classified as an X-linked dominant condition[{{ : | ||
+ | * mutation in gene [[https:// | ||
=== Neuroimaging === | === Neuroimaging === | ||
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* The 5-, 10- and 20-year survival rates are 90%, 80% and 50%, respectively[(: | * The 5-, 10- and 20-year survival rates are 90%, 80% and 50%, respectively[(: | ||
=== History === | === History === | ||
- | This disorder was first recognized as a distinct syndrome in 1965 by [[Jean Aicardi]], | + | |
+ | In 1965 French pediatric neurologist and epileptologist | ||
===== References ===== | ===== References ===== | ||
- | ~~REFNOTES cite~~ | + | ~~REFNOTES cite~~ |
- | | + |