Another cause of vaccine encephalopathy: A case of Angelman syndrome

被引:7
作者
Novy, Jan [1 ,2 ]
Catarino, Claudia B. [1 ,2 ]
Chinthapalli, Krishna [1 ,2 ]
Smith, Shelagh M. [1 ,2 ]
Clayton-Smith, Jill [3 ]
Hennekam, Raoul C. M. [4 ]
Hammond, Peter [5 ]
Sisodiya, Sanjay M. [1 ,2 ]
机构
[1] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England
[2] Natl Soc Epilepsy, Gerrards Cross SL9 0RJ, Bucks, England
[3] St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester Biomed Res Ctr, Manchester M13 9WL, Lancs, England
[4] UVA, Dept Paediat & Translat Genet, Acad Med Ctr, Amsterdam, Netherlands
[5] UCL Inst Child Hlth, Mol Med Unit, London, England
基金
瑞士国家科学基金会;
关键词
Vaccination; Dravet syndrome; Angelman syndrome; Neuronal hyperexcitability; SEVERE MYOCLONIC EPILEPSY; DRAVET-SYNDROME; NATURAL-HISTORY; GENETIC-ASPECTS;
D O I
10.1016/j.ejmg.2012.01.008
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Dravet syndrome has been found recently as an important underlying condition in cases of alleged vaccine encephalopathy after pertussis vaccination, where vaccination seemed to have precipitated the occurrence of the disease without modifying the long-term course. We report on a patient diagnosed with Angelman syndrome in her fifth decade, in whom the intellectual disability and epilepsy had been assumed to be caused by a vaccine encephalopathy following smallpox vaccination. Clinical features of Angelman syndrome had faded away. The history of the present patient suggests that genetic conditions other than Dravet syndrome can be associated with an alleged vaccine encephalopathy. A history of vaccine encephalopathy is rare among patients with learning disability and refractory epilepsy (1.4% in our cohort), but it should lead to consideration of a comprehensive genetic work-up if Dravet syndrome is excluded. The early history of the patient, when available, should guide the investigations. Medicolegal aspects are also discussed. (c) 2012 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:338 / 341
页数:4
相关论文
共 19 条
  • [1] ANGELMAN H, 1965, DEV MED CHILD NEUROL, V7, P681
  • [2] De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy:: a retrospective study
    Berkovic, Samuel F.
    Harkin, Louise
    McMahon, Jacinta M.
    Pelekanos, James T.
    Zuberi, Sameer M.
    Wirrell, Elaine C.
    Gill, Deepak S.
    Iona, Xenia
    Mulley, John C.
    Scheffer, Ingrid E.
    [J]. LANCET NEUROLOGY, 2006, 5 (06) : 488 - 492
  • [3] Smallpox and smallpox vaccination - Neurological implications
    Booss, J
    Davis, LE
    [J]. NEUROLOGY, 2003, 60 (08) : 1241 - 1245
  • [4] The pharmacologic treatment of Dravet syndrome
    Chiron, Catherine
    Dulac, Olivier
    [J]. EPILEPSIA, 2011, 52 : 72 - 75
  • [5] Angelman syndrome: a review of the clinical and genetic aspects
    Clayton-Smith, J
    Laan, L
    [J]. JOURNAL OF MEDICAL GENETICS, 2003, 40 (02) : 87 - 95
  • [6] Dravet C., 2005, EPILEPTIC SYNDROMES, P89, DOI DOI 10.1016/B978-0-444-52891-9.00065-8
  • [7] Intellectual disability without epilepsy associated with STXBP1 disruption
    Hamdan, Fadi F.
    Gauthier, Julie
    Dobrzeniecka, Sylvia
    Lortie, Anne
    Mottron, Laurent
    Vanasse, Michel
    D'Anjou, Guy
    Lacaille, Jean Claude
    Rouleau, Guy A.
    Michaud, Jacques L.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (05) : 607 - 609
  • [8] Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
    Klassen, Tara
    Davis, Caleb
    Goldman, Alica
    Burgess, Dan
    Chen, Tim
    Wheeler, David
    McPherson, John
    Bourquin, Traci
    Lewis, Lora
    Villasana, Donna
    Morgan, Margaret
    Muzny, Donna
    Gibbs, Richard
    Noebels, Jeffrey
    [J]. CELL, 2011, 145 (07) : 1036 - 1048
  • [9] Evolution of epilepsy and EEG findings in Angelman syndrome
    Laan, LAEM
    Renier, WO
    Arts, WFM
    Buntinx, IM
    vanderBurgt, IJAM
    Stroink, H
    Beuten, J
    Zwinderman, KH
    vanDijk, JG
    Brouwer, OF
    [J]. EPILEPSIA, 1997, 38 (02) : 195 - 199
  • [10] The genetics of Dravet syndrome
    Marini, Carla
    Scheffer, Ingrid E.
    Nabbout, Rima
    Suls, Arvid
    De Jonghe, Peter
    Zara, Federico
    Guerrini, Renzo
    [J]. EPILEPSIA, 2011, 52 : 24 - 29