Dandy-Walker Syndrome: Causes, Symptoms, Diagnosis, Treatment, Outlook

Dandy walker syndrome is a congenital condition in which a part of the baby’s brain does not develop properly. This can lead to issues with movement and balance.

Dandy walker syndrome is a rare condition, which affects a child’s physical and intellectual development and may also reduce life expectancy.

What exactly causes Dandy-Walker syndrome is not known. It mostly starts in the first month of pregnancy. As the baby’s brain develops the cerebellum does not develop properly and then the fluid begins to collect in the brain.

The cause that may lead Dandy-Walker syndrome include:

• Chromosomal effects in people like trisomy 18, trisomy 13, trisomy 21, and trisomy 9
• Certain viral infections that may pass from the placenta to the fetus
• Gestational diabetes i.e., diabetes during pregnancy, which is known to occur in 2-10% of pregnancies⁽¹⁾
• Exposure of the unborn child to toxins and medications

The recessive gene might play a role in the development of these symptoms. These genes may lead to cerebellar vermis hypoplasia, which involves small or underdeveloped cerebellar and mega-cisterna manga or the large cerebrospinal space.⁽²⁾ This condition is referred to by doctors as Dandy-Walker syndrome.

There are certain factors that may increase the risk of developing Dandy-Walker syndrome, these include:

• A female with gestational diabetes
• Non-Hispanic black individuals
• People with a history of infertility⁽³⁾

In Dandy-Walker syndrome the cerebellum does not develop properly. Its size may be smaller than the normally existing one. There may also be fluid build-up in the brain that may lead to an increase in the size.

The severity of the condition may determine the noticeability of the symptoms. In many cases, the conditions go unnoticed for years. If not detected at birth, it may be noticed later in childhood.

The symptoms of Dandy-Walker syndrome include:

• Developmental delay
• Poor coordination and balance issues
• Decrease or increase in the tonicity of muscles
• Seizures in 15-30% of cases
• Increase in pressure inside the skull
• Enlarged head circumference

There are several testing methods that can be helpful in diagnosing Dandy-Walker syndrome. These include:⁽⁴⁾

• Ultrasound
• CT scan
• MRI scan

A neonatal doctor may be able to diagnose the condition in a developing fetus with the help of ultrasound and MRI.

Genetic testing may be ordered to look for the child’s DNA. These testing include:

• Cell-free fetal DNA testing: Drawing blood from the pregnant female to look for the developing baby’s DNA
• Amniocentesis: Removal of some amniotic fluid to screen for genetic tissues
• Post-birth testing: Taking blood from the newborn to check for genetic abnormalities

Treatment depends on when the condition is discovered. If it is detected during pregnancy, additional testing may be needed for monitoring. It may need an expanded care team involving neurosurgeons, neonatologists, neurologists, nurse coordinators, and nurses.

A baby born with Dandy-Walker syndrome may need additional monitoring, which means:

• Spending more time in the ICU
• Receiving IV fluids
• There may be a need for additional testing including blood and image testing

Children may need additional therapies that help with physical and mental development. These include:

• Physical therapy
• Occupational therapy
• Medication for seizures
• Speech therapy and special education

A child with Dandy-Walker syndrome may need long-term care to improve their quality of life.

Various estimates suggest that a person with Dandy-Walker may have a 10-66% chance of dying.⁽⁵⁾ However, the chances of death are reduced to about 44% with drainage surgery.⁽⁶⁾

The parents need to work closely with the medical team to improve the effectiveness of the overall outcome.

Dandy-Walker syndrome is a rare condition that is known to affect the mental and physical ability of a child. The treatment of this condition may vary depending on its severity. Treatment and therapies can improve the overall life span. Some may even not need continued life support.