Dandy–Walker syndrome
Dandy–Walker syndrome is a rare group of congenital human brain malformations. There are three subtypes which consist of the Dandy–Walker malformation, Dandy–Walker variant, and mega cisterna magna.
Overview[edit | edit source]
Dandy–Walker syndrome is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. The syndrome is characterized by an enlargement of the fourth ventricle, a partial or complete absence of the cerebellar vermis, and cyst formation near the internal base of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.
Symptoms[edit | edit source]
The symptoms of Dandy–Walker syndrome often occur in early infancy and can include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure such as irritability, vomiting, and convulsions, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.
Causes[edit | edit source]
The exact cause of Dandy–Walker syndrome is unknown. However, it is believed to result from a genetic mutation or a prenatal event that affects brain development during the 7th and 8th week of gestation.
Diagnosis[edit | edit source]
Diagnosis of Dandy–Walker syndrome can be made by ultrasound during pregnancy, or after birth by CT or MRI.
Treatment[edit | edit source]
There is no cure for Dandy–Walker syndrome. Treatment is symptomatic and supportive. It may include surgery to control hydrocephalus, medications for seizures, and physical therapy to address developmental delays.
Prognosis[edit | edit source]
The prognosis for individuals with Dandy–Walker syndrome varies with the severity of the syndrome and associated malformations. The effect on intellectual development is variable, with some children having normal cognition and others having severe intellectual disability.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Dandy–Walker syndrome is a rare disease.
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