Cec Syndrome –A Rare Manifestation of Coeliac Disease

Editor, We report a case of incomplete CEC syndrome, a rare condition comprising coeliac disease and bilateral occipital calcification. There are no previous published reports of CEC syndrome in Northern Ireland. Case Report: A thirty-six year old lady presented following two episodes of facial numbness of ten minutes duration, one of which was associated with blurred vision. There was a three-kilogram weight loss over six months and there was no significant past medical history. Clinical examination was unremarkable. Routine blood investigations revealed a mildly decreased folate level and a CT scan of the brain revealed cortical-based bilateral serpiginous calcification. An MRI scan showed no evidence of Sturge-Weber syndrome, a prominent cause of cerebral calcification, which is characterised by prominent deep cerebral veins, focal atrophy, ipsilateral choroid plexus enlargement and enhancement at the sites of calcification. On further investigation coeliac disease was confirmed by a raised serum anti-transglutaminase and anti-endomysial anti-bodies, and villous atrophy and intra-epithelial lymphocytes on duodenal biopsy. A gluten-free diet was commenced and there were no subsequent similar symptoms. A diagnosis of incomplete CEC syndrome was reached on the basis of radiological and clinical findings Discussion: CEC syndrome is a rare condition characterized by coeliac disease (C), epilepsy (E) and cerebral calcification (C) that can present in any age group. C: Coeliac disease is an inflammatory disease of the upper small intestine resulting from gluten ingestion in genetically susceptible individuals. Classic signs are related to the gastrointestinal tract. Extra intestinal manifestations include dermatitis herpetiformis, anaemia, infertility, metabolic bone diseases, coagulopathy, psychiatric syndromes and neurological disorders 1. Neurological complications are estimated to occur in six to ten percent of patients with coeliac disease 2. E: In contrast to incomplete CEC syndrome, a diagnosis of complete CEC syndrome includes a history of seizures. Seizures associated with CEC syndrome are usually occipital in origin and of focal or complex partial type. They may present as paroxysmal visual manifestations such as blurred vision, loss of focus, visualised coloured dots, and brief stereotyped complex visual hallucinations 3. The seizures associated with this type of calcification can be difficult to treat. However, in some of the cases in the literature, seizure control was improved after institution of a gluten-free diet with folic acid supplements 4 , which also seems to have occurred in our case as evidenced by no recurrence of symptoms for a year. C: Cerebral calcification in CEC syndrome is classically represented …