What is a Dandy-Walker Malformation Associated With?

Exploring Dandy-Walker Malformation: What You Should Know

Dandy-Walker syndrome, also called Dandy-Walker Malformation (DWM), is a rare condition that affects brain development. The condition is congenital and impacts the cerebellum and its surrounding region. Thus disrupting the central nervous system.

The cerebellum is the part of the brain associated with movement, cognition, and behavior. Symptoms are typically present at birth or detected in infancy, including macrocephaly (enlarged head), delayed motor milestones, and hypotonia (low muscle tone).

Continue reading to learn more about DWM and what it can be associated with.

What Are The Causes Of Dandy-Walker Malformation?

Dandy-Walker malformation arises due to abnormalities in the cerebellum and its surrounding brain structures. These abnormalities begin in the embryonic stage; that is, people are born with this defect.

Abnormalities in chromosomal structures have been noted in particular cases of DWM. These abnormalities include deletions at chromosome 3q24.3 (location of DWM-related genes ZIC1 and ZIC4), 6p25, or 13q32.2-q33.2, or duplications of chromosome 9p.

Other causes include toxic environmental exposure during pregnancy, viral infections of the mother, or maternal diabetes.

What Conditions Are Associated With Dandy-Walker Malformation?

Dandy-Walker malformation (DWM) is not an isolated issue and appears with other developmental abnormalities. Some key associations are:

Genetic and chromosomal abnormalities:

The underlying genetic conditions include:

1. Trisomy 13 (Patau syndrome)
2. Trisomy 18 (Edwards syndrome)
3. Triploidy

Embryonic anomalies can be detected in blood tests and scans during pregnancy.

Neural defects:

These include:

1. Spina bifida
2. Joubert syndrome (related cerebellar dysplasia)
3. PHACES syndrome (posterior fossa anomalies).
4. Encephalocele

Neural defects happen during early pregnancy.

• Hydrocephalus: The area around the cerebellum is called the 4th ventricle and controls the flow of cerebrospinal fluid from inside the brain to outside. The fluid buildup in the ventricles exerts pressure on the brain. This symptom is common in almost all DWM cases.
• Congenital Heart defects

Facial and Skeletal defects:

These include:

1. Large head size
2. Swelling at the back of the skull
3. Underdeveloped or deformity of limbs, fingers, and toes(not very common)

Cerebral and developmental defects:

These include:

1. Difficulty in coordination.
2. Balance issues
3. Seizures
4. Intellectual disabilities

What Is The Diagnosis Of Dandy-Walker Malformation?

Signs of Dandy-Walker start to develop during early pregnancy. Prenatal imaging, such as fetal MRI or ultrasound, is commonly used to confirm DWM during pregnancy. The diagnosis happens at the end of the first trimester or the beginning of the second trimester.

In other cases, DWM is diagnosed after birth when symptoms like a large head or developmental delays appear. The doctors prescribe ultrasound, CT scans, and MRI to confirm.

What Are The Treatments For Dandy-Walker Malformation?

Presently, there is no cure for Dandy-Walker. However, it can be managed with symptom-related treatments, such as:

• Surgery: A shunt (Ventriculoperitoneal (VP) shunt) is placed in the brain to drain the accumulated fluid.
• Physical and speech therapy: Movement and muscle coordination will improve with continued physical therapy. Speech therapy helps with language issues and speech development.
• Medications: For seizures and other associated symptoms.
• Special Education: Children with DWM will not be able to cope in regular schools due to stunted intellectual growth. A special educational method will help them achieve their social and knowledge goals.

The prognosis varies depending on the severity of the symptoms and the child's response to treatments. However, early diagnosis remains the key to an improved life.

Dandy-Walker syndrome is not just a brain malformation but is a collection of health concerns. As prenatal scans can help detect this syndrome, pregnant women must not miss any prenatal scans.

With early diagnosis, you will have better options to manage and decide the course for future treatments. At Star Health, we provide coverage for critical illnesses of the brain and nervous system under the Star Critical Illness Multipay Insurance Policy. We settle claims seamlessly across 14000 hospital chains across India.

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