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| Aicardi syndrome is associated with distinctive facial features including prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. | Aicardi syndrome is associated with distinctive facial features including prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. |
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| Other abnormalities reported include hemivertebrae, block vertebrae, fused vertebrae, and missing, malformed or fused ribs[(:cite:4314028>{{pubmed>long:4314028}})] hand abnormalities including camptodactyly, proximal placement of the thumb, and hypoplasia of the fifth finger[(:cite:pmid2773986>{{pmid>long:2773986}})][(:cite:pmid16158440>{{pmid>long:16158440}})]. | Other abnormalities reported include hemivertebrae, block vertebrae, fused vertebrae, and missing, malformed or fused ribs[(:cite:4314028>{{pmid>long:4314028}})] hand abnormalities including camptodactyly, proximal placement of the thumb, and hypoplasia of the fifth finger[(:cite:pmid2773986>{{pmid>long:2773986}})][(:cite:pmid16158440>{{pmid>long:16158440}})]. |
| ==== Diagnostic criteria ==== | ==== Diagnostic criteria ==== |
| Sutton et al. (2005) proposed the following modified diagnostic criteria[(:cite:pmid16158440>{{pmid>long:16158440}})]: | Sutton et al. (2005) proposed the following modified diagnostic criteria[(:cite:pmid16158440>{{pmid>long:16158440}})]: |
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| === Neuroimaging === | === Neuroimaging === |
| Abnormalities identified on MRI are characteristically[(:cite:18925666>{{pubmed>long:18925666}})] | Abnormalities identified on MRI are characteristically[(:cite:18925666>{{pmid>long:18925666}})] |
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| * polymicrogyria that was predominantly frontal and perisylvian and often associated with underopercularization | * polymicrogyria that was predominantly frontal and perisylvian and often associated with underopercularization |
| === History === | === History === |
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| 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. | 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:pmid4314028>{{pmid>long:4314028}})] and the name "Aicardi syndrome" was established in 1972, by Dennis and Bower. |
| [(:cite:>{{pmid>long:4624502}})]. | [(:cite:pmid4624502>{{pmid>long:4624502}})]. |
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| ===== References ===== | ===== References ===== |
| ~~REFNOTES cite~~ | ~~REFNOTES cite~~ |
