Coeliac Disease and Epilepsy with Posterior Cerebral Calcifications: A Causal Association

Eight patients (4 males, 4 females) affected by epilepsy with cerebral calcifications mainly located in the posterior region were subjected to a battery of tests including an intestinal biopsy. Our aim was to find out whether or not all of the patients also suffered from coeliac disease (CD). CD was found in 6 of the 8 patients tested. This result together with other individual cases reported in the literature suggests that the triad of diseases (epilepsy, posterior cerebral calcifications and CD) are causally related. Folate deficiencies, present only in the cases of malabsorption and absent in the others, did not appear to be a determining factor for the presence of calcifications. The possibility that the calcifications were due to the Sturge-Weber syndrome was also excluded and hence their etiology remains un-known. The same HLA phenotype was found in all the 8 patients, including the 2 cases without coeliac disease. This suggests that a disorder of the immune system lies at the basis of these diseases. Our results suggest that particular attention should be paid to the search for CD in all patients with epilepsy and cerebral calcifications. Further genetic studies are needed to better understand the role played by genetic factors in the etiopathogenesis of these multifactorial diseases.