Literature DB >> 10910629

Noonan syndrome associated with moyamoya disease: report of one case.

K T Tang1, W Yang, J Wong, K Y Lee.   

Abstract

We report a patient with Noonan syndrome who had repeated transient ischemic attacks. Moyamoya was diagnosed from the image study. In addition, flunarizine therapy seems to be effective in the prevention of recurrent symptoms and signs. The association of Noonan syndrome and Moyamoya has been reported. To the best of our knowledge, this is the second case report of an association of the Noonan syndrome and Moyamoya. Further study should ensue.

Entities:  

Mesh:

Year:  1999        PMID: 10910629

Source DB:  PubMed          Journal:  Acta Paediatr Taiwan        ISSN: 1608-8115


  4 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

2.  Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome.

Authors:  R A Dineen; R K Lenthall
Journal:  Neuroradiology       Date:  2004-03-18       Impact factor: 2.804

Review 3.  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

4.  Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage.

Authors:  Junwei Lan; Tianbao Zeng; Sheng Liu; Juhong Lan; Lijun Qian
Journal:  Eur J Med Res       Date:  2022-08-11       Impact factor: 4.981

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.