CEC syndrome

CEC syndrome refers to the combination of coeliac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and coeliac disease without epilepsy are considered as having an incomplete form of CEC syndrome ¹.

Epidemiology

Most cases are reported from Italy, Spain, and Argentina, suggesting a geographically-restricted condition.

Clinical presentation

Most common presentation is occipital epilepsy in childhood. Epilepsy can be drug-resistant, and may be generalised and/or partial seizures with mental deterioration. Sometimes it evolves into a severe epileptic encephalopathy. 

Pathology

It is a genetic, non-inherited, ethnically and geographically-restricted syndrome associated with environmental factors.The seizures and cerebral calcifications have been suggested to be related to immune reaction originating from the jejunal mucosa, triggered by gliadin in gluten-intolerant subjects. Gluten-free diet efficacy seems to be inversely related to the duration of epilepsy and the young age of the patient. It is associated with the HLA-DQ2 and HLA-DQ8 genes.

Diagnosis

Diagnosis relies on EEG to characterise epileptic seizures, CT for bilateral occipital calcifications, laboratory findings (antiendomisium antibodies, antigliadin antibodies, anti-tissue-transglutaminase type 2 antibodies, HLA phenotype), and histopathological analysis of small bowel biopsy (jejunal mucosa villous atrophy).

Radiographic features 

CT/MRI show ^2-4:

• bilateral cortical and subcortical occipital calcification
• absence of lobar or hemispheric atrophy
• absence of contrast enhancement

The occipital calcifications are similar to those found in Sturge-Weber syndrome. It can be easily differentiated from Sturge-Weber syndrome both clinically and radiologically ^5:

• CEC syndrome shows no cutaneous signs of phakomatosis
• there is absence of lobar or hemispheric atrophy which is almost always present in Sturge-Weber syndrome
• constantly bilateral localisation of calcification, which is seen in <20% of patients with Sturge-Weber syndrome
• no contrast enhancement, which is always present in Sturge-Weber syndrome
• corticosubcortical locus of calcification, against the mainly cortical locus in Sturge-Weber syndrome

Treatment and prognosis

Dietary restriction (gluten-free diet) as in coeliac disease. There is no correlation between the seriousness of the epilepsy and the extent of the calcification. There is no clear correlation between the severity of the epilepsy and the presence or absence of coeliac disease either ⁵.

Differential diagnosis

• Sturge-Weber syndrome 

History and etymology

First described by Giuseppe Gobbi in 1988.