Sturge-Weber syndrome with cerebellar involvement

Area of Science:

• Neuroscience
• Radiology
• Genetics

Background:

• Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial port-wine stains, epilepsy, and neurological deficits.
• Typical SWS involves leptomeningeal angiomas in the supratentorial region, often associated with ocular and facial vascular malformations.
• Posterior fossa involvement in SWS is exceptionally uncommon, posing diagnostic and therapeutic challenges.

Observation:

• This report describes two pediatric patients diagnosed with Sturge-Weber syndrome.
• Both patients presented with unusual simultaneous involvement of both supratentorial and infratentorial compartments.
• Clinical presentation and diagnostic imaging findings are detailed for these rare cases.

Findings:

• Magnetic resonance imaging (MRI) revealed extensive leptomeningeal angiomatosis extending into the posterior fossa in both patients.
• Digital subtracted angiography (DSA) confirmed the vascular abnormalities and their extent, highlighting the rare infratentorial component.
• These findings challenge the typical understanding of SWS lesion distribution.

Implications:

• The findings expand the spectrum of neuroimaging findings in Sturge-Weber syndrome.
• Highlights the importance of considering posterior fossa involvement in SWS diagnosis, even when atypical.
• Suggests a need for tailored neuroimaging protocols to detect rare SWS manifestations.