CEC syndrome refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1.
Most cases are reported from Italy, Spain, and Argentina, suggesting a geographically-restricted condition.
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.
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 relies on EEG to characterize 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).
CT/MRI show 2-4:
- bilateral cortical and subcortical occipital calcification
- absence of lobar or hemispheric atrophy
- absence of contrast enhancement
- 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 celiac 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 celiac disease either 5.
History and etymology
First described by Giuseppe Gobbi in 1988.
- 1.Gobbi G. Coeliac disease, epilepsy and cerebral calcifications. Brain & development. 27 (3): 189-200. doi:10.1016/j.braindev.2004.05.003 - Pubmed
- 2.Gobbi G, Bouquet F, Greco L, Lambertini A, Tassinari CA, Ventura A, Zaniboni MG. Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy. Lancet (London, England). 340 (8817): 439-43. Pubmed
- 3.Sunnikutty AP, Harding J, Nelson JC. CEC syndrome--a rare manifestation of coeliac disease. The Ulster medical journal. 77 (3): 205-6. Pubmed
- 4.Taylor I, Scheffer IE, Berkovic SF. Occipital epilepsies: identification of specific and newly recognized syndromes. Brain : a journal of neurology. 126 (Pt 4): 753-69. Pubmed
- 5.Magaudda A, Dalla Bernardina B, De Marco P, Sfaello Z, Longo M, Colamaria V, Daniele O, Tortorella G, Tata MA, Di Perri R. Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome. Journal of Neurology, Neurosurgery & Psychiatry. 1993 Aug 1;56(8):885-9.