Aicardi syndrome
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
- Corpus callosum
- X-linked dominant
- Agenesis
- Chorioretinal
- Seizures
- Microcephaly
- Cysts
- Scoliosis
- Hand deformities
- Magnetic resonance imaging
- Antiepileptic drugs
External links
- Medical encyclopedia article on Aicardi syndrome
- Wikipedia's article - Aicardi syndrome
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