Rubens Gisbert Cury, M.D., and Camila Hobi Moreira, M.D.
N Engl J Med 2014; 370:e26April 17, 2014DOI: 10.1056/NEJMicm1311406
A 24-year-old man presented with a 10-year history of recurrent episodes of throbbing, occipital headache associated with complex visual symptoms, lasting from a few minutes to an hour. He had been treated for migraine, with little response. Routine blood tests revealed a mildly decreased folate level (2.2 ng per milliliter [5.0 nmol per liter]; reference range, 3.1 to 17.5 ng per milliliter [7.0 to 39.0 nmol per liter]), and a computed tomographic scan of the head revealed bilateral occipital calcification.
(Panels A and B). Laboratory testing revealed normal cerebrospinal fluid and elevated levels of serum IgA antitransglutaminase antibodies (45 U per milliliter; reference range, <10) and antiendomysial antibodies (titer, 1:40). He underwent endoscopy, and pathological evaluation of a jejunal-biopsy specimen revealed crypt hyperplasia, villous atrophy of the jejunal mucosa, and an increased number of intraepithelial lymphocytes. Treatment with a gluten-free diet, folic acid supplementation, and carbamazepine was initiated, and the patient’s condition improved, with remission of all symptoms. The combination of celiac disease, epilepsy, and cerebral calcification is a rare condition known as the CEC syndrome. Folate malabsorption is a suggested mechanism, because cerebral calcification can be seen in other conditions related to folate deficiency, such as treatment with methotrexate, congenital folate malabsorption, and the Sturge–Weber syndrome.
Rubens Gisbert Cury, M.D.
Camila Hobi Moreira, M.D.
University of São Paulo, São Paulo, Brazil
rubens_cury@usp.