"It is a genetic, non-inherited, ethnically, and geographically-restricted syndrome associated with environmental factors. The seizures and cerebral calcifications have been suggested to be related to immune reaction originating from the jejunal mucosa, triggered by gliadin in gluten-intolerant subjects. Gluten-free diet efficacy seems to be inversely related to the duration of epilepsy and the young age of the patient. It is associated with the HLA-DQ2 and HLA-DQ8 genes."
"Diagnosis relies on EEG to characterise epileptic seizures, CT for bilateral occipital calcifications, laboratory findings (anti-endomysial antibodies, antigliadin antibodies, anti-tissue-transglutaminase type 2 antibodies, HLA phenotype), and histopathological analysis of small bowel biopsy (jejunal mucosa villous atrophy)."
"CEC (coeliac disease, epilepsy, and cerebral calcification) syndrome, also known as Gobbi syndrome, refers to the combination of coeliac disease, epilepsy, and bilateral occipital calcifications. Patients with cerebral calcifications and coeliac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1."
"Diagnosis relies on EEG to characterise epileptic seizures, CT for bilateral occipital calcifications, laboratory findings (anti-endomysial antibodies, antigliadin antibodies, anti-tissue-transglutaminase type 2 antibodies, HLA phenotype), and histopathological analysis of small bowel biopsy (jejunal mucosa villous atrophy)."
"Dietary restriction (gluten-free diet) as in coeliac disease. No correlation has been found between the seriousness of the epilepsy and the extent of the calcification. There is no clear correlation between the severity of the epilepsy and the presence or absence of coeliac disease either 5."