Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.
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PMID:Sneddon syndrome associated with Protein S deficiency. 2256 58

Cortical vein thrombosis (CVT) is rare and is most common in the third decade of life. Cerebral venous thrombosis may be due to a variety of pathologic conditions like deficiencies of protein S (PS), antithrombin III, protein C, factor V Leiden, prothrombin gene mutations and hyperhomocysteinemia. Protein S is a vitamin K-dependent anticoagulant present in plasma and prevent thrombosis in association with protein C. Lack of it results in venous thromboembolism (VTE) rarely causing thrombosis of cerebral venous sinuses. Our patient is a 35-year-old male who presented with focal seizures. MRI brain showed venous infarcts, and MR venogram showed extensive thrombosis of superior sagittal sinus. Later work up for hypercoagulable state showed significant Protein S deficiency.
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PMID:Protein S deficiency in a case of superor sagital vein thrombosis. 2313 45

Protein S (PS) is an antithrombotic plasma protein that plays essential roles in limiting thrombus formation in the anticoagulant system. Protein S deficiency is related with recurrent thrombosis. Here, the authors report a case of a term neonate with severe PS deficiency in year 2015, Imam Hospital, Tehran, Iran, that had seizures and intraventricular hemorrhage (IVH) since the age of 3 days. Nine-month follow-up did not show any developmental problems and MRI showed no hemorrhage.
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PMID:Intraventricular Hemorrhage in a Term Neonate: Manifestation of Protein S Deficiency- A Case Report. 2725 23