Aicardi syndrome is a genetic disorder that affects almost exclusively girls. The inherited disorder is considered a severe, incurable disease, with affected individuals usually suffering from severe mental and physical disabilities. The likelihood of developing this syndrome is very low, as Aicardi syndrome is an extremely rare disease.
What is Aicardi syndrome?
Aicardi syndrome is a genetic disorder that affects almost exclusively girls. Aicardi syndrome is one of the neurological hereditary diseases that occur only very rarely. Worldwide, doctors estimate that there are about 400 people with the disease. As a rule, only girls suffer from Aicardi syndrome, while boys are affected only in exceptional cases. A characteristic feature of Aicardi syndrome is a malformation of the brain in which the bar connecting the two halves of the brain is missing (corpus callosum agenesis). In addition, there are malformations of the eyes, ribs, and spine, as well as epileptic seizures, muscle spasms, and developmental delays in the cognitive and motor areas. The physical malformations of Aicardi syndrome can usually be detected when the baby is born, while the epileptic seizures often do not occur until babies suffering from Aicardi syndrome are about three to five months old. Only 40 out of 100 affected children reach the age of 15. Very few affected patients live beyond 25 years of age, and life expectancy depends on the severity of Aicardi syndrome.
Causes
Aicardi syndrome is one of the hereditary diseases, meaning that it is genetic. Because the genetic change is located on the X chromosome, usually only girls develop Aicardi syndrome. Girls have two X chromosomes, so the genetic defect can be compensated. Boys have one X and one Y chromosome, so that boys affected by Aicardi syndrome are usually not able to survive. Only if boys have so-called Klinefelter syndrome and therefore have two X chromosomes and one Y chromosome can they also develop Aicardi syndrome.
Symptoms, complaints, and signs
Aicardi syndrome is manifested by a number of symptoms. First, the syndrome is associated with various deformities throughout the body, most of which can be seen at first glance. Children with Aicardi syndrome develop symptoms similar to those of epileptics. In most cases, the affected individuals suffer the typical convulsions already in the first two to four months after birth, in individual cases already in the first days of life. The malformations usually affect not only the brain but also the eyes. The eyeballs are hardly formed and abnormalities of the choroid and retina are noticeable. This results in limited vision and occasionally in secondary symptoms such as inflammation or pain. If the spine and ribs are affected, nerve pain, sensory disturbances and possibly paralysis may occur. If the immune system is involved, there is an increased incidence of infections. There is also an increased risk of tumors developing. In addition, other symptoms such as small hands, an asymmetrical face or skin problems may occur. Affected individuals are usually severely mentally and physically handicapped. Diagnosis is usually made on the basis of the malformations and the stage of development or delays in the child’s development.
Diagnosis and course
If Aicardi syndrome is suspected, in most cases the treating physician will use an imaging technique such as MRI or CT to examine the brain. Using these two methods, the doctor can diagnose malformations of the brain such as bar deficiency, which is typical in Aicardi syndrome. Brain waves are also measured with an EEG if Aicardi syndrome is suspected. This also provides the pediatrician with information about the interaction of the two hemispheres of the brain as well as possible epileptic seizures. In addition, a cerebrospinal fluid (CSF) examination is often performed in affected children, since Aicardi syndrome can also have a significant impact on the child’s immune system. The course is largely dependent on the severity of the disease. However, in the mostly mentally and physically severely handicapped patients, the symptoms progressively worsen. A cure for Aicardi syndrome is currently impossible.
Complications
Aicardi syndrome almost always leads to severe complications. Already in the first years of life, movement patterns decrease and physical and mental limitations develop that are usually irreversible. The eyes are usually damaged from birth; the eyeballs are too small and not fully formed, while the retina and choroid are weaker than in healthy children. With the progression of the hereditary disease, the malformations of the eyes can lead to blindness of the affected person. Children with Aicardi syndrome usually develop symptoms similar to those of epileptics and suffer from the typical seizures, especially in the first two to four months after birth. Typical complications of Aicardi syndrome also include malformations of the spine and ribs, calcifications of the nerve roots, and small hands; disorders that often lead to severe complications and death of the child as they progress. Most affected individuals suffer from the severe complications of Aicardi syndrome from birth. Almost all children suffering from the hereditary disease are severely mentally and physically disabled. About 40 percent of those affected reach the age of 16; with an extremely positive course, they can reach the age of 50.
When should you see a doctor?
