Case Report
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World J Gastroenterol. Jul 14, 2012; 18(26): 3472-3476
Published online Jul 14, 2012. doi: 10.3748/wjg.v18.i26.3472
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation
Elisa Fabbri, Lisa Rustignoli, Antonio Muscari, Giovanni M Puddu, Maria Guarino, Rita Rinaldi, Elena Minguzzi, Giacomo Caio, Marco Zoli, Umberto Volta
Elisa Fabbri, Lisa Rustignoli, Antonio Muscari, Giovanni M Puddu, Marco Zoli, Stroke Unit, Department of Internal Medicine, Aging and Nephrological Diseases, University of Bologna, 40138 Bologna, Italy
Maria Guarino, Rita Rinaldi, Elena Minguzzi, Neurology Unit, Department of Internal Medicine, Aging and Nephrological Diseases, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy
Giacomo Caio, Umberto Volta, Department of Digestive Diseases and Internal Medicine, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy
Author contributions: Fabbri E and Rustignoli L drafted the manuscript; Muscari A, Puddu GM, Guarino M, Rinaldi R and Minguzzi E were involved in the neurological assessment, care and follow-up of the patient; Caio G and Volta U performed the laboratory and clinical assessments concerning celiac disease and autoimmunity; Muscari A, Guarino M, Zoli M and Volta U critically revised the manuscript; all authors read and approved the final version.
Correspondence to: Antonio Muscari, MD, Stroke Unit, Department of Internal Medicine, Aging and Nephrological Diseases, University of Bologna, Via Albertoni, 15, 40138 Bologna, Italy. antonio.muscari@unibo.it
Telephone: +39-51-6362280 Fax: +39-51-6362210
Received: June 16, 2011
Revised: October 12, 2011
Accepted: May 12, 2012
Published online: July 14, 2012
Abstract

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 thalamo-capsular 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 immune-mediated mechanisms. CD should be kept in mind in the differential diagnosis of ischemic stroke in young patients.

Keywords: Celiac disease; Female; Methylenetetrahydrofolate reductase; Stroke; Vasculitis; Young