Causes
Aicardi syndrome probably results from a new mutation in a gene located on the X chromosome. The exact gene or genetic mechanism that causes Aicardi syndrome is not yet known. A recently discovered report describing changes in the TEAD1 and OCEL1 genes in two girls with the syndrome was not confirmed in a large group of other girls with Aicardi syndrome. Thus, these genes do not appear to be the cause of Aicardi syndrome. The condition is believed to be fatal to newborn male children.
The parents of a woman with Aicardi syndrome are usually not affected. There have been no reports of transmission of Aicardi syndrome from the affected mother to her child. Other family members are also usually not at increased risk.
Symptoms and signs
Aicardi syndrome usually begins with involuntary muscle spasms between the ages of four months and four years.
Other symptoms may include epilepsy, mental retardation, profound muscle weakness (hypotonia), abnormally small head (microcephaly), abnormally small eyes (microphthalmia), incomplete development of the retina and nerve at the back of the eye (coloboma), and/or rib and/or abnormalities. spine.
Children of all ages with Aicardi syndrome experience significant delays in motor development. Aicardi syndrome can be life-threatening in childhood due to complications of upper respiratory tract infections.
How does the syndrome manifest itself?
Children 2 to 5 months old who have Aicardi syndrome are outwardly indistinguishable from healthy babies. Later, convulsions or infantile spasms begin to appear. They represent a type of epileptic syndrome.
The child reduces vigorous activity and falls into a stupor. The gaze is fixed on one point. The arms begin to rise up and bend.
The body arches and the legs begin to straighten sharply. This takes seconds and can be continued at any moment. During seizures, the baby becomes irritable and cries constantly. Later, such seizures often lead to epilepsy.
In parallel, other symptoms of Aicardi syndrome are present:
- the retina is affected, yellowish spots appear in the eyes;
The photo shows an eyeball with Aicardi syndrome - the child's eyes are abnormally small;
- congenital coloboma - a notch, gap or slit in the iris of the eye;
- developmental delay;
- problems feeding the baby;
- diarrhea;
- entry of food and gastric juice into the esophagus - gastroesophageal reflux (in adults - heartburn). It often goes away on its own and is not a serious condition. However, you should know that this is one of the signs of the disease;
- muscle lethargy.
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Based on observations of patients, additional signs can be identified:
- lateral location of the eyebrows, their rarity;
- protruding incisors and upturned nose;
- the angle of the nasal septum is reduced.
Sometimes growths and lumps on the skin are observed: nevi, skin diverticula and tumors, the cause of which is the pathology of blood vessels - hemangiomas. A hand anomaly is rare.
There are patients with plagiocephaly (a flattened area on the head), facial asymmetry, as well as cleft palate or upper lip. The size of the head and hands is noticeably smaller than that of a healthy person. The nose is flat and the ears are overly large. Too little space separates the nose and lips.
More patients developed severe epileptic seizures that did not go away until the end of their lives. The presence of hemivertebrae and the absence of ribs is known, leading to a noticeable curvature of the spine.
Increased risk of developing tumors:
- choroid plexus papillomas;
- lipomas;
- angisarcoma;
- hepatoblastoma;
- hemangiomas;
- angiosarcomas;
- hepatoblastoma;
- interstitial polyposis;
- embryonal calcioma;
- intestinal polyposis.
Anomalies in the eyes can lead to pigmentary renitis and microphthalmia. Cataracts and optic nerve atrophy are possible. This can lead to visual impairment and even complete blindness.
The endocrine system is often disrupted - late onset of puberty or obvious delay.
Physical development begins to slow down. At the age of 7-10 years, the patient looks like a five-year-old. Weight also increases with a delay.
According to scientists, the brain of a healthy child has more folds than that of a child with Aicardi syndrome. It happens that cysts that are filled with fluid form in the affected brain.
Most patients have a pronounced mental retardation, however, sometimes they are simply poorly able to learn.
The ability for articulate speech is often very poorly developed. Independent movement is rarely observed. Some are completely dependent on the help of other people.
Affected Populations
There are approximately 500 known cases of Aicardi syndrome worldwide, with a particularly large number in Japan. The syndrome occurs in children of different racial backgrounds.
According to recent studies in Sweden, the prevalence of Aicardi syndrome ranges from 2 to 15 cases per 100,000 girls. Unfortunately, similar studies have not been conducted in Russia. However, given the phenotypic diversity and diagnostic difficulties, many cases of the disease remain undiagnosed. This allows us to revise data on the true prevalence of Aicardi syndrome upward; perhaps Aicardi syndrome is a more common cause of mental retardation and infantile spasms in girls than is currently believed.
Today, it is believed that the incidence of Aicardi syndrome among all children with infantile spasms is only about 2-4%.
Causes and symptoms of the disease
The causes of myoclonic encephalopathy have not been established to date. The disease develops in newborn babies. When a child is 2-5 months old, no signs are observed. In appearance, patients do not differ from healthy children.
After reaching 6 months of age, aicardi syndrome is accompanied by convulsions and infantile spasms. The child is diagnosed with a decrease in vigorous activity and the development of stupor. The baby concentrates his gaze on one point.
Myoclonic encephalopathy is accompanied by a sharp arching of the baby’s body and straightening of the legs. Seizures are accompanied by irritability and constant crying of the baby. When seizures occur in young patients, the development of epilepsy is diagnosed.
Aicardi syndrome is accompanied by additional symptoms. The disease affects the retina of the eye, which leads to the appearance of yellowish spots. The child's visual organs are abnormally small .
