Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.

Autor: Hadjinicolaou A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Neurology Service, Department of Pediatrics, Sainte-Justine University Health Center, Université de Montréal, Montreal, QC, Canada., Quinlan A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Liu S; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang B; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Biostatistics and Research Design Center, Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Takeoka M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Prabhu SP; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pinto AL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: anna.pinto@childrens.harvard.edu.
Jazyk: angličtina
Zdroj: Brain & development [Brain Dev] 2024 Aug; Vol. 46 (7), pp. 244-249. Date of Electronic Publication: 2024 May 12.
DOI: 10.1016/j.braindev.2024.05.001
Abstrakt: Objectives: Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III.
Methods: This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children's Hospital. We analyzed brain MRI findings based on vascular and parenchymal features. Clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore).
Results: This dedicated case series of patients with Type III SWS from a single center identified ten patients. All patients had classic stigmata indicative of SWS. Two distinct radiological phenotypes were found, one characterized by more pronounced deep venous enlargement, and the other, with more pronounced parenchymal abnormalities. There was heterogeneity in seizure presentation and outcome. Earlier age of onset and seizures predict more severe outcomes, as seen in classic SWS.
Conclusion: We could not find significant divergence in outcomes between patients with differing neuroimaging phenotypes. These results raise the question of whether the two distinct radiological phenotypes found in SWS Type III are reflective of different disease entities, with underlying genetic heterogeneity. These results suggest the need for larger, multi-center natural history studies.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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