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Celiac disease-epilepsy-cerebral calcification syndrome

MedGen UID:
341654
Concept ID:
C1856930
Disease or Syndrome
Synonyms: Epilepsy occipital calcifications; Epilepsy with bilateral occipital calcifications; Familial unilateral and bilateral occipital calcifications and epilepsy
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0009187
OMIM®: 226810
Orphanet: ORPHA1459

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. [from ORDO]

Clinical features

From HPO
Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCeliac disease-epilepsy-cerebral calcification syndrome
Follow this link to review classifications for Celiac disease-epilepsy-cerebral calcification syndrome in Orphanet.

Recent clinical studies

Etiology

Iijima Y, Kotani T, Sakuma T, Nakayama K, Akazawa T, Kishida S, Ueno K, Kajiwara D, Ohyama S, Iwata S, Sunami T, Sakashita K, Okuwaki S, Shiga Y, Minami S, Ohtori S
J Orthop Sci 2023 Nov;28(6):1214-1220. Epub 2022 Nov 9 doi: 10.1016/j.jos.2022.10.004. PMID: 36371339
Licchetta L, Bisulli F, Di Vito L, La Morgia C, Naldi I, Volta U, Tinuper P
Neurol Sci 2011 Dec;32(6):1069-74. Epub 2011 Jun 1 doi: 10.1007/s10072-011-0629-x. PMID: 21630037
Arroyo HA, De Rosa S, Ruggieri V, de Dávila MT, Fejerman N; Argentinean Epilepsy and Celiac Disease Group
J Child Neurol 2002 Nov;17(11):800-6. doi: 10.1177/08830738020170110801. PMID: 12585717
Cronin CC, Jackson LM, Feighery C, Shanahan F, Abuzakouk M, Ryder DQ, Whelton M, Callaghan N
QJM 1998 Apr;91(4):303-8. doi: 10.1093/qjmed/91.4.303. PMID: 9666954
Wright DH
Baillieres Clin Gastroenterol 1995 Jun;9(2):351-69. doi: 10.1016/0950-3528(95)90035-7. PMID: 7549031

Diagnosis

Arzani M, Jahromi SR, Ghorbani Z, Vahabizad F, Martelletti P, Ghaemi A, Sacco S, Togha M; School of Advanced Studies of the European Headache Federation (EHF-SAS)
J Headache Pain 2020 Feb 13;21(1):15. doi: 10.1186/s10194-020-1078-9. PMID: 32054443Free PMC Article
Julian T, Hadjivassiliou M, Zis P
J Neurol 2019 Jul;266(7):1557-1565. Epub 2018 Aug 23 doi: 10.1007/s00415-018-9025-2. PMID: 30167878Free PMC Article
Licchetta L, Bisulli F, Di Vito L, La Morgia C, Naldi I, Volta U, Tinuper P
Neurol Sci 2011 Dec;32(6):1069-74. Epub 2011 Jun 1 doi: 10.1007/s10072-011-0629-x. PMID: 21630037
Gobbi G
Brain Dev 2005 Apr;27(3):189-200. doi: 10.1016/j.braindev.2004.05.003. PMID: 15737700
Wright DH
Baillieres Clin Gastroenterol 1995 Jun;9(2):351-69. doi: 10.1016/0950-3528(95)90035-7. PMID: 7549031

Therapy

Julian T, Hadjivassiliou M, Zis P
J Neurol 2019 Jul;266(7):1557-1565. Epub 2018 Aug 23 doi: 10.1007/s00415-018-9025-2. PMID: 30167878Free PMC Article
Sharafuddin MJ, Nicholson RM, Kresowik TF, Amin PB, Hoballah JJ, Sharp WJ
J Vasc Surg 2012 Jun;55(6):1674-81. Epub 2012 Apr 18 doi: 10.1016/j.jvs.2011.12.013. PMID: 22516890
Della Nave R, Magaudda A, Michelucci R, Capizzi G, Calabrò A, Guerrini L, Gavazzi C, Diciotti S, Riguzzi P, Daniele O, Villari N, Tassinari CA, Mascalchi M
AJNR Am J Neuroradiol 2007 Mar;28(3):479-85. PMID: 17353316Free PMC Article
Hernández MA, Colina G, Ortigosa L
Seizure 1998 Feb;7(1):49-54. doi: 10.1016/s1059-1311(98)90008-5. PMID: 9548226
Wright DH
Baillieres Clin Gastroenterol 1995 Jun;9(2):351-69. doi: 10.1016/0950-3528(95)90035-7. PMID: 7549031

Prognosis

Kagami Y, Nakashima H, Ito K, Satake K, Tsushima M, Ouchida J, Morita Y, Ode Y, Segi N, Imagama S, Kanemura T
J Orthop Sci 2024 Mar;29(2):502-507. Epub 2023 Mar 11 doi: 10.1016/j.jos.2023.02.015. PMID: 36914482
Sarfaraz S, Anis S
Rev Recent Clin Trials 2020;15(3):240-243. doi: 10.2174/1574887115666200621184110. PMID: 32564761
Sharafuddin MJ, Nicholson RM, Kresowik TF, Amin PB, Hoballah JJ, Sharp WJ
J Vasc Surg 2012 Jun;55(6):1674-81. Epub 2012 Apr 18 doi: 10.1016/j.jvs.2011.12.013. PMID: 22516890
Hernández MA, Colina G, Ortigosa L
Seizure 1998 Feb;7(1):49-54. doi: 10.1016/s1059-1311(98)90008-5. PMID: 9548226
Gobbi G, Bouquet F, Greco L, Lambertini A, Tassinari CA, Ventura A, Zaniboni MG
Lancet 1992 Aug 22;340(8817):439-43. doi: 10.1016/0140-6736(92)91766-2. PMID: 1354781

Clinical prediction guides

Kagami Y, Nakashima H, Ito K, Satake K, Tsushima M, Ouchida J, Morita Y, Ode Y, Segi N, Imagama S, Kanemura T
J Orthop Sci 2024 Mar;29(2):502-507. Epub 2023 Mar 11 doi: 10.1016/j.jos.2023.02.015. PMID: 36914482
Sharafuddin MJ, Nicholson RM, Kresowik TF, Amin PB, Hoballah JJ, Sharp WJ
J Vasc Surg 2012 Jun;55(6):1674-81. Epub 2012 Apr 18 doi: 10.1016/j.jvs.2011.12.013. PMID: 22516890
Della Nave R, Magaudda A, Michelucci R, Capizzi G, Calabrò A, Guerrini L, Gavazzi C, Diciotti S, Riguzzi P, Daniele O, Villari N, Tassinari CA, Mascalchi M
AJNR Am J Neuroradiol 2007 Mar;28(3):479-85. PMID: 17353316Free PMC Article
Hernández MA, Colina G, Ortigosa L
Seizure 1998 Feb;7(1):49-54. doi: 10.1016/s1059-1311(98)90008-5. PMID: 9548226
Gobbi G, Bouquet F, Greco L, Lambertini A, Tassinari CA, Ventura A, Zaniboni MG
Lancet 1992 Aug 22;340(8817):439-43. doi: 10.1016/0140-6736(92)91766-2. PMID: 1354781

Recent systematic reviews

Julian T, Hadjivassiliou M, Zis P
J Neurol 2019 Jul;266(7):1557-1565. Epub 2018 Aug 23 doi: 10.1007/s00415-018-9025-2. PMID: 30167878Free PMC Article

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