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Coeliac disease, epilepsy, and cerebral calcifications: association with TG6 autoantibodies
Author(s) -
JOHNSON ALEXANDRA M,
DALE RUSSELL C,
WIENHOLT LOUISE,
HADJIVASSILIOU MARIOS,
AESCHLIMANN DANIEL,
LAWSON JOHN A
Publication year - 2013
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2012.04369.x
Subject(s) - coeliac disease , autoantibody , epilepsy , medicine , serology , levetiracetam , ataxia , antibody , neuroimaging , tissue transglutaminase , pathology , gastroenterology , immunology , disease , biology , biochemistry , psychiatry , enzyme
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.