Dandy-Walker Syndrome in Infants: Clinical Features and Diagnostic Clues

Dandy-Walker malformation (DWM) is a congenital cerebellar anomaly: cystic dilatation of the 4th ventricle, hypoplasia/absence of cerebellar vermis, and enlarged posterior fossa.

Clinical Presentation (Infancy)

• Hydrocephalus (70–90%): Macrocephaly, bulging/fontanelle, sutural splaying, venous prominence.
• Posterior fossa signs: Occipital prominence, high-positioned torcula (visible on imaging).
• Motor: Hypotonia, delayed milestones (sitting, walking), ataxia (later).
• Cranial nerves: CN VI palsy (esotropia), nystagmus, gaze palsy.
• Seizures: 15–30% (cortical dysgenesis association).
• Feeding difficulties: Dysphagia, aspiration risk.
• Cognitive: Variable — normal to severe ID; correlates with supratentorial anomalies (agenesis corpus callosum, heterotopias).

Associated Anomalies (PHACES, etc.)

• Cardiac (ASD, VSD), renal, vertebral, limb, facial (cleft lip/palate).
• Genetic syndromes: Trisomies 13/18, triploidy, 3q2 deletion, ZIC1/ZIC4 mutations.

Diagnosis

• Prenatal: Ultrasound (2nd trimester) → MRI confirmation.
• Postnatal: Cranial US (fontanelle open), then MRI (gold standard).

Management

• VP shunt for hydrocephalus (often needed early).
• Symptomatic: Antiepileptics, feeding support, PT/OT/SLT.
• Multidisciplinary clinic (neurosurgery, neurology, genetics, development).

Prognosis varies widely; early shunting and therapy optimize outcome. Genetic counseling for recurrence risk.