MCID: EPL008
MIFTS: 10

Epilepsy Occipital Calcifications

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Epilepsy Occipital Calcifications

MalaCards integrated aliases for Epilepsy Occipital Calcifications:

Name: Epilepsy Occipital Calcifications 49 69
Familial Unilateral and Bilateral Occipital Calcifications and Epilepsy 49
Epilepsy with Bilateral Occipital Calcifications 49
Bilateral Occipital Calcifications with Epilepsy 49
Celiac Disease Epilepsy Occipital Calcifications 49

Classifications:



External Ids:

UMLS 69 C1856930

Summaries for Epilepsy Occipital Calcifications

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1459Disease definitionCeliac 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.EpidemiologyCEC was first described in 1992 and fewer than 200 cases have been reported so far.Clinical descriptionCeliac 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.EtiologyEtiology 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 methodsDiagnosis 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 diagnosisDifferential 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 treatmentCD 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.PrognosisEarly 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. Last updated: 4/1/2012

MalaCards based summary : Epilepsy Occipital Calcifications, also known as familial unilateral and bilateral occipital calcifications and epilepsy, is related to epilepsy with bilateral occipital calcifications. Affiliated tissues include t cells, thyroid and brain.

Related Diseases for Epilepsy Occipital Calcifications

Diseases related to Epilepsy Occipital Calcifications via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy with bilateral occipital calcifications 12.3

Symptoms & Phenotypes for Epilepsy Occipital Calcifications

Drugs & Therapeutics for Epilepsy Occipital Calcifications

Search Clinical Trials , NIH Clinical Center for Epilepsy Occipital Calcifications

Genetic Tests for Epilepsy Occipital Calcifications

Anatomical Context for Epilepsy Occipital Calcifications

MalaCards organs/tissues related to Epilepsy Occipital Calcifications:

38
T Cells, Thyroid, Brain

Publications for Epilepsy Occipital Calcifications

Variations for Epilepsy Occipital Calcifications

Expression for Epilepsy Occipital Calcifications

Search GEO for disease gene expression data for Epilepsy Occipital Calcifications.

Pathways for Epilepsy Occipital Calcifications

GO Terms for Epilepsy Occipital Calcifications

Sources for Epilepsy Occipital Calcifications

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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