Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation

查看全文 作　　者：Elisa [1]Fabbri;Lisa [1]Rustignoli;Antonio [1]Muscari;Giovanni M [1]Puddu;Maria [2]Guarino;Rita [2]Rinaldi;Elena [2]Minguzzi;Giacomo [3]Caio;Marco [1]Zoli;Umberto [3]Volta

机构地区：[1]Stroke Unit,Department of Internal Medicine,Aging and Nephrological Diseases,University of Bologna,40138 Bologna,Italy;[2]Neurology Unit,Department of Internal Medicine,Aging and Nephrological Diseases,S.Orsola-Malpighi Hospital,40138 Bologna,Italy;[3]Department of Digestive Diseases and Internal Medicine,S.Orsola-Malpighi Hospital,40138 Bologna,Italy

出　　处：《World Journal of Gastroenterology》索引2012年第18卷第26期,共5页

摘　　要：Celiac disease(CD) is frequently associated with neurological disorders,but very few reports concern the association with ischemic stroke.A 26-year-old woman affected by CD with secondary amenorrhea,carrier of a homozygous 5,10-methylenetetrahydrofolate reductase mutation with hyperhomocysteinemia,was affected by two occipital ischemic strokes within a period of 5 mo.At the time of the second stroke,while she was being treated with folic acid,acetylsalicylic acid and a gluten-free diet,she had left hemianopsia,left hemiparesthesias,and gait imbalance.Brain magnetic resonance imaging showed a subacute right occipital ischemic lesion,which was extended to the dorsal region of the right thalamus and the ipsilateral thalamocapsular junction.Antitransglutaminase and deamidated gliadin peptide antibodies were no longer present,while antinuclear antibodies,antineuronal antibodies and immune circulating complexes were only slightly elevated.Since the patient was taking folic acid,her homocysteine levels were almost normal and apparently not sufficient alone to explain the clinical event.A conventional cerebral angiography showed no signs of vasculitis.Finally,rare causes of occipital stroke in young patients,such as Fabry's disease and mitochondrial myopathy,encephalomyopathy,lactic acidosis and stroke-like symptoms,were also excluded by appropriate tests.Thus,the most probable cause for the recurrent strokes in this young woman remained CD,although the mechanisms involved are still unknown.The two main hypotheses concern malabsorption(with consequent deficiency of vitamins known to exert neurotrophic and neuroprotective effects) and immunemediated mechanisms.CD should be kept in mind in the differential diagnosis of ischemic stroke in young patients. 关键词：基因突变 MTHFR 亚甲基四氢叶酸还原酶中风高同型半胱氨酸血症缺血女人乳糜

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Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation

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