title: Coeliac disease, epilepsy, and cerebral calcifications: association with TG6 autoantibodies.
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.
authors: Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia. alexandra.johnson@sesiahs.health.nsw.gov.au
authors: Alexandra M
authors: AM
authors: Johnson
authors: Russell C
authors: RC
authors: Dale
authors: Louise
authors: L
authors: Wienholt
authors: Marios
authors: M
authors: Hadjivassiliou
authors: Daniel
authors: D
authors: Aeschlimann
authors: John A
authors: JA
authors: Lawson
mesh_terms: D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000097:blood* / Q000150:complications; D002114:Calcinosis / Q000097:blood* / Q000150:complications; D002446:Celiac Disease / Q000097:blood* / Q000150:complications; D002675:Child, Preschool; D004827:Epilepsy / Q000097:blood* / Q000150:complications; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood*; D008297:Male; D014057:Tomography, X-Ray Computed; D011503:Transglutaminases / Q000276:immunology*
chemical_list: D007070:Immunoglobulin A; C532876:TGM6 protein, human; D011503:Transglutaminases