Variation in Neuroimaging and Outcomes in Patients with Sturge Weber Syndrome Type III
Abstract number :
3.243
Submission category :
5. Neuro Imaging / 5A. Structural Imaging
Year :
2022
Submission ID :
2204697
Source :
www.aesnet.org
Presentation date :
12/5/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:26 AM
Authors :
Aisling Quinlan, – Boston Children's Hospital; Aristides Hadjinicolaou, MD – Boston Children's Hospital; Masanori Takeoka, MD – Boston Children's Hospital; Mustafa Sahin, MD PhD – Boston Children's Hospital; Sanjay Prabhu, MBBS – Boston Children's Hospital; Anna Pinto, MD PhD – Boston Children's Hospital
Rationale: Sturge-Weber syndrome (SWS) is a life-long neurovascular condition present in roughly one out of every 20,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, in addition to neurological involvement in Type I, whereas Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings in patients with SWS Type III. We hypothesized that SWS Type III has a unique radiological phenotype and resultant different clinical manifestations. We correlated neuroimaging features with seizure and cognitive outcomes in ten patients with SWS Type III.
Methods: This is a retrospective case series examining the clinical, radiological and cognitive characteristics of patients referred to the Comprehensive SWS Clinic at Boston Children’s Hospital with a diagnosis of SWS Type III. We analyzed MRI findings for vascular and brain parenchymal features. The clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore).
Results: This is the largest case series of patients with Type III SWS from a single center. Ten patients were identified and subdivided based on predominant neuroimaging features. Age range was between 5 and 23 years of age, with 7 female and 3 male patients. In our sample, 80% had a prior history of focal seizures, 70% had a prior history of migraine and one had prior stroke-like events. Neuro scores were significantly variable in our sample. All patients had leptomeningeal enhancement; findings were unilateral in all patients (70% left, 30% right). White matter T2 signal of the affected lobe/s was increased in 30%, normal in 30% and decreased in 40%. Focal cerebral atrophy was present in all cases and involved more than one lobe in all patients. Calcifications were noted in 80% of patients. White matter diffusion was normal in all patients. Based on these findings, 4 were classified as predominantly superficial venous anomalies and 6 with a combination of superficial and deep venous anomalies.
Conclusions: Although preliminary results indicated that predominant imaging features can predict neurological outcomes, with patients with stroke-like events and atypical headaches more likely to occur in a subtype with predominant deep venous anomalies, and seizures more likely to be associated with brain parenchymal abnormalities such as atrophy and calcifications, no significant variation was found between groups.
Funding: Not applicable
Neuro Imaging