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World J Gastroenterol. 2012 Jul 14;18(26):3472-6. doi: 10.3748/wjg.v18.i26.3472.

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

Author information

1
Stroke Unit, Department of Internal Medicine, Aging and Nephrological Diseases, University of Bologna, 40138 Bologna, Italy.

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 ‚Äč‚Äčlevels 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

PMID:
22807619
PMCID:
PMC3396202
DOI:
10.3748/wjg.v18.i26.3472
[Indexed for MEDLINE]
Free PMC Article
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