Document Detail

Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation.
MedLine Citation:
PMID:  22807619     Owner:  NLM     Status:  MEDLINE    
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.
Elisa Fabbri; Lisa Rustignoli; Antonio Muscari; Giovanni M Puddu; Maria Guarino; Rita Rinaldi; Elena Minguzzi; Giacomo Caio; Marco Zoli; Umberto Volta
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  18     ISSN:  2219-2840     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-07-18     Completed Date:  2012-12-06     Revised Date:  2014-05-20    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  3472-6     Citation Subset:  IM    
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MeSH Terms
Brain / pathology
Brain Ischemia / complications*,  genetics*
Celiac Disease / complications*,  genetics*
Hyperhomocysteinemia / genetics
Magnetic Resonance Imaging / methods
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Stroke / complications*,  genetics*
Reg. No./Substance:
EC Reductase (NADPH2)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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