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Maladie de Fahr : un cas familial révélé par une épilepsie

Fahr’s disease: A familial case revealed by epilepsy

  • Cas Clinique Commenté / Commented Case Report
  • Published:
Médecine Intensive Réanimation

Résumé

La maladie de Fahr ou calcifications idiopathiques des noyaux gris centraux associe des calcifications cérébrales sans cause identifiée et des signes cliniques variés à type de mouvements anormaux, syndrome psychiatrique, troubles cognitifs, syndrome cérébelleux ou épilepsie. Il existe des formes asymptomatiques. Il peut s’agir de formes sporadiques ou familiales. La transmission est autosomique dominante. Nous rapportons l’observation d’une patiente âgée de 32 ans, porteuse d’une maladie de Fahr à forme familiale révélée par une épilepsie.

Abstract

Fahr’s disease or idiopathic basal ganglia calcification is characterized by the presence of cerebral calcifications with no etiological cause. Clinical signs can be movement disorders, psychiatric signs, cognitive impairment, cerebellar syndrome or epilepsy. It can be asymptomatic. Sporadic and familial cases are reported. Transmission is autosomal dominant. We report a case of familial Fahr’s disease in a young woman revealed by epilepsy.

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Références

  1. Delacour A, (1850) Ossification des capillaires du cerveau. Ann Med Psychol 2: 458–461

    Google Scholar 

  2. Fahr T, (1930) Idiopathische verkalkung der hirngefasse. Zentralbl Allgemeine Pathol Anat 50: 129–133

    Google Scholar 

  3. Manyam BV, (2005) What is and what is not “Fahr’s disease”. Parkinsonism Relat Disord 11: 73–80

    Article  PubMed  Google Scholar 

  4. Nicolas G, Hannequin D, (2013) Calcifications idiopathiques des noyaux gris centraux (maladie de Fahr). Prat Neurol FMC 4: 143–150

    Article  Google Scholar 

  5. Nicolas G, Battini JL, Giovannini D, Sitbon M, Hannequin D, (2015) De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques: de nouvelles étapes. Rev Neurol 71: 685–687

    Article  Google Scholar 

  6. DuckettS Galle P, Escourolle R, Poirier J, Hauw JJ, (1977) Presence of zinc, aluminium, magnesium in striatopalledodentate (SPD) calcifications (Fahr’s disease): electron probe study. Acta Neuropathol 38: 7–10

    Article  Google Scholar 

  7. Miklossy J, Mackenzie IR, Dorovini-Zis K, Calne DB, Wszolek ZK, Klegeris A, Mc Geer PL, (2005) Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 109: 643–653

    Article  PubMed  Google Scholar 

  8. Le Ber I, Marie RM, Chabot B, Lalevee C, Defer GL, (2007) Neuropsychological and 18FDG-PET studies in a family with idiopathic basal ganglia calcifications. J Neurol Sci 258: 115–122

    Article  PubMed  Google Scholar 

  9. Morgante L, Trimarchi F, Benvenga S, (2002) Fahr’s disease. Lancet 359: 759

    Article  PubMed  Google Scholar 

  10. Ring HA, Serra-Mestres J, (2002) Neuropsychiaty of the basal ganglia. J Neurol Neurosurg Psychiatry 72: 12–21

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. López-Villegas D, Kulisevsky J, Deus J, Junqué C, Pujol J, Guardia E, Grau JM, (1996) Neuropsychological alterations in patients with computed tomography-detected basal ganglia calcification. Arch Neurol 53: 251–256

    Article  PubMed  Google Scholar 

  12. Manyam BV, Moore WD, Devleschoward AB, Anderson DR, Calne DB, (1992) Bilateral striopallidodentate calcinosis: cerebrospinal fluid. Imaging and electrophysiological studies. Ann Neurol 31: 379–384

    Article  CAS  PubMed  Google Scholar 

  13. Avrahami E, Cohn DF, Feibel M, Tadmor R, (1994) MRI demonstration and CT correlation of the brain in patients with idiopathic intracerebral calcification. J Neurol 241: 381–384

    Article  CAS  PubMed  Google Scholar 

  14. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, De Oliveira JR, Sobrido MJ, Quintans B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY, (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 44: 254–256

    Article  CAS  PubMed  Google Scholar 

  15. Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Marechal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D, (2013) Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 80: 181–187

    Article  CAS  PubMed  Google Scholar 

  16. Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR, (2013) Mutations in the gene encoding PDGFB cause brain calcifications in humans and mice. Nat Genet 45: 1077–1082

    Article  CAS  PubMed  Google Scholar 

  17. Legati A, Giovannini D, Nicolas G, Lopez-Sanchez U, Quintans B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, Castro-Fernandez C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vannaker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Gesschwind DH, Battini JL, Coppola G, (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 47: 579–581

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Nicolas G, Pottier C, Charbonnier C, Guyant-Marechal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D, (2013) Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain; 136: 3395–3407

    Article  PubMed  Google Scholar 

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  1. Réanimation neurologique, groupement hospitalier Est, 59 boulevard Pinel, F-69677, Bron, France

    C. Di Roio

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  1. C. Di Roio
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Di Roio, C. Maladie de Fahr : un cas familial révélé par une épilepsie. Méd. Intensive Réa 26, 443–445 (2017). https://doi.org/10.1007/s13546-017-1298-4

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  • DOI: https://doi.org/10.1007/s13546-017-1298-4

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