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
  • [31] Acute disseminated encephalomyelitis in a young patient: A case report
    Codreanu-Balaban, Ramona Andreea
    Stuparu, Alina Zorina
    Musat, Daniela
    Baz, Radu-Andrei
    Baz, Radu
    Docu-Axelerad, Silviu
    Vranau, Diana-Marina
    Tase, Cristina Ramona
    Gogu, Anca Elena
    Jianu, Dragos Catalin
    Frecus, Corina Elena
    Muja, Lavinia-Florenta
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2024, 28 (02)
  • [32] Decompressive hemicraniectomy for acute disseminated encephalomyelitis: Case report
    Refai, D
    Lee, MC
    Goldenberg, FD
    Frank, JI
    NEUROSURGERY, 2005, 56 (04) : 872 - 872
  • [33] Was it a case of acute disseminated encephalomyelitis? A rare association following dengue fever
    Karoli, Ritu
    Siddiqi, Zeba
    Fatima, Jalees
    Maini, Sumit
    JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2013, 4 (03) : 318 - U173
  • [34] Pediatric acute bilateral optic neuritis: A case report
    Cheng, Yu
    Wu, Yuan
    BIOMEDICAL REPORTS, 2024, 20 (03)
  • [35] Persistent Presence of the Anti-Myelin Oligodendrocyte Glycoprotein Autoantibody in a Pediatric Case of Acute Disseminated Encephalomyelitis Followed by Optic Neuritis
    Miyauchi, Akihiko
    Monden, Yukifumi
    Watanabe, Meri
    Sugie, Hideo
    Morita, Mitsuya
    Kezuka, Takeshi
    Momoi, Mariko
    Yamagata, Takanori
    NEUROPEDIATRICS, 2014, 45 (03) : 196 - 199
  • [36] Miller Fisher syndrome and optic neuritis:: case report
    Carvalho, AAS
    Galväo, MDS
    Rocha, MSG
    Piccolo, AC
    Maia, SC
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2000, 58 (04) : 1115 - 1117
  • [37] Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report
    Chen, Lei
    Huang, Fei-Xiang
    WORLD JOURNAL OF CLINICAL CASES, 2021, 9 (04) : 912 - 918
  • [38] Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
    Picher-Martel, Vincent
    Labrie, Yvan
    Rivest, Serge
    Lace, Baiba
    Chrestian, Nicolas
    BMC NEUROLOGY, 2020, 20 (01)
  • [39] Acute disseminated encephalomyelitis after severe acute respiratory syndrome coronavirus 2 vaccination: a case report
    Cao, Liming
    Ren, Lijie
    ACTA NEUROLOGICA BELGICA, 2022, 122 (03) : 793 - 795
  • [40] Optic neuritis associated with Q fever: case report and literature review
    Ong, Chong
    Ahmad, Omar
    Senanayake, Sanjaya
    Buirski, Graham
    Lueck, Christian
    INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES, 2010, 14 : E269 - E273
12345