Aicardi Syndrome (AS) affects thousands of people across the world with around 900 people in U.S annually suffering from the condition. Read on to know all about the causes, symptoms, diagnosis and treatment of this rare disorder.
What is Aicardi Syndrome?
Aicardi Syndrome is a rare genetic disorder that occurs mainly in females. The disease got its name from Dr. Aicardi, the scientist who studied AS and its symptoms in 1965. The condition is primarily characterized by partial or total absence of the Corpus Callosum (an important part of human brain that connects the two halves), childhood seizure and presence of lesions in the retina.
Aicardi Syndrome Synonyms
The disorder is known by various other names like:
- Agenesis of Corpus Callosum with Infantile Spasms and Ocular Anomalies
- Agenesis of Corpus Callosum with Chorioretinitis Abnormality
- Chorioretinal Anomalies with ACC
- Callosal Agenesis and Ocular Abnormalities
- Corpus Callosum, Agenesis of and Chorioretinal Abnormality
Causes of Aicardi Syndrome
The cause of this disease is still unknown. According to some scientists, the disorder occurs due to a genetic impairment on the X chromosome. Mutations are also held responsible for the development of this genetic defect. This disease may occur in males with 47 chromosomes (including an extra XXY chromosome complement). However, the chances of occurrence of this condition are rare among males. The occurrence of an extra chromosome in males is known as Klinefelter syndrome.
Aicardi Syndrome Symptoms
This condition is typically characterized by a number of symptoms and thus, can easily be recognized. The symptoms arise during infancy itself. Read and learn about some of the commonly noticed symptoms of this disease:
Development of retinal lesions
A typical symptom of the disease is the appearance of lesions on the retina of the eye. This occurrence of retinal lesions is known as Chorioretinal Lacunae and is used for the confirmation of the disorder.
Picture 1 – Aicardi Syndrome
The eyes of a child suffering from AS appear to be smaller than usual. Due to retinal lesions and smaller eye size, an AS-affected child faces vision problems.
Infantile spams (seizures) are also common in this syndrome. They mark the primary stage of AS.
Inability to move freely
In some cases, abnormalities in the ribs or spinal cord are also been noticed. In such cases, an affected child is not able to move freely and becomes irritated.
Absence of Corpus Callosum
The absence of an important brain structure, called Corpus Callosum, is another typical symptom of this disease. The Corpus Callosum is responsible for connecting the two halves of the brain.
A number of other brain disorders are also noticed in a child suffering from AS. As the child grows, he/she faces difficulties while learning and interacting with others.
Abnormalities in facial symmetry
In some cases, the disease also impacts the facial symmetry and causes it to become disorganized.
Aicardi Syndrome Diagnosis
As already said, this disease is associated with some unique, rare and typical symptoms like spasms, lesions on the retina and partly or completely missing Corpus Callosum. Due to this reason, a number of diagnostic methods are used for the detection of this syndrome.
Picture 2 – Aicardi Syndrome Image
The process involves using an ophthalmoscope to detect the abnormalities of the retina. In case a child is suffering from AS, the device can easily show the presence of yellow- white lesions on the retina.
MRI scans may be performed to detect the absence of Corpus Callosum and also determine the presence of any other brain abnormality associated with the disease.
Other diagnostic techniques implemented for detection of the disease include EEG and CT scans of the head.
Aicardi Syndrome Treatment
As of now, the condition has no cure. There is no permanent cure for this syndrome as yet. Treatment merely aims at controlling the symptoms of the disorder. Doctors typically prescribe drugs like Vigabatrin or Corticosteroids to prevent the occurrence of seizures or spasms in suffering children. The condition might be improved by providing affected kids with physical and motivational support. In some cases, children might succeed in walking without any support and communicating with others. However, the extent of improvement tends to differ from one case to another and depend on the severity of the syndrome as well as the behavioral therapy provided to the child.
Aicardi Syndrome Prognosis
The prognosis of this disorder varies from patient to patient. The outcome mainly depends on the intensity of symptoms. The occurrence of this disease is noticed between people of all ages ranging from infants to 40-year olds. As already said, a permanent cure for this disease is yet to be discovered.
Aicardi Syndrome Life Expectancy
For AS patients, life expectancy can be limited severely. Most of the children suffering from this syndrome have reduced lifespan due to associated respiratory and skeletal problems. Many patients have premature death due to pulmonary infections.
Aicardi Syndrome Foundation
It is a non-profit organization that provides support and information to children diagnosed with AS and their caregivers. The institution arranges for contribution to AS sufferers and strives to raise awareness of this disease. Its registered address is:
Aicardi Syndrome Foundation
Al and Cindy Meo
P.O. Box 3202
St. Charles, IL 60174
Aicardi Syndrome Pictures
Check out these images to know how people affected with AS look like. You may find these pictures quite useful for reference.
Aicardi Syndrome is a rare disease in the sense that most people have not heard about the condition. Due to this, the condition tends to be diagnosed at a later time than it normally should be. If you note developmental delays or any of the AS symptoms in your child, get in touch with an expert medical care provider and carry out a proper diagnosis of the disorder.