Fulminant bilateral cerebral infarction caused by paradoxical embolism in a patient with protein S Ala525Val substitution. Issue 3 (9th January 2015)

• Record Type: Journal Article
• Authors: Yoshikawa, Yoji; Kitayama, Jiro; Ishikawa, Hiromi; Nakamura, Asako; Taniguchi, Fumina; Morishita, Eriko; Ago, Tetsuro; Nakane, Hiroshi; Kitazono, Takanari
• Is Part Of: Neurology and clinical neuroscience. Volume 3:Issue 3(2015)
• Page Start: 105
• Page End: 107
• Publication Date: 2015-01-09
• Subjects: Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.156
• Languages: English
• ISSNs: 2049-4173

Abstract

<abstract abstract-type="main" id="ncn3156-abs-0001"> <title>Abstract</title> <p>We report a 42‐year‐old woman who developed sudden fulminant cerebral infarction in the bilateral middle cerebral artery territories, causing status epilepticus and a decreased level of consciousness. Investigation showed thrombus in the right soleus vein and a patent foramen ovale, but no obvious embolic source, such as atrial fibrillation or a carotid or cerebral artery atherosclerotic lesion. Blood coagulation tests showed decreased levels of free protein S (25%) and total protein S (52%), and decreased protein S activity (15%). The patient was diagnosed with cerebral infarction as a result of paradoxical embolism, and type I protein S deficiency. DNA sequencing identified a novel point mutation in the <italic>PROS1</italic> gene, leading to the amino acid substitution, Ala525Val. It should be noted that this protein S mutation can cause thrombophilia and cerebral infarction.</p> </abstract>