Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency

Authors

  • Annie M. E. Bye MBBS, FRACP,

    1. Department of Neurology, Prince of Wales Children's Hospital, Sydney, Australia
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  • Dr. Frederick Andermann MD, FRCP(C),

    Corresponding author
    1. Department of Neurology and Neurosurgery, McGill University, Quebec, Canada
    2. Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
    • Montreal Neurological Hospital, 3801 University St, Montreal, Quebec, Canada H3A 2B4
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  • Yves Robitaille MD,

    1. Department of Neurology and Neurosurgery, McGill University, Quebec, Canada
    2. Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
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  • M. Oliver MBBS,

    1. Department of Neurology and Neurosurgery, McGill University, Quebec, Canada
    2. Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
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  • T. Bohane MBBS, FRACP,

    1. Department of Gastroenterology, Prince of Wales Children's Hospital, Sydney, Australia
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  • Eva Andermann MD, PhD, FCCMG

    1. Department of Neurology and Neurosurgery, McGill University, Quebec, Canada
    2. Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
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Abstract

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.

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