Literature DB >> 21763956

Moyamoya syndrome in a child with Noonan syndrome.

Po-Cheng Hung1, Huei-Shyong Wang, Alex M-C Wong.   

Abstract

Previous studies have rarely described the association between Noonan syndrome and moyamoya syndrome. Although most affected children with moyamoya exhibit ischemic symptoms, headache is also a frequent symptom. We report the case of a 9-year-old girl with Noonan syndrome and moyamoya syndrome that manifested as recurrent headaches without history of transient ischemic attack. Brain magnetic resonance imaging and magnetic resonance angiography revealed bilateral moyamoya syndrome and mild ventriculomegaly with focal encephalomalacia at right peritrigonal region. Disruption of vascular development during the prenatal stage has been proposed as the cause of cerebrovascular disease in Noonan syndrome. However, genetic factors may also contribute.
Copyright © 2011 Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Year:  2011        PMID: 21763956     DOI: 10.1016/j.pediatrneurol.2011.03.007

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  3 in total

1.  Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Authors:  Heather R Tiffin; Zandra A Jenkins; Mary J Gray; Sophia R Cameron-Christie; Jennifer Eaton; Salim Aftimos; David Markie; Stephen P Robertson
Journal:  Neurogenetics       Date:  2013-03-02       Impact factor: 2.660

Review 2.  Moyamoya disease and syndromes: from genetics to clinical management.

Authors:  Stéphanie Guey; Elisabeth Tournier-Lasserve; Dominique Hervé; Manoelle Kossorotoff
Journal:  Appl Clin Genet       Date:  2015-02-16

Review 3.  Pathophysiology of Vascular Stenosis and Remodeling in Moyamoya Disease.

Authors:  Brandon M Fox; Kirsten B Dorschel; Michael T Lawton; John E Wanebo
Journal:  Front Neurol       Date:  2021-09-03       Impact factor: 4.003

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.