Dandy–Walker malformation

Dandy–Walker malformation
Dandy-Walker-Variante - MRT T2 sagittal.jpg
Synonyms	Dandy–Walker syndrome, Dandy–Walker complex
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, enlarged head, problems with movement
Complications	Hydrocephalus, intellectual disability
Onset	Congenital
Duration	N/A
Types	N/A
Causes	Genetic mutations, environmental factors
Risks	N/A
Diagnosis	MRI, Ultrasound
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical intervention, supportive care
Medication	N/A
Prognosis	Varies
Frequency	1 in 25,000 to 35,000 births
Deaths	N/A

Dandy–Walker malformation is a congenital brain malformation involving the cerebellum and the fluid-filled spaces around it. It is characterized by an enlargement of the fourth ventricle, a partial or complete absence of the cerebellar vermis, and cyst formation near the base of the skull. This condition is named after Walter Dandy and Arthur Earl Walker, who described the syndrome in the early 20th century.

Presentation

The symptoms of Dandy–Walker malformation can vary significantly from person to person. Common symptoms include developmental delay, an increase in head size (macrocephaly), and problems with movement and coordination. Some individuals may also experience seizures, vision problems, and intellectual disabilities.

Pathophysiology

The malformation is thought to result from a developmental anomaly of the cerebellum and the fourth ventricle. The cerebellar vermis, which connects the two hemispheres of the cerebellum, is either underdeveloped or absent. This leads to the characteristic cystic enlargement of the fourth ventricle.

Diagram of the fourth ventricle in the human cerebellum

Diagnosis

Dandy–Walker malformation is typically diagnosed through imaging techniques such as MRI or Ultrasound. These imaging studies reveal the characteristic features of the malformation, including the enlarged fourth ventricle and the absence or underdevelopment of the cerebellar vermis.

Treatment

Treatment for Dandy–Walker malformation is symptomatic and supportive. Surgical intervention may be necessary to manage hydrocephalus, which is a common complication. This can involve the placement of a shunt to drain excess cerebrospinal fluid. Other treatments focus on managing symptoms and may include physical therapy, occupational therapy, and special education services.

Prognosis

The prognosis for individuals with Dandy–Walker malformation varies widely. Some individuals may have normal intelligence and only mild symptoms, while others may have significant neurological impairments and developmental delays. Early intervention and supportive therapies can improve outcomes for many affected individuals.

Epidemiology

Dandy–Walker malformation occurs in approximately 1 in 25,000 to 35,000 live births. It affects both males and females and has been associated with various genetic syndromes and environmental factors.

Also see

• Hydrocephalus
• Cerebellar agenesis
• Congenital brain malformations
• Neurological disorders