Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

被引:9
|
作者
Johannes Skorpen
Ingrid B Helland
Bjørn Tennøe
机构
[1] Ålesund Hospital,Department of Paediatric Medicine
[2] Child Habilitation Unit,Children’s Department
[3] Oslo university Hospital,Department of Radiology
[4] Rikshospitalet,undefined
[5] Oslo university Hospital,undefined
[6] Rikshospitalet,undefined
关键词
Niemann-Pick disease type C; Infant; Miglustat; Treatment; Seizures; Anti-epileptic;
D O I
10.1186/1752-1947-6-383
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C
    Di Rocco, Maja
    Dardis, Andrea
    Madeo, Annalisa
    Barone, Rita
    Fiumara, Agata
    PEDIATRIC NEUROLOGY, 2012, 47 (01) : 40 - 43
  • [2] Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: A case report in Brazil
    Santos, M. L. F.
    Raskin, S.
    Telles, D. S.
    Loehr Junior, A.
    Liberalesso, P. B. N.
    Vieira, S. C.
    Cordeiro, M. L.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : S357 - S361
  • [3] Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: A case report
    Cuisset J.-M.
    Sukno S.
    Trauffler A.
    Latour P.
    Dobbelaere D.
    Michaud L.
    Vallée L.
    Journal of Medical Case Reports, 10 (1)
  • [4] Miglustat therapy in a case of early-infantile Niemann-Pick type C
    Usui, Miho
    Miyauchi, Akihiko
    Nakano, Yuko
    Nakamura, Sachie
    Jimbo, Eriko
    Itamura, Shinji
    Adachi, Kaori
    Nanba, Eiji
    Narita, Aya
    Yamagata, Takanori
    Osaka, Hitoshi
    BRAIN & DEVELOPMENT, 2017, 39 (10): : 886 - 890
  • [5] Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat
    Zarowski, Marcin
    Steinborn, Barbara
    Gurda, Barbara
    Dvorakova, Lenka
    Vlaskova, Hana
    Kothare, Sanjeev V.
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2011, 15 (01) : 84 - 87
  • [6] Miglustat: A Review of Its Use in Niemann-Pick Disease Type C
    Lyseng-Williamson, Katherine A.
    DRUGS, 2014, 74 (01) : 61 - 74
  • [7] Miglustat in Niemann-Pick disease type c (NPC)
    Wraith, Ed
    Vecchio, Darleen
    Prady, Helena
    Abel, Larry
    Patterson, Marc
    MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) : S43 - S43
  • [8] Miglustat: A Review of Its Use in Niemann-Pick Disease Type C
    Katherine A. Lyseng-Williamson
    Drugs, 2014, 74 : 61 - 74
  • [9] ONE YEAR TREATMENT WITH MIGLUSTAT IN INFANTILE NIEMANN-PICK TYPE C
    Bandeira, A.
    Morais, L.
    Santos, M.
    Martins, E.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S147 - S147
  • [10] Motion analysis of a child with Niemann-Pick disease type C treated with miglustat
    Paciorkowski, Alex R.
    Westwell, Melany
    Ounpuu, Sylvia
    Bell, Katharine
    Kagan, Jeanne
    Mazzarella, Cindy
    Greenstein, Robert M.
    MOVEMENT DISORDERS, 2008, 23 (01) : 124 - 128