Dandy-Walker malformation is a relatively rare congenital condition characterized by abnormalities in the development of the brain's cerebellum and fluid-filled spaces within the skull. It was first described in 1914 by neurosurgeon Walter E. Dandy and pathologist Arthur Earl Walker. This malformation is named after them.
In individuals with Dandy-Walker malformation, there is an underdevelopment (hypoplasia) or partial absence of the cerebellar vermis – the central, connecting portion of the cerebellum. Additionally, the fluid-filled spaces known as the fourth ventricle, which reside in the center of the brain, may be enlarged. The abnormal development of these structures often leads to the accumulation of excess cerebrospinal fluid (CSF) in the skull.
Symptoms of Dandy-Walker malformation can vary widely, but common signs include developmental delays, problems with muscle coordination (ataxia), difficulty in balancing and walking, increased head size (macrocephaly) due to fluid accumulation, and psychomotor retardation. Other associated features may include hydrocephalus (excessive accumulation of CSF), intellectual disabilities, seizures, vision problems, and various skeletal and facial abnormalities.
The etiology of Dandy-Walker malformation remains largely unknown. Though it is often sporadic, there have been some reports of familial cases suggesting a genetic component. Diagnosis of the condition is typically made prenatally through ultrasound or postnatally through imaging techniques such as magnetic resonance imaging (MRI).
Treatment for Dandy-Walker malformation usually involves addressing the specific symptoms and complications experienced by the affected individual. These may include surgical interventions to manage hydrocephalus or to create alternative CSF pathways. Physical, occupational, and speech therapies are also commonly employed
