Dandy-Walker Syndrome
En Español (Spanish Version)

Definition
Dandy-Walker syndrome is a brain deformity present at birth. With this syndrome, there is a deformity of the cerebellum and the presence of cyst in the lower portion of the brain. The deformity involves an area in the back of the brain that controls movement and cognitive learning. In many cases, there is also an abnormal accumulation of cerebrospinal fluid within the ventricles of the vein. The symptoms of this syndrome may develop suddenly or may go unnoticed.

Cerebellum

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Causes
Dandy-Walker syndrome occurs during brain development before birth. It is unclear why the brain does not develop normally. Recently, genes have been discovered that appear to contribute to some cases of Dandy-Walker syndrome.

Risk Factors
Dandy-Walker syndrome may be inherited. If a parent has Dandy-Walker syndrome, the child has a higher risk of the condition. There are no other known risk factors.

These factors are associated with Dandy-Walker syndrome, but they do not increase the risk of being born with the syndrome:
  • Absence of the corpus callosum, which connects the brain's hemispheres
  • Malformations of the heart, face, limbs, fingers, and toes

Symptoms
Symptoms of Dandy-Walker syndrome often occur in infancy, but can also occur in older children. Most cases are diagnosed within the first year of life. Symptoms may include:
  • Impaired development of normal speech and language
  • Slow motor development
  • Irritability
  • Vomiting
  • Convulsions
  • Unsteadiness
  • Lack of muscle coordination
  • Jerky eye movements
  • Increased head circumference
  • Bulging of the back of the skull
  • Problems with the nerves that control the eyes, face, and neck
  • Abnormal breathing

Children with this condition may have problems with other organs, including heart malformations, kidney and urinary tract abnormalities, cleft lip , and extra fingers or toes.

Diagnosis
The doctor will:
  • Ask about your child's symptoms and medical history
  • Do a physical exam
  • Order tests (eg, CT scan , MRI scan )

Treatment
Talk with your doctor about the best treatment plan. Treatment will depend on the problems caused by the syndrome. This may involve placing a special tube called a shunt inside the skull. The shunt drains excess fluid to reduce pressure and help control swelling.

Prevention
There is no known way to prevent this syndrome.




RESOURCES:
Children's Craniofacial Association

National Institute of Neurological Disorders and Stroke

CANADIAN RESOURCES:
Canadian Neurological Sciences Federation


References:
Aldinger KA, Lehmann OJ, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics. 2009;41(9):1037-1042.

Boltshauser EJ. Dandy-Walker syndrome. In: Gilman S, ed. MedLink Neurology. San Diego, CA: MedLink Corporation. MedLink website. Available at: http://www.medlink.com . Accessed August 10, 2007.

Dandy-Walker. Hyman-Newman Institute for Neurology and Neurosurgery website. Available at: http://www.nyneurosurgery.org/dandywalker.htm . Accessed May 22, 2007.

Dandy-Walker syndrome. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/dandywalker/dandywalker.htm . Accessed May 22, 2007.

Sarnat HB. Flores-Sarnat L. Developmental disorders of the nervous system. In: Bradley WG, Daroff RB, Fenichek GM, Jankovic J, eds. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth Heinemann Elsevier; 2008.

Last Reviewed September 2011