The pathology is accompanied by congenital colombia, which is characterized by the presence of a gap, notch or slit in the iris. Difficulties arise during the period of feeding the baby. Myoclonic encephalopathy is accompanied by diarrhea.
Food or gastric juice enters the esophagus, which leads to the development of gastroesophageal reflux. This symptom goes away on its own and does not require medical intervention. In aicardi syndrome, muscle apathy is diagnosed.
If you monitor the patient, this will help determine the development of additional symptoms. The baby's eyebrows are located laterally . The child's nose is upturned and the incisors are excessively protruding. The angle of the nasal septum in aicardi syndrome is insignificant.
In patients, myoclonic encephalopathy is accompanied by growths and indurations on the skin - diverticula, nevi, tumor processes that develop against the background of blood vessel pathology - hemangiomas. In rare cases, abnormalities of the upper extremities are diagnosed with aicardi syndrome.
In children, the disease is diagnosed by facial asymmetry. There are clefts in the area of the upper lip and palate. The head and arms are smaller than those of a healthy child. There is a small space between the nose and lips.
Against the background of abnormalities in the eyes, patients with aicardi syndrome develop microphthalmos and rhinitis pigmentosa. Optic nerve atrophy and cataracts may develop. Patients' vision is impaired, which causes complete blindness.
Myoclonic encephalopathy is accompanied by disturbances in the functioning of the endocrine system. In children, puberty occurs late or is clearly delayed. Aicardi syndrome is accompanied by a slowdown in physical development. Weight gain occurs with a delay.
Myoclonic encephalopathy is accompanied by a large number of symptoms, if they occur, it is recommended to conduct an examination to prescribe effective treatment.
Diagnostics
To date, there is no specific laboratory diagnostic test or study that would allow a diagnosis of Aicardi syndrome. To do this you need:
- neurological examination;
- ophthalmoscopy;
- electroencephalography (EEG);
- magnetic resonance imaging with and/or without contrast;
- X-ray of the skeleton.
Magnetic resonance imaging can detect agenesis of the corpus callosum, asymmetry of the cortical hemispheres, heterotopia of the cortex, intracerebral cysts, choroid plexus papilloma, etc. Cortical axons, which normally should intersect, are not formed during its agenesis and, accordingly, are not identified during neuroimaging.
Establishing diagnosis
At the moment there is no special diagnostic technology with which one can accurately make a diagnosis. Typically, the following methods are used:
- Neurological examination , during which the doctor assesses the state of the child’s nervous system and determines its disorders.
- Ophthalmoscopy includes the study of the fundus, its vessels and the retina.
- Electroencephalogram (EEG) . With its help, the functioning of the brain is studied, electrical impulses that emanate from its individual parts are recorded. It is the main method for diagnosing epilepsy and other diseases. With Aicardi syndrome, it helps to determine the severity and type of attacks.
- Magnetic resonance imaging (MRI) . The basis of this diagnostic test is a constant magnetic field, rapidly changing local magnetic fields and radio frequency energy. Equipment specially designed for this creates a clear image of the internal organ. With the help, pathology of the corpus callosum, asymmetry of the hemispheres, intracerebral cyst and other anomalies are detected.
- Computed tomography (CT) . With its help, specialists identify areas of the brain that have been damaged as a result of the disease.
- X-ray of the skeleton.
- Gene research.
Other diagnostic methods may be performed depending on the symptoms and general condition of the patient.
Treatment of Aicardi syndrome
Treatment for Aicardi syndrome has not yet been developed. Symptomatic treatment is mainly used. The main treatment strategy is the relief of infantile spasms, which are often resistant to antiepileptic drugs; their treatment is complex and its effectiveness is low. Various medications are used in the highest possible doses.
Initial therapy begins with vigabatrin (Sabril) - 50-100 mg/kg/day and valproate (Depakine syrup) - 50-100 mg/kg/day. For frequent attacks, combinations of antiepileptic drugs with benzodiazepines (clonazepam) -0.25-2 mg/day, or phenobarbital (5-15 mg/kg/day) are prescribed, and suxilep 15-30 mg/kg/day can also be administered.
Forecast
The prognosis for girls with Aicardi syndrome varies depending on the severity of their symptoms.
The prognosis for Aicardi syndrome is usually serious due to severe mental retardation and the resistant nature of seizures. Some children (up to 25%) die in the first years of life. Of the surviving children, only 25% walk independently and only 50% have self-care skills.
Life expectancy is highly variable, depending on the severity of symptoms. The average life expectancy, according to various sources, ranges from 8.3 to 18.5 years. But there is information about a 32-year-old woman with Aicardi syndrome, as well as a 49-year-old woman with a moderate form of the syndrome
Health Tips
Seizures can be controlled with standard procedures and medications.
Adequate attention should be paid to the method of nutrition, the type of food consumed. Adequate caloric intake must be maintained for proper development.
Appropriate treatment of chest abnormalities and physical therapy is another way to cope with the complications that arise due to lung infections in Aicardi-Goutier syndrome.
Genetic counseling is recommended in high-risk families to identify carriers of gene mutations. Infants should be regularly monitored for risk of glaucoma, diabetes, and abnormal spinal development.
Which doctor should I contact?
When a child shows typical symptoms of seizures, irritability, and erratic sleep patterns, a pediatrician should be consulted. Based on symptoms and diagnosis, the child will be referred to a neurologist.
Various terms
Cree encephalitis; AGS; familial infantile encephalopathy with chronic lymphocytosis of cerebrospinal fluid and intracranial calcification; pseudotoxicoplasmosis syndrome; encephalopathy with basal ganglia classification; pseudo-TORCH syndrome.
Lifespan
About 25% of people with Aicardi-Goutieres syndrome die before age 17.
