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Dev Med Child Neurol. 2013 Jan;55(1):90-3. doi: 10.1111/j.1469-8749.2012.04369.x. Epub 2012 Jul 31.

Coeliac disease, epilepsy, and cerebral calcifications: association with TG6 autoantibodies.

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  • 1Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia. alexandra.johnson@sesiahs.health.nsw.gov.au

Abstract

A 4-year-old boy presented with occipital seizures but normal initial neuroimaging and proved refractory to antiepileptic medications. On repeat neuroimaging after 1 year, he had developed bi-occipital calcification and was then found to have positive coeliac serology. He was diagnosed with coeliac disease, epilepsy, and cerebral calcifications (CEC) and became seizure free after starting the gluten-free diet. Positive antibody binding to neurons and glia was demonstrated on indirect immunofluorescence. High levels of immunoglobulin-A directed against transglutaminase isoenzyme 6 (TG6) were found in the patient's serum. The positive response to the diet, TG6 antibodies, and neuronal antibody binding suggest that CEC might be autoimmune in nature, as in other extra-intestinal manifestations of gluten-related diseases, such as gluten ataxia.

© 2012 The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

PMID:
22845673
[PubMed - indexed for MEDLINE]
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