Makindo Medical Notes

Related Subjects: |Syringomyelia |Syringobulbia |Dandy Walker syndrome

About

• Dandy-Walker Syndrome: A congenital brain malformation involving the cerebellum and the fluid-filled spaces around it. It is characterized by partial or complete absence (agenesis) of the cerebellar vermis, the part of the brain that coordinates movement and balance.
• This condition often results in an enlarged fourth ventricle and may be associated with other central nervous system malformations, such as hydrocephalus or abnormalities of the corpus callosum.

Aetiology

• Absent or Hypoplastic Cerebellar Vermis: The cerebellar vermis, which connects the two hemispheres of the cerebellum, is either underdeveloped or completely absent.
• Hypoplastic Cerebellum: The cerebellum may be smaller or underdeveloped in patients with Dandy-Walker syndrome.
• Enlarged Fourth Ventricle: The fourth ventricle is an area within the brain that is often enlarged in individuals with this condition, contributing to hydrocephalus (buildup of cerebrospinal fluid).
• Corpus Callosum Abnormalities: The structure connecting the two hemispheres of the brain may be underdeveloped or absent in some cases.

Clinical Features

• Hydrocephalus: Can develop at any point after birth and leads to increased intracranial pressure, causing symptoms such as irritability, vomiting, and an enlarging head (macrocephaly).
• Delayed Motor Development: Children with Dandy-Walker syndrome often show delays in motor milestones, such as sitting, standing, or walking.
• Enlarged Skull: Due to the presence of hydrocephalus, the skull may enlarge, resulting in a prominent forehead and increased head circumference.
• Other Neurological Issues: Seizures, vision problems, and muscle stiffness (spasticity) may also be present.

Associated Conditions

• Other brain abnormalities such as polymicrogyria, where the brain develops abnormally with too many small folds.
• Heart defects, kidney problems, or facial abnormalities may also be seen in some individuals with Dandy-Walker syndrome.

Investigations

• Prenatal Diagnosis: Ultrasound (USS) during pregnancy may detect Dandy-Walker syndrome as early as the second trimester by visualizing an enlarged fourth ventricle and missing cerebellar vermis.
• MRI: Magnetic resonance imaging (MRI) after birth can confirm the diagnosis and provide a detailed view of the brain abnormalities.

Management

• Shunting: If hydrocephalus develops, a shunt may be inserted to drain excess cerebrospinal fluid and relieve pressure on the brain.
• Supportive Care: This includes physical, occupational, and speech therapy to help manage developmental delays and improve quality of life.
• Multidisciplinary Approach: Involvement of neurologists, neurosurgeons, pediatricians, and therapists to manage symptoms and provide comprehensive care.

Prognosis

• The prognosis varies depending on the severity of the brain malformations and the presence of associated conditions. Some children may have normal cognitive function, while others may experience significant developmental delays and neurological challenges.