Celiac disease-epilepsy-cerebral calcification syndrome

Celiac disease-epilepsy-cerebral calcification syndrome (CEC syndrome), also known as CEC syndrome or the celiac disease-epilepsy-occipital calcification syndrome, is a rare condition characterized by the triad of celiac disease (gluten-sensitive enteropathy), epilepsy, and bilateral cerebral calcifications predominantly located in the occipital and parieto-occipital regions of the brain. The syndrome primarily affects the gastrointestinal system, the central nervous system, and may also involve other organs. Seizures are typically occipital in origin and may manifest as visual disturbances, partial seizures, or generalized tonic-clonic episodes. The cerebral calcifications are typically bilateral and can be detected on CT scan. Patients often present with symptoms of celiac disease including chronic diarrhea, malabsorption, and failure to thrive, alongside neurological manifestations. The exact pathogenesis remains incompletely understood, but it is hypothesized that chronic folate deficiency and immune-mediated mechanisms related to gluten sensitivity may contribute to the cerebral calcifications and epilepsy. Some researchers suggest that prolonged exposure to gluten in genetically susceptible individuals triggers both the intestinal and neurological manifestations. The condition typically presents in childhood or adolescence, though adult-onset cases have been reported. Early diagnosis is important because a strict gluten-free diet may help control seizures and potentially prevent progression of cerebral calcifications, particularly when initiated early in the disease course. However, in many cases, epilepsy may become refractory to standard antiepileptic medications, especially if the gluten-free diet is not adopted early. Antiepileptic drugs are used to manage seizures, and nutritional supplementation (including folic acid) may be beneficial. The prognosis varies depending on the timing of diagnosis and adherence to dietary management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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