Aicardi Syndrome is a rare genetic disease that is characterized by the partial or total absence of the corpus callosum, an important part of the brain that makes the connection between the two cerebral hemispheres, convulsions and problems in the retina.
The cause of Aicardi Syndrome is related to genetic alteration on the X chromosome and, therefore, this disease mainly affects women. In men, the disease can arise in patients with Klinefelter Syndrome because they have an extra X chromosome, which can cause death in the first months of life.
Aicardi syndrome has no cure and life expectancy is reduced, with cases in which patients do not reach adolescence.
Symptoms of Aicardi Syndrome
Symptoms of Aicardi Syndrome can be:
- Convulsions; Mental retardation; Delayed motor development; Injuries to the retina of the eye; Malformations of the spine such as: spina bifida, fused vertebrae or scoliosis; Difficulties in communicating; Microphthalmos resulting from the small size of the eye or even absence.
Seizures in children with this syndrome are characterized by rapid muscle contractions, with hyperextension of the head, flexion or extension of the trunk and arms, which occur several times a day from the first year of life.
The diagnosis of Aicardi Syndrome is made according to the characteristics presented by the children and neuroimaging exams, such as magnetic resonance or electroencephalogram, which allow the identification of problems in the brain.
Treatment of Aicardi Syndrome
Treatment of Aicardi Syndrome does not cure the disease, but it does help to reduce symptoms and improve patients' quality of life.
To treat seizures it is recommended to take anticonvulsant drugs, such as carbamazepine or valproate. Neurological physiotherapy or psychomotor stimulation can help to improve seizures.
Most patients, even with treatment, end up dying before the age of 6, usually due to respiratory complications. Survival over 18 years is rare in this disease.
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