Aicardi Syndrome is a genetic disorder characterized by the absence of one of the most important structures of the brain known as the corpus callosum, which leads to retinal abnormalities and seizures in the form of infantile spasms. A theory claimed that it is the defect of X chromosome. The basis of a mutation in the Aicardi syndrome has not been identified despite the effort of several laboratories.
It is generally present in one member of the family, generally in girls so it is thought to be a dominant disorder. The main problems associated with Aicardi syndrome are Agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms.
Signs and symptoms -
Children below the age of five months are generally affected with Aicardi syndrome. Aicardi syndrome generally affects the girls, till 3-4 months they appear normal but after 5-6 months infantile spasms start by which we can diagnose Aicardi syndrome.
- After the age of 5 months, infantile spasm starts appearing.
- Presence of hole or gap in one of the structures of eye condition known as coloboma.
- Abnormally small eyes.
- Size of the head becomes abnormally small.
- Deformities of hands and feet.
- Intellectual disabilities.
- Delay of development of child mentally and physically.
- Difficulty in eating.
- Diarrhea and constipation.
There are some additional symptoms associated with this disease like rib and spine abnormalities (scoliosis, kyphosis, lordosis), in children's abnormal facial features, such as a flatter nose, large ears, poorly developed eyes that leads to blindness.
What causes Aicardi syndrome?
Aicardi syndrome is commonly present in females or buys with Klinefelter syndrome in, which male has an extra copy of X chromosome, for this reason, scientists believe the disorder is caused by a defect on X chromosome.
In each cell in every person, 46 chromosomes are present. Two of them are sex chromosomes, called X and Y, because of them we recognize the difference between male and female. Females have 2 X chromosome and males have one X and one Y chromosome in normal condition.
During the normal development of child there should be only one active X chromosome in each cell but in case of Aicardi syndrome deactivation of the X chromosome fails to alternate.
Diagnosis of Aicardi syndrome -
Aicardi syndrome usually diagnoses based on the symptoms. As in this disease, different symptoms are present in children's so different kinds of tests are needed to diagnose the disease.
- In case of blindness, eye exams are needed.
- EEG by which we can evaluate the electrical activity of the brain.
- MRI or CT scans which provide the images of the brain and facial department and sometimes X rays are done in case of deformities of bones like in spine.
Treatment options -
There is no cure for Aicardi syndrome at present; however, we can manage some symptoms by treatment. The most common treatment method used at present is controlling seizures and spasm of the body. Doctors in these fields may be consulted based on different symptoms: