Rare Endocrinology News

Disease Profile

Epilepsy occipital calcifications

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 >

US Estimated

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Epilepsy with bilateral occipital calcifications; Bilateral occipital calcifications with epilepsy; Familial unilateral and bilateral occipital calcifications and epilepsy;

Categories

Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1459

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, antitissue-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.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Celiac disease
0002608

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Epilepsy occipital calcifications. Click on the link to view a sample search on this topic.