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--- content:aicardi_syndrome [2020/02/13 13:27] – [References] icna
+++ content:aicardi_syndrome [2020/02/23 00:49] – icna
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 ====== Aicardi syndrome ======
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 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 =====
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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
 ==== 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[{{ :content:xlinkdominant.jpeg?300|Credit:U.S National Library of Medicine}}. In 2015 mutation in gene [[https://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1|TEAD1]] was found to be associated with Aicardi syndrome[(:cite:>{{pubmed>long:26091538}})]. This was the first genetic mutation associated with Aicardi syndrome to be reported. This study also found that TEAD1 mutations may be present in males.
+  * Nearly all reported cases of Aicardi syndrome are sporadic and in females and believed to result from new gene mutations
+  * Aicardi syndrome is classified as an X-linked dominant condition[{{ :content:xlinkdominant.jpeg?300|Credit:U.S National Library of Medicine}}.
+  * mutation in gene [[https://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1|TEAD1]] was the first genetic mutation reported to be associated with Aicardi syndrome[(:cite:26091538>{{pubmed>long:26091538}})]. TEAD1 mutations has also been shown to be present in males[(:cite:26091538>{{pubmed>long:26091538}})].
 === Neuroimaging ===
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 === History ===
-In 1965 French pediatric neurologist and epileptologist [[https://icnapedia.org/news/professor-jean-aicardi-1926-2015|Jean Aicardi]] described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities[(:cite:aicardi>Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19:609-610)]. Further 7 patients were described in 1969 and the name "Aicardi syndrome" was established in 1972, by Dennis and Bower[(:cite:4624502>{{pubmed>long:4624502}})].
+In 1965 French pediatric neurologist and epileptologist [[https://icnapedia.org/news/professor-jean-aicardi-1926-2015|Jean Aicardi]] described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities[(:cite:aicardi>Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19:609-610)]. Further 7 patients were described in 1969[(:cite:4314028>{{pubmed>long:4314028}})] and the name "Aicardi syndrome" was established in 1972, by Dennis and Bower[(:cite:4624502>{{pubmed>long:4624502}})].
 ===== References =====
 ~~REFNOTES cite~~