Question: what is epilepsy

Reference:
 Epilepsy occipital calcifications Epilepsy with bilateral occipital calcifications Bilateral occipital calcifications with epilepsy Familial unilateral and bilateral occipital calcifications and epilepsy Epilepsy with bilateral occipital calcifications Bilateral occipital calcifications with epilepsy Familial unilateral and bilateral occipital calcifications and epilepsy Celiac disease epilepsy occipital calcifications See More Summary The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1459 Disease definition Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. Epidemiology CEC was first described in 1992 and fewer than 200 cases have been reported so far. Clinical description Celiac disease (CD, see this term) and epilepsy manifest at a variable age, and CD is frequently diagnosed in late childhood, when specific investigations are performed secondary to observation of epileptic seizures and cerebral calcifications (CC). CD can present in a typical form characterized by onset in the first 2 years of life, chronic diarrhea, weight loss, short stature , anorexia, and, in some cases, irritability and vomiting. CD may also present in silent or latent forms, which are characterized - in the absence of gastrointestinal symptoms - by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. In CEC patients, CD usually evolves into latent, silent or paucisymptomatic forms. Epilepsy onset is between infancy and adulthood; most cases occur in early childhood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. In the latter, severe mental deterioration and/or learning disorders have been reported while a mild mental deterioration is observed in only one third of all CEC cases. CCs are seen in subcortical parieto-occipital regions. CC size does not change significantly over time, but in several cases, new CCs appeared in other regions. Patients with CCs and CD without epilepsy are considered as having an incomplete form of CEC. Some patients with epilepsy and CC without CD are considered to have a CEC with latent CD. Etiology Etiology of CEC is unclear. It is not known if epilepsy and/or CC are a consequence of CD. CD is an immune auto-inflammatory reaction occurring in predisposed gluten-intolerant individuals. It originates from the jejunal mucosa and spreads to the lamina propria, leading to the observed histopathological features (crypt hyperplasia, jejunal villous atrophy and inflammatory infiltrate in the lamina propria). CD may induce autoimmune responses outside the gastrointestinal tract. Circulating activated T cells may cross the blood-brain barrier and be toxic to myelin or myelin-producing cells. As for isolated CD, CEC is associated with the HLA-DQ2 and HLA-DQ8 genes . Diagnostic methods Diagnosis relies on anamnestic investigation and EEG to characterize epileptic seizures. Computed tomography (CT) imaging reveals CC. 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) enable identification of silent or latent CD in a patient with epileptic seizures and CC. Differential diagnosis Differential diagnosis of CEC includes Sturge-Weber syndrome (see this term) without nevus flammeus and other conditions such as congenital folate malabsorption or adverse effects of methotrexate, antifolate agents and radiotherapy of leukemic children. Management and treatment CD requires life-long observance of a gluten-free diet (GFD), leading to clinical and histopathological resolution of symptoms. A study has revealed that early CD diagnosis and treatment by GFD could prevent or reverse the epileptic disorder. Prognosis Early diagnosis and good compliance of GFD greatly improve outcome. On the contrary, if treatment is delayed, epilepsy may be more severe and epileptic encephalopathy may develop. Visit the Orphanet disease page for more resources. Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Celiac disease 0002608 Showing of Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 

Answer: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.  Epilepsy onset is between infancy and adulthood; most cases occur in early childhood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. In the latter, severe mental deterioration and/or learning disorders have been reported while a mild mental deterioration is observed in only one third of all CEC cases.