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Sturge-Weber disease without facial nevus
F Maiuri1, M Gangemi, G Iaconetta
1Institue of Neurosurgery, 2nd School of Medicine, University of Naples, Italy.
Journal of Neurosurgical Sciences
|April 1, 1989
Summary
This study reports a rare Sturge-Weber syndrome case lacking typical facial nevus and seizures. Bilateral occipital calcifications on CT scans suggest this diagnosis even without classic symptoms.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial port-wine stain, epilepsy, and neurological deficits.
- Incomplete forms of SWS typically present without a facial nevus but with epilepsy and occipital calcifications.
Observation:
- A rare case of SWS is presented, notable for the absence of both a facial nevus and epileptic seizures.
- Previous literature on incomplete SWS without facial nevus described occipital calcifications and seizures.
Findings:
- Computed tomography (CT) findings in incomplete SWS include unilateral or bilateral occipital calcifications without contrast enhancement.
- This specific case exhibited bilateral gyriform calcifications in the occipital region on CT scans.
Implications:
- Bilateral occipital calcifications on imaging should prompt consideration of Sturge-Weber syndrome, even in the absence of characteristic facial nevus and seizures.
- This finding expands the diagnostic criteria for incomplete SWS, emphasizing the role of neuroimaging.
- Understanding the pathogenic mechanisms of SWS variants is crucial for accurate diagnosis and management.