Summary
A syndrome associating celiac disease and epilepsy with cerebral calcifications that resemble those of the Sturge-Weber syndrome (but without port-wine facial naevus) was described in 1992 by Italian authors. Since then, more than 70 cases have been reported in the literature from more than ten different countries. The association is rare : given that epilepsy affects about 1 in 100 individuals, and that it has been found that celiac disease may be present in 1 in 44 patients with epilepsy (VS 2.4 to 4 in 1,000 in the general population), if occipital calcifications are included into the definition, the prevalence of the syndrome is lower than 1 in 5,000. No familial cases have been reported so far and the etiology remains unknown. Patients have symptoms suggesting malabsorptive syndrome during infancy but celiac disease is not always diagnosed before the onset of seizures. These start at mean age 7 years, being partial or generalized. A few serologic markers of celiac disease are to be looked for, especially antibody of the antiendomisium IgA type. Intestinal biopsy may reveal different levels of atrophy. Computed tomography shows bilateral, usually symmetrical occipital calcifications in the cortical or subcortical layers. A gluten-free diet, if started early after the onset of epilepsy, induces significant reduction in seizure frequency. Celiac disease should be ruled out in all cases of epilepsy, cerebral calcifications of unexplained origin and malabsorption syndrome in infancy. *Author : Dr E. Robert-Gnansia (April 2003)*.
