Dandy-Walker Variant Associated with Bilateral Congenital Cataract

Area of Science:

• Neurology
• Ophthalmology
• Genetics

Background:

• Dandy-Walker Syndrome (D-WS) is a rare congenital brain malformation affecting 1-2% of CNS anomalies.
• Prenatal diagnosis of D-WS can be challenging.
• This report focuses on an exceptionally rare co-occurrence of D-WS variant and bilateral congenital cataracts.

Observation:

• A male neonate presented with Dandy-Walker variant, microphthalmos, bilateral congenital cataracts, sclerocornea, iris coloboma, and retinopathy of prematurity in the right eye.
• The neonate experienced breathing difficulties, hypoglycemia, and hypothermia, with echocardiogram showing a patent foramen ovale.
• Maternal serology was positive for cytomegalovirus immunoglobulin G antibodies.

Findings:

• MRI confirmed Dandy-Walker variant with cerebellar fossa dilation, occipital lateral ventricle horn dilation, and absent corpus callosum.
• Ophthalmological findings included microphthalmos and cataracts, with the right eye being potentially salvageable.
• Neonatal complications included respiratory distress and metabolic disturbances.

Implications:

• This case underscores the importance of comprehensive evaluation in neonates with Dandy-Walker variant, including detailed ophthalmological and genetic assessments.
• Early recognition and management of associated anomalies are crucial for improving outcomes.
• The association with cytomegalovirus warrants further investigation into potential pathogenetic links.