The malformation affects the brain causing difficulty in mood, behaviour and can have limited intellectual development.
Dandy-Walker Syndrome is a malformation of the brain that involves the cerebellum and the fluid-filled spaces around it. This affects brain development, and various parts of the cerebellum develop abnormally. Some malformations linked with Dandy-Walker syndrome include influencing the development of the vermis, the central part of the cerebellum, restricted development of the left and right side of the cerebellum. Also, the fourth ventricle is enlarged, a small space allowing the fluid to flow between the upper and lower portion of the brain and the spinal cord.
These limitations and abnormalities result in problems with the movement, coordination, intellect, mood and other neurological functions as the cerebellum is an integral part of the body’s movement, balance, and coordination. The effect of this condition varies from person to person but needs lifelong management, if worse. Read to know more about the syndrome, signs, and symptoms, and treatment available.
Causes Of Dandy-Walker Syndrome
The development occurs at birth or develops within the first year of life. This happens in utero when the cerebellum and the structure around fails to develop fully. According to researchers, in most cases, the cause is highly complex genetic components or isolated environmental factors, such as exposure to the substance causing congenital disabilities. They have also been associated with many chromosomal abnormalities. Also, a mother with diabetes is most likely to have a child with Dandy-Walker malformation rather than a healthy mother. They can also be a feature of genetic syndromes caused by mutations in specific genes.
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Symptoms Of Dandy-Walker Syndrome
There is a 10 to 20 per cent of individuals that may not develop symptoms until late childhood or early adulthood. The individuals have a different range of features than the affected infant, including headaches, increased muscle tone, mental and behavioural changes. A child with Dandy-Walker syndrome often experiences delays in motor skills like balancing, crawling, walking and coordinating movements. Individuals with Dandy-Walker malformation can experience muscle stiffness and partial paralysis of the lower limbs(spastic paraplegia) and have seizures. This can also cause hearing and vision problems which are rare. Some children have a buildup of fluid spaces surrounding the brain( hydrocephalus) as well as an increase in pressure and head size. The symptoms usually appear dramatically or unnoticed. The affected individual has an intellectual disability that ranges from mild to severe and may have learning disabilities.
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There have been reports of other brain abnormalities in people associated with Dandy-Walker malformation such as an underdeveloped or absent tissue connecting the left and right halves of the brain( agenesis of the corpus callosum), or a failure of nerve cells to migrate to their location in the brain during development. The malformation not only affects the brain but problems in other systems too that include heart defects, abnormalities of the urogenital tract, or abnormal facial features.
Diagnosis Of Dandy-Walker Syndrome
Dandy-Walker syndrome can be diagnosed with diagnostic imaging. The respective doctor will conduct a physical exam and questionnaire, following the ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI) which can scan the syndrome, including malformations and buildup of fluids.
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- Although it can be disturbing in everyday life, mild cases don’t require treatment. Some conventional treatments include:
- Surgical implantation of a shunt in the skill: Insertion of a small tube in the skull to help alleviate pressure if the child experiences increased intracranial pressure. This tube will help in draining fluid from the skull and carrying it to other areas of the body
- Therapies: The child can manage issues associated with Dandy-Walker syndrome if provided special education, occupational therapy, speech therapy, and physical therapy.
- Depending on the severity of the malformation, consult with a doctor if you find out the signs and symptoms.
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