A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.
- Cerebral calcifications
- Seizures - partial or generalized
- Celiac disease
- Gastrointestinal tract abnormality
- Impaired vision
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.
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.