What is Aicardi Syndrome









What Causes Aicardi Syndrome
Features of Aicardi Syndrome
Aicardi syndrome is classically defined in over 90% of cases by three cardinal features:
- Agenesis of the corpus callosum;
- Chorioretinal lacunae; and
- Infantile spasms.
In 1999, the diagnostic spectrum of Aicardi syndrome was broadened to include patients with present, but usually abnormal, corpus callosum or absence of infantile spasms or lacunae, if other typical brain abnormalities are present. Specifically, the revised criteria were expanded to include two classic features plus at least two other major or supporting features. Retinal lacunae and seizures are present in all, or almost all, of the cases. Major and supporting features include:
Major Features
- Cortical malformations (mostly polymicrogyria);
- Periventricular and subcortical heterotopia;
- Cysts around third cerebral ventricle and/or choroid plexus;
- Papillomas of choroid plexuses; and/or
- Optic disc/nerve coloboma.
Supporting Features
- Vertebral and costal abnormalities;
- Microphthalmia or other eye abnormalities;
- “Split-brain” EEG; and/or
- Gross cerebral hemispheric asymmetry.
Involvement of other organ systems besides the brain and eyes are also common but the signs and symptoms are not part of the diagnostic criteria and are not present in all cases. These include:
- Vascular malformations or vascular malignancy;
- Microcephaly;
- Hypotonia;
- Spasticity or hypertonia;
- Scoliosis;
- Prominent premaxilla;
- Cleft lip or palate;
- Gastroesophageal reflux;
- Feeding problems;
- Small or malformed hands;
- Precocious or delayed puberty; and/or
- Global developmental disabilities.
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