Cortical vascular abnormalities including pial angiomatosis and fibrosis of small veins are described in a 12 year old girl with celiac disease, occipital calcifications, and folate deficiency who underwent surgery for intractable complex partial seizures at the Montreal Neurological Institute, Canada. She was first diagnosed with Sturge-Weber syndrome without nevus flammeus. A right occipital resection was performed and was followed by seizure remission. Subsequently, low folic acid levels and iron deficiency anemia led to a diagnosis of celiac disease. Antigliadin antibodies were 182 arbitrary units (normal: < 25), and small bowel biopsy showed villous atrophy. A gluten-free diet with folate, vitamin E, and iron supplementation resulted in improved appetite and weight increase. [1]
COMMENT. The pathological abnormalities in this case were considered similar but not identical to those in Sturge-Weber syndrome. A syndrome of celiac disease, epilepsy, and cerebral calcifications, resembling Sturge-Weber syndrome, has been reported frequently, especially in Italy. [2, 3, 4]
Patients with occipital cerebral calcification of unknown cause and patients with celiac disease should receive an EEG, followed by an MRI if the EEG is abnormal. A new, rapid, noninvasive screening test for celiac disease, a strip-AGA (antigliadin antibody) test, performed on a drop of whole blood, is described from the Instituto per l’Infancia, Trieste, Italy. [5]