What is Aicardi Syndrome?
Aicardi syndrome is a very infrequent kind of genetic congenital disorder wherein the corpus callosum that divides the two parts of the brain is mainly affected. It could either be that some key structure of the corpus callosum is missing some fragments or completely missing.
Image 1- Carpus Callosum in Aircardi Syndrome (Highlighted)
For over 105,000 to 167,000 babies that are born, about 1 baby is affected by the disorder. Researchers discovered that Aicardi syndrome is said to be caused by a certain fault on the X chromosome. Although the disorder seems to occur mostly in females, a study had proven that males having Klinfelter syndrome; a disorder wherein the male has one extra X chromosome, most-likely develops Aicardi syndrome as well.
In a developmental stage of an embryo, only one active X chromosome must be in a cell which means that the other X chromosomes should casually be disabled on its own. This does not occur in the case of Aicardi syndrome because based on the theories made by some scientists, the chromosomes do not randomly alternate and one certain chromosome joins in more than half of cell formations in the body.
This is then the skewed X-activation. Since scientists still couldn’t identify the gene that causes exactly the skewed X-activation, it makes it even harder to precisely point out the risk factors of Aicardi Syndrome. Many laboratory tests had been done worldwide by experts and even genetic sequencing to find out whether the disorder is genetically passed on to the parent’s child, but the cause is still unknown. Scientists think that it happens to children with no history of Aicardi syndrome and that it is caused by new gene mutations.
Signs and Symptoms
Aicardi syndrome is a birth defect that is usually recognized before the child reaches five months old but in some cases, it is not. The child will appear to be with similar features and characteristics like a normal healthy one, until the child begins to experience some signs of seizures at the age of three months. This is the time when the brain development is being affected and which then results to the final neural synapses of the brain to be closed.
Here are some other symptoms of Aicardi Syndrome:
- Yellowish spots found on the eyes of the child upon assessment
- Intellectual disability or mental retardation can be noted
- Presence of ocular abnormalities that affects the child’s sight; the child’s vision might be blurry or in some cases, the child could become completely blind
- Mostly bedridden and are unable to walk
- Lacks the ability to primarily interact with the environment
- Feeding problems may arise, thus, assistance is always needed
- Some have heads that are unusually small for them
- Smaller eyes compared to normal eyes external structure
- Abnormal curvature of the spine called scoliosis
- Some also has face features that are uncommon like scattered eyebrows, huge ears, or a nose with upturned tip
- Hands are small or there are some malformations in them
- Hypotonia in which the muscles are poorly developed during infancy like when the child is held, the infant may seem like a “rag doll”
As of now, there is no specific treatment that had been found for Aicardi syndrome. The most common treatment recommended is to manage and control the different symptoms that are brought by the disease. Seizures can be very difficult to treat but there is still a way to treat it through various antiepileptic medications.
The effectiveness of these still depends on the patient, but the most effective treatments are; low carbohydrate diet and high in fat which is ketogenic diet, vigabatrin tablets, anticonvulsant drug, and lamotrigine oral. Uncommon tightness of the muscles may not just cause the patient’s movement to be quite difficult and limited but it also affects the hygienic care aspect.
They can benefit through specialized care by physical medicine and some therapists, whether it be for speech, physical, or occupational therapy recommendations. After the diagnosis of the child with Aicardi syndrome, the doctor also suggests to see a pediatric neurologist for the management of the condition in a long-period of time. Some programs are also given in order to help both parents and the child for the management of mental retardation.
Studies have shown that some people acquired Aicardi syndrome at the moment of birth to the mid-forties of life. Unfortunately, those kids who are positive of Aicardi syndrome have a high chance of dying as early as their childhood years and the prognosis of the patient will then depend on the severity of the symptoms.
It is a rare case that the child does not suffer the mild syndrome that later on results to a very severe mental retardation. All these kids most likely are very dependent for self-care activities and needs to be assisted for the rest of their lives.
- Anderson S, Menten B, Kogelenberg M, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P. Aicardi syndrome in a male patient. Neuropediatrics. 2009;40:39–42.
- Chappelow AV, Reid J, Parikh S, Traboulsi EI. Aicardi syndrome in a genotypic male. Ophthalmic Genet. 2008; 29:181–3.
- Chau V, Karvelas G, Jacob P, Carmant L. Early treatment of Aicardi syndrome with vigabatrin can improve outcome. Neurology. 2004;63:1756–7.