Coeliac disease, epilepsy, and cerebral calcifications: Association with TG6 autoantibodies

Johnson, Alexandra M., Dale, Russell C., Wienholt, Louise, Hadjivassiliou, Marios, Aeschlimann, Daniel ORCID: https://orcid.org/0000-0003-0930-7706 and Lawson, John A. 2013. Coeliac disease, epilepsy, and cerebral calcifications: Association with TG6 autoantibodies. Developmental Medicine & Child Neurology 55 (1) , pp. 90-93. 10.1111/j.1469-8749.2012.04369.x

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Dentistry
Subjects:	Q Science > QR Microbiology > QR180 Immunology R Medicine > RK Dentistry
Publisher:	Wiley-Blackwell
Funders:	Coeliac UK, BRET
Last Modified:	24 Oct 2022 10:57
URI:	https://orca.cardiff.ac.uk/id/eprint/46517

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