Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series.

Autor: Ostrem BEL; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts; Department of Neurology, University of California, San Francisco, San Francisco, California. Electronic address: bridget.ostrem@ucsf.edu., Godfrey D; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts., Caruso PA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts; Lenox Hill Radiology and Medical Imaging Associates, New York, New York., Musolino PL; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2023 Dec; Vol. 149, pp. 39-43. Date of Electronic Publication: 2023 Sep 09.
DOI: 10.1016/j.pediatrneurol.2023.08.026
Abstrakt: Background: Despite an increase in the number of genes associated with pediatric stroke, imaging phenotypes in children have not been well reported. Guidelines are needed to facilitate the identification and treatment of patients with monogenic causes of cerebrovascular disorders.
Methods: We performed a retrospective review of imaging and medical records of patients aged zero to 21 years with monogenic causes of vascular malformations, small or large vessel disease, transient ischemic attacks, and/or ischemic or hemorrhagic stroke. We classified patients according to their imaging phenotype and reviewed neurological and systemic features and management strategies. We reviewed the literature to identify genes associated with cerebrovascular disorders presenting in childhood.
Results: We identified 18 patients with monogenic causes of cerebrovascular disorders and classified each patient as belonging to one or more of three cerebrovascular phenotypes according to predominant imaging characteristics: small vessel disease, large vessel disease, and/or vascular malformations. Preventative treatments included aspirin, N-acetylcysteine, tocilizumab, therapeutic low-molecular-weight heparin, and resection of vascular malformations.
Conclusions: Classifying pediatric patients with cerebrovascular disorders by imaging phenotype can aid in determining the next steps in genetic testing and treatment.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Bridget Ostrem reports financial support was provided by National Institutes of Health. Patricia Musolino reports financial support was provided by National Institutes of Health.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: