Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report

被引:0
|
作者
Pablo A. Ledesma
Juan Carlos Guerra
Manuel Burbano
Patricio Procel
Luis Alberto Pedroza
机构
[1] Massachusetts General Hospital,
[2] Harvard Medical School,undefined
[3] Universidad San Francisco de Quito,undefined
[4] Escuela de Medicina,undefined
[5] Hospital de los Valles,undefined
[6] Baylor College of Medicine,undefined
来源
Journal of Medical Case Reports | / 13卷
关键词
Case report; Whole exome sequencing; Acute disseminated encephalomyelitis; ADEM; ADEM-ON; Optic neuritis; Periodic fever syndrome; Familial cold autoinflammatory syndrome; FCAS2;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] Concurrent acute disseminated encephalomyelitis and Guillain-Barre syndrome in a child
    Deshmukh, Isha S.
    Bang, Akash B.
    Jain, Manish A.
    Vilhekar, Krishna Y.
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2015, 10 (01) : 61 - 63
  • [22] Unihemispheric Acute Disseminated Encephalomyelitis: A Case Report
    Durmus, Hacer
    Turkoglu, Recai
    Tuzun, Erdem
    NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, 2010, 47 (02): : 166 - 168
  • [23] A Rare Case of Dengue Fever Presenting With Acute Disseminated Encephalomyelitis
    Farooque, Umar
    Pillai, Bharat
    Karimi, Sundas
    Cheema, Asfand Yar
    Saleem, Noman
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2020, 12 (08)
  • [24] Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report
    Liu, Ziqin
    Chen, Xiaobo
    TRANSLATIONAL PEDIATRICS, 2022, 11 (04) : 589 - 594
  • [25] Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccination
    Nagaratnam, Sai A.
    Ferdi, Alex C.
    Leaney, John
    Lee, Raymond Lam Kwong
    Hwang, Yun Tae
    Heard, Robert
    BMC NEUROLOGY, 2022, 22 (01)
  • [26] Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccination
    Sai A. Nagaratnam
    Alex C. Ferdi
    John Leaney
    Raymond Lam Kwong Lee
    Yun Tae Hwang
    Robert Heard
    BMC Neurology, 22
  • [27] The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report
    Triono, Agung
    Iskandar, Kristy
    Nugrahanto, Andika Priamas
    Hadiyanto, Marissa Leviani
    Gunadi
    Herini, Elisabeth Siti
    ANNALS OF MEDICINE AND SURGERY, 2022, 73
  • [28] A Case Report of Plasmapheresis in the Treatment of Acute Disseminated Encephalomyelitis
    Shinozaki, Koichiro
    Oda, Shigeto
    Sadahiro, Tomohito
    Nakamura, Masataka
    Abe, Ryuzo
    Nakamura, Shiho
    Hattori, Noriyuki
    Hirano, Shigeki
    Hattori, Takamichi
    Hirasawa, Hiroyuki
    THERAPEUTIC APHERESIS AND DIALYSIS, 2008, 12 (05) : 401 - 405
  • [29] Acute disseminated encephalomyelitis following herpesvirus encephalitis in an adult: a case report
    Kobayashi, Yuya
    Kasuga, Kazuki
    Shimizu, Yusaku
    ACTA NEUROLOGICA BELGICA, 2024,
  • [30] A Case Report on Acute Disseminated Encephalomyelitis in A Young Immunocompetent
    Roopavathy, J. Rathi
    Devi, A. J. Manjula
    Shanthi, B.
    Kalaiselvi, V. S.
    RESEARCH JOURNAL OF PHARMACEUTICAL BIOLOGICAL AND CHEMICAL SCIENCES, 2015, 6 (06): : 274 - 276