Dandy-Walker syndrome is a rare genetic disorder. This disease makes sufferers experience enlargement of the head to disturbances in coordination and body movements, such as difficulty grasping and walking.
Dandy-Walker syndrome occurs due to abnormalities in the development of the cerebellum and the cerebrospinal fluid. Small brain (cerebellum) is the part of the brain that regulates the coordination of body movements.
Patients with Dandy-Walker syndrome can experience disturbances in body movement and coordination, problems with intellectual function, congenital heart disease, disorders of the formation of the urinary tract, neck deformities, and congenital eye disorders.
Symptoms of Dandy-Walker Syndrome
Generally, the symptoms and signs of Dandy-Walker syndrome are seen at birth or develop within the baby's first year of life. However, in some cases, this disorder has been seen since in the womb.
The following are some of the symptoms of Dandy-Walker syndrome:
1. Head enlargement
Enlargement of the head is one of the most common forms of deformity in this disease. About 70–90% of people with Dandy-Walker syndrome have an enlarged head due to hydrocephalus, which is a buildup of fluid in the skull.
2. Pressure on the head cavity
The buildup of fluid can increase the pressure in the cavity of the head. This can cause the child to experience brain damage, fussiness, double vision, and vomiting.
3. Delayed motor development
People with Dandy-Walker syndrome often experience delays in motor skills, such as crawling, walking, maintaining balance, grasping, and other motor skills that require limb coordination.
4. Stiff muscles or spasms
Patients with Dandy-Walker syndrome are also unable to control movements due to stiff muscles and often spasms or paralysis in one leg.
5. Other Symptoms
In addition, some people with Dandy-Walker syndrome also have disorders such as polydactyly (more than five fingers), syndactyly (fingers do not separate), and cleft lip.
Dandy-Walker Syndrome Causes and Risk Factors
Dandy-Walker syndrome can be caused by any of the following:
Genetics
Studies show that genetic mutations are the cause of Dandy-Walker syndrome. Another cause is a chromosomal abnormality called trisomy, which is when there are three chromosomes in the body's cells, which should only be a pair.
In Dandy-Walker syndrome, the trisomy generally occurs on chromosomes 9, 13, 18, or 21. As with most genetic diseases, genetic mutations and chromosomal abnormalities have no known exact cause.
Possibly, this condition is influenced by environmental factors during pregnancy, for example, the mother was infected with the rubella virus or toxoplasma during pregnancy.
Diabetes in pregnant women
Cases of Dandy-Walker syndrome are also more common in pregnant women who suffer from diabetes. However, the association of these conditions with Dandy-Walker syndrome still requires further research.
Most cases of Dandy-Walker syndrome are random. This means, the disease can appear in children who do not have a history of genetic diseases in the family.
But indeed, parents from families who have a history of genetic disorders are more at risk of giving birth to children with Dandy-Walker syndrome. This is because abnormal genes can be inherited.
Dandy-Walker Syndrome Diagnosis and Treatment
The diagnosis of Dandy-Walker syndrome is made through a physical examination and supporting examinations in the form of ultrasound and MRI. In addition, genetic testing is also needed to determine the gene or chromosomal abnormalities that cause Dandy-Walker syndrome.
Handling of Dandy-Walker syndrome depends on the organ that is experiencing the abnormality. The following are some types of treatment that can be done:
- Surgery, to overcome blockages and excess fluid in the brain if the patient has hydrocephalus. This action is done to reduce pressure inside the head and is expected to overcome the symptoms that arise.
- Physiotherapy to restore flexibility and build muscle strength.
- Anti-seizure drugs, if the patient has seizures.
Survival of Patients with Dandy-Walker Syndrome
The life expectancy of people with Dandy-Walker syndrome depends on the severity of the disease. The more organs that have abnormalities, the lower the life expectancy.
Meanwhile, the patient's functional ability depends on the level of abnormalities in the brain. There are some cases where people with Dandy-Walker syndrome can live and grow and develop well. However, there are also other cases in which children with Dandy-Walker syndrome experience severe growth retardation.
Early detection and routine pregnancy checks are important to determine whether there are health problems, including genetic disorders in the fetus. Consult a pediatrician to determine the appropriate treatment plan for the condition of Dandy-Walker syndrome.
