Coeliac disease, epilepsy and cerebral calcifications

Area of Science:

• Neurology
• Gastroenterology
• Genetics

Background:

• Coeliac disease, epilepsy, and cerebral calcifications (CEC) syndrome is a rare condition.
• Epilepsy in CEC syndrome often presents with occipital seizures and can range from benign to severe epileptic encephalopathy.
• The condition appears geographically restricted, with most reported cases originating from Italy, Spain, and Argentina.

Purpose of the Study:

• To explore the nature of CEC syndrome, including its genetic basis and relationship with coeliac disease.
• To investigate the potential triggers and mechanisms underlying seizures and cerebral calcifications in CEC syndrome.
• To evaluate the efficacy of a gluten-free diet (GFD) in managing CEC syndrome.

Main Methods:

• Literature review of 171 reported cases of CEC syndrome.
• Analysis of clinical characteristics, including seizure types, disease progression, and response to GFD.
• Examination of genetic associations (HLA-DQ2, HLA-DQ8) and potential pathogenetic mechanisms involving immune reactions and nutritional deficiencies.

Main Results:

• Gluten-free diet efficacy is inversely related to epilepsy duration and patient age.
• Patients with cerebral calcifications and coeliac disease but without epilepsy represent an incomplete CEC syndrome form.
• CEC syndrome may be a genetically determined entity, possibly a Sturge-Weber-like phacomatosis, linked to HLA class II genes.

Conclusions:

• CEC syndrome is likely a genetically determined, non-inherited, geographically restricted condition influenced by environmental factors.
• An immune reaction to gliadin in gluten-intolerant individuals with specific HLA phenotypes may trigger seizures and cerebral calcifications.
• Long-term untreated coeliac disease leading to folic acid deficiency could also contribute to calcifications.