Aicardi syndrome is usually a very serious and, above all, incurable syndrome. For this reason, the doctor can only treat the patient to a limited extent. In some cases, however, the symptoms can be alleviated so that everyday life becomes more bearable for the affected person. However, a doctor should also be consulted if epileptic seizures occur as a result of Aicardi syndrome. Although the doctor cannot treat the cause of these seizures in most cases, the patient’s discomfort and pain can be reduced. It is also possible to treat the visual symptoms so that the affected person does not go completely blind. Since mental and motor regression occurs, these abilities must be learned and promoted with the help of therapies. Here, too, treatment by a doctor has a very positive effect on Aicardi syndrome. It is not uncommon for parents and relatives to suffer from psychological symptoms as well. In this case, treatment by a psychologist is recommended to prevent further psychological upsets.
Treatment and therapy
Treatment of Aicardi syndrome is very difficult in most cases. Because of the small number of people with the disease, there is no scientific evidence of appropriate treatment for its causes. However, doctors and therapists try to treat the symptoms of children suffering from Aicardi syndrome as best as possible. This includes, for example, physiotherapy to prevent scoliosis of the spine or the prescription of medication to prevent or curb the epileptic seizures. Regular occupational therapy, which can be helpful in training motor skills, and special vision training can also help keep the condition of children suffering from Aicardi syndrome stable. Moreover, it is known that in addition to good medical treatment, psycho-social care of the whole family affected by Aicardi syndrome is absolutely necessary. In particular, parents and siblings often need support when a family member is affected by Aicardi syndrome.
Outlook and prognosis
In general, Aicardi syndrome affects almost only females. Relatively severe physical and psychological limitations occur. The intelligence of affected individuals is also greatly reduced, so that they are often dependent on the care of others in everyday life. Aicardi syndrome primarily causes various malformations that occur in the brain. Furthermore, the patient suffers from cramps in the muscles and epileptic seizures. Likewise, visual disturbances also occur and the patient’s eyeballs are smaller than usual. The spine is also affected by deformities. Due to the weakened immune system, the patient is susceptible to various diseases and infections. In the further course of the disease, complete blindness may occur. Unfortunately, it is not possible to treat Aicardi syndrome. For this reason, only the symptoms are partially limited with medication and with various therapies. Often the parents also suffer from Aicardi syndrome due to psychological complaints and depression.The patient’s life expectancy is significantly reduced by the syndrome.
Prevention
Since Aicardi syndrome is a hereditary disease, there is an effective way to prevent it. However, because it is a very rare genetic disease, the likelihood of being affected by Aicardi syndrome is not very high.
Follow-up
Because Aicardi syndrome is a genetic disease, it cannot be completely treated. Therefore, only purely symptomatic treatment is possible, and the affected person is usually dependent on lifelong therapy. Since the disease is hereditary and can also be passed on, genetic counseling is very useful in the case of those who wish to have children, in order to avoid the recurrence of Aicardi syndrome. Since those affected are usually dependent on taking medication, care should be taken to ensure that this is taken regularly. Likewise, possible interactions with other medications must be considered to avoid complications. In most cases, the patient with Aicardi syndrome is also dependent on physiotherapy. The exercises from this therapy can usually be performed in the patient’s own home, increasing the body’s mobility. In general, the loving care of family members and friends also has a very positive effect on the course of the disease. Contact with other Aicardi syndrome sufferers can also be useful in this regard. The life expectancy of the patient is not reduced by the syndrome. However, the life of the affected person is significantly more difficult.
What you can do yourself
Affected individuals with Aicardi syndrome must seek medical treatment in any case. Various self-help tips and home remedies support the conventional medical measures and make it easier to deal with the disease. Dietary and sports measures are usually worked out together with the doctor. A healthy and balanced diet can alleviate certain symptoms such as the frequently occurring skin problems. Patients can supplement the recommended physical and occupational therapy exercises with yoga, Pilates or strength training, for example. Regular exercise not only helps combat the fading motor skills, but also has a positive effect on the psyche. This can make it easier to cope with Aicardi syndrome in the long term. In general, those affected must try to accept the disease and its consequences. This can be achieved by attending self-help groups and through therapeutic counseling. Details of the available options can be obtained from the relevant specialist clinic or directly from the attending physician. In consultation with the doctor, the necessary aids such as visual aids or a wheelchair should also be requested from the insurance office at an early stage. Efforts should also be made promptly to find an apartment suitable for the disabled, depending on the degree of the illness.
