Aicardi

Aicardi syndrome is a rare genetic disorder characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. The syndrome is named after Jean Aicardi, a French neurologist who first described the condition in 1965.

Symptoms and signs

The symptoms of Aicardi syndrome can vary greatly from one individual to another. However, the three main features of the syndrome are:

• Agenesis of the corpus callosum: This is the partial or complete absence of the corpus callosum, the part of the brain that connects the two cerebral hemispheres.
• Retinal abnormalities: These are often in the form of lacunae, or holes, in the retina, the light-sensitive tissue at the back of the eye.
• Infantile spasms: These are a specific type of seizure that occurs in infancy and early childhood.

Other symptoms can include other types of seizures, developmental delay, intellectual disability, and physical abnormalities such as rib and spine abnormalities (vertebral anomalies), small hands and feet, and, less commonly, other brain malformations.

Causes

Aicardi syndrome is believed to be caused by a mutation in a gene that has not yet been identified. It is thought to occur as a new (de novo) mutation, which means it occurs spontaneously and is not inherited from either parent.

Diagnosis

The diagnosis of Aicardi syndrome is typically based on the clinical features and diagnostic imaging findings. Magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain can reveal the absence or underdevelopment of the corpus callosum and other brain abnormalities.

Treatment

There is currently no cure for Aicardi syndrome, and treatment is symptomatic and supportive. This may include antiepileptic drugs to control seizures, physical therapy to help with motor skills and coordination, and special education services for developmental delays.

Prognosis

The prognosis for individuals with Aicardi syndrome varies. Some individuals have a normal lifespan and others may have a shortened lifespan due to complications such as severe seizures and pneumonia.

See also

• List of genetic disorders
• List of neurological conditions and disorders