Aicardi syndrome

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Aicardi Syndrome

Aicardi syndrome (pronunciation: ay-CAR-dee sin-drome) is a rare genetic disorder that primarily affects newborn girls. The condition is characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, which connects the two halves of the brain.

Etymology

The syndrome is named after the French neurologist, Dr. Jean Aicardi, who first described the condition in 1965.

Symptoms

The hallmark features of Aicardi syndrome are agenesis of the corpus callosum, specific chorearetinal abnormalities, and severe seizures that begin in infancy. Other features can include other brain abnormalities, such as microcephaly (small head size), and cysts in the brain. Affected individuals may also have distinctive facial features, scoliosis (curvature of the spine), and hand deformities.

Causes

Aicardi syndrome is thought to result from a mutation in an as-yet unidentified gene on the X chromosome. Because the condition primarily affects females, it is suspected to be an X-linked dominant condition.

Diagnosis

Diagnosis of Aicardi syndrome is based on clinical findings, including the characteristic triad of symptoms. Magnetic resonance imaging (MRI) can be used to identify the absence or underdevelopment of the corpus callosum and other brain abnormalities.

Treatment

There is currently no cure for Aicardi syndrome. Treatment is symptomatic and supportive, and may include antiepileptic drugs to control seizures, physical therapy to improve motor skills, and special education services to address developmental delays.

Prognosis

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

See also

External links

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