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Celiac disease epilepsy occipital calcifications

Epilepsy with bilateral occipital calcifications, Bilateral occipital calcifications with epilepsy, Familial unilateral and bilateral occipital calcifications and epilepsy

Overview

A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.

Symptoms - Celiac disease epilepsy occipital calcifications

  • Cerebral calcifications
  • Seizures - partial or generalized
  • Celiac disease
  • Malabsorption
  • Gastrointestinal tract abnormality
  • Anemia
  • Impaired vision

Causes - Celiac disease epilepsy occipital calcifications

Etiology of Celiac disease, epilepsy and cerebral calcification syndrome is unclear. It is not known if epilepsy and/or cerebral calcifications are a consequence of Celiac disease. Celiac disease is an immune auto-inflammatory reaction occurring in predisposed gluten-intolerant individuals. It originates from the jejunal mucosa and spreads to the lamina propria, leading to the observed histopathological features (crypt hyperplasia, jejunal villous atrophy and inflammatory infiltrate in the lamina propria). Celiac disease may induce autoimmune responses outside the gastrointestinal tract. Circulating activated T cells may cross the blood-brain barrier and be toxic to myelin or myelin-producing cells. As for isolated Celiac disease, Celiac disease, epilepsy and cerebral calcification syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.

Prevention - Celiac disease epilepsy occipital calcifications

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.

Diagnosis - Celiac disease epilepsy occipital calcifications

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.

Prognosis - Celiac disease epilepsy occipital calcifications

Early diagnosis and good compliance of gluten-free diet greatly improve outcome. On the contrary, if treatment is delayed, epilepsy may be more severe and epileptic encephalopathy may develop.

Treatment - Celiac disease epilepsy occipital calcifications

Celiac disease requires life-long observance of a gluten-free diet (GFD), leading to clinical and histopathological resolution of symptoms.

Resources - Celiac disease epilepsy occipital calcifications

  • NIH
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