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.

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

CEC syndrome is a rare condition characterized by coeliac disease (C), epilepsy (E) and cerebral calcification (C) that can present in any age group.

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 disorders¹. Neurological complications are estimated to occur in six to ten percent of patients with coeliac disease².

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 hallucinations³. 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 supplements⁴, which also seems to have occurred in our case as evidenced by no recurrence of symptoms for a year.

Cerebral calcification in CEC syndrome is classically represented radiologically by bilateral cortico-subcortical occipital calcifications without contrast enhancement and brain atrophy. Reduced central nervous system folate levels secondary to folate malabsorption is a suggested mechanism of calcification in CEC syndrome⁵ as folate deficiency is seen in all major causes of cerebral calcification: Sturge-Weber syndrome, intrathecal methotrexate administration, central nervous system irradiation in childhood leukaemia, congenital folate malabsorption, coeliac disease and some atypical forms of other phakomatoses⁵.

Fig CT Scan showing bilateral calcification in occipital region in a patient with coeliac disease.

Although CEC syndrome is very rare, it should be considered in individuals with coelic disease presenting with neurological symptoms.

The authors have no conflict of interest.

Arun P Sunnikutty, General Medicine.

Janet Harding, with an Interest in Diabetology and Endocrinology.

James C Nelson, General Medicine.