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content:aicardi_syndrome [2020/02/13 12:25] – [Clinical features] icna | content:aicardi_syndrome [2022/04/30 00:05] (current) – 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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**Seizures** | **Seizures** | ||
- | Infantile spasms are the most characteristic seizure type in Aicardi syndrome[(: | + | Infantile spasms are the most characteristic seizure type in Aicardi syndrome[(: |
**Chorioretinal lacunae** | **Chorioretinal lacunae** | ||
[{{ : | [{{ : | ||
- | Central Chorioretinal lacunae (CRL) represent a defect of the pigment epithelium and choroid. CRL are pathognomonic for Aicardi syndrome and are seen in all patients (see figure[(: | + | Central Chorioretinal lacunae (CRL) represent a defect of the pigment epithelium and choroid. CRL are pathognomonic for Aicardi syndrome and are seen in all patients (see figure[(: |
Optic nerve anomalies are present in the majority of affected individuals, | Optic nerve anomalies are present in the majority of affected individuals, | ||
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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. | ||
- | Other abnormalities reported include hemivertebrae, | + | Other abnormalities reported include hemivertebrae, |
==== Diagnostic criteria ==== | ==== Diagnostic criteria ==== | ||
- | Sutton et al. (2005) proposed the following modified diagnostic criteria[(: | + | Sutton et al. (2005) proposed the following modified diagnostic criteria[(: |
* The presence of all three classical features (classic triad) is diagnostic for Aicardi syndrome | * The presence of all three classical features (classic triad) is diagnostic for 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 | * 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 and believed to result from new gene mutations | ||
+ | * Aicardi syndrome is classified as an X-linked dominant condition[{{ : | ||
+ | * mutation in gene [[https:// | ||
+ | === Neuroimaging === | ||
+ | Abnormalities identified on MRI are characteristically[(: | ||
+ | |||
+ | * polymicrogyria that was predominantly frontal and perisylvian and often associated with underopercularization | ||
+ | * Periventricular nodular heterotopias | ||
+ | * single or multiple intracranial cysts | ||
+ | * Cerebellar abnormalities | ||
+ | * tectal enlargement | ||
+ | |||
+ | === Differential Diagnosis === | ||
+ | * [[Oculocerebrocutaneous syndrome]] | ||
+ | * [[Neuronal migration disorders]] | ||
=== Treatment === | === Treatment === | ||
+ | * seizure management. Seizures are often refractory | ||
+ | * physical, occupational, | ||
+ | * vision | ||
+ | * management of vertebral abnormalities including scoliosis | ||
+ | === Prognosis === | ||
+ | * majority of children are unable to sit independently, | ||
+ | * The 5-, 10- and 20-year survival rates are 90%, 80% and 50%, respectively[(: | ||
+ | === History === | ||
- | == Prognosis == | + | In 1965 French pediatric neurologist and epileptologist [[https:// |
+ | [(: | ||
- | History | ||
===== References ===== | ===== References ===== | ||
- | ~~REFNOTES cite~~ | + | ~~REFNOTES cite~~ |
- | | + |