Dandy-Walker syndrome is a rare congenital disorder characterized by malformations in the brain that primarily affect the cerebellum, which is the part of the brain responsible for coordinating movement and balance. The syndrome was first described by Walter Dandy and Arthur Earl Walker in the 1940s, hence the name.
Individuals with Dandy-Walker syndrome typically exhibit a combination of symptoms, including an enlarged fourth ventricle in the brain (known as hydrocephalus), a cystic enlargement of the posterior fossa (cystic malformation), and underdevelopment or absence of the vermis, a structure that connects the two hemispheres of the cerebellum. These features can result in a variety of physical, neurological, and developmental problems.
Physical symptoms may include an abnormally large head (macrocephaly), a bulging back of the skull (occipital encephalocele), and unusual facial features. Neurological symptoms often manifest as problems with balance, coordination, and muscle tone, leading to difficulties in walking and performing fine motor skills.
Additionally, individuals with Dandy-Walker syndrome may experience developmental delays, intellectual disability, and delayed language acquisition. Other associated health issues may include seizures, visual impairments, and hydrocephalus requiring shunt placement to drain excess fluid from the brain.
Dandy-Walker syndrome is typically diagnosed prenatally with ultrasound or after birth with medical imaging techniques such as magnetic resonance imaging (MRI). Although there is no cure for the syndrome, treatment often focuses on addressing symptoms and complications, such as physical therapy to improve motor function, speech therapy to support communication skills, and surgical interventions for hydrocephalus management. The prognosis for individuals with Dandy-Walker syndrome can vary widely depending on the severity of the malformations and
