Related Experiment Video
Updated: Mar 28, 2026
Role of Diffusion MRI Tractography in Endoscopic Endonasal Skull Base Surgery
Published on: July 5, 2021
Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings
Anna L Pinto1, Liam Chen2, Rachel Friedman3
1Department of Neurology, Boston Children's Hospital, Boston, Massachusetts; Department of Neurology, Dartmouth Hitchcock New Hampshire, Manchester, New Hampshire.
Background:
We describe the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings of patients with Sturge-Weber syndrome and medically refractory epilepsy.
Methods:
We reviewed the clinical features, preoperative MRI studies, and pathologic findings of all patients with Sturge-Weber syndrome who underwent excisional surgery for intractable epilepsy at Boston Children's Hospital between 1993 and 2011.
Results:
Eleven patients (male/female = 4/7) with Sturge-Weber syndrome were identified who underwent surgery for intractable epilepsy (mean age 13 ± 6.2 months), including hemispherectomy (n = 10) and focal cortical resection (n = 1). Mean age at seizure onset was 15 ± 11 weeks. Fifty-five percent (n = 6) of patients exhibited two different types of seizures, and 18% (n = 2) had three types of seizures. Focal clonic seizures were the most common type, occurring in nine patients; apnea was the second most common, occurring in four patients. Brain MRIs were reviewed in five patients. Histopathologic examination revealed varied degrees of cortical morphologic anomaly in seven of 11 patients. Overall, there were no abnormalities in the MRIs that corresponded directly with the pathologic findings except in one patient with polymicrogyria.
Conclusions:
In spite of pathologic findings of cortical anomalies in varied degrees, these findings could not be readily detected on brain MRIs. The failure to detect focal cortical dysplasia on MRIs may be attributable to the subtle microscopic nature of the abnormalities; in some of the older individuals, the imaging studies available for review were done during an advanced stage of the disease.
Insights
Brain magnetic resonance imaging (MRI) often fails to detect subtle cortical anomalies in Sturge-Weber syndrome patients with epilepsy. Neuropathologic findings revealed anomalies not visible on preoperative MRI scans, impacting surgical planning for intractable epilepsy.
Area of Science:
- Neurology
- Neuroimaging
- Pathology
Background:
- Sturge-Weber syndrome is a rare congenital disorder characterized by a distinctive vascular malformation (port-wine stain) typically involving the brain, face, and meninges.
- Medically refractory epilepsy is a common and debilitating complication of Sturge-Weber syndrome, often necessitating surgical intervention.
- Understanding the correlation between neuroimaging and neuropathologic findings is crucial for effective management of epilepsy in these patients.
Purpose of the Study:
- To investigate the brain magnetic resonance imaging (MRI) abnormalities and neuropathologic findings in patients diagnosed with Sturge-Weber syndrome and medically refractory epilepsy.
- To assess the concordance between preoperative MRI findings and histopathologic examination in identifying cortical anomalies.
- To evaluate the implications of these findings for surgical treatment of intractable epilepsy.
Main Methods:
- Retrospective review of clinical features, preoperative MRI studies, and pathologic findings.
- Analysis of 11 patients with Sturge-Weber syndrome who underwent excisional surgery for intractable epilepsy between 1993 and 2011.
- Surgical procedures included hemispherectomy (n=10) and focal cortical resection (n=1).
Main Results:
- Eleven patients with Sturge-Weber syndrome and intractable epilepsy were identified (mean age at surgery 13 months).
- Histopathologic examination revealed varied degrees of cortical morphologic anomaly in 7 out of 11 patients.
- Brain MRIs showed no direct correlation with pathologic findings in most cases, except for one patient with polymicrogyria.
Conclusions:
- Pathologic findings of cortical anomalies in Sturge-Weber syndrome are often not readily detectable on brain MRI.
- The subtle, microscopic nature of focal cortical dysplasia may contribute to its failure to be identified on MRI.
- Advanced disease stages or older imaging techniques in some patients may also limit MRI's ability to detect subtle abnormalities.
