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Fulminant bilateral cerebral infarction caused by paradoxical embolism in a patient with protein S Ala525Val substitution
Author(s) -
Yoshikawa Yoji,
Kitayama Jiro,
Ishikawa Hiromi,
Nakamura Asako,
Taniguchi Fumina,
Morishita Eriko,
Ago Tetsuro,
Nakane Hiroshi,
Kitazono Takanari
Publication year - 2015
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.156
Subject(s) - medicine , cerebral infarction , cardiology , thrombus , patent foramen ovale , infarction , thrombophilia , protein c deficiency , thrombosis , venous thrombosis , ischemia , myocardial infarction , migraine
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 PROS 1 gene, leading to the amino acid substitution, Ala525Val. It should be noted that this protein S mutation can cause thrombophilia and cerebral infarction.