生物素酶缺乏症在儿童期表现为视神经脊髓炎谱系障碍的模仿疾病。
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
作者信息
Santoro Jonathan D, Paulsen Kelli C
机构信息
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California.
Department of Neurology, Keck School of Medicine at the University of Southern California, Los Angeles.
出版信息
JAMA Neurol. 2020 Oct 5;78(1):118-20. doi: 10.1001/jamaneurol.2020.3558.
Abstract
This study details a case of biotinidase deficiency mimicking neuromyelitis optica spectrum disorders and reviews prior cases of biotinidase deficiency that met Wingerchuck 2015 criteria for neuromyelitis optica spectrum disorder.
摘要
本研究详细介绍了一例模仿视神经脊髓炎谱系障碍的生物素酶缺乏症病例，并回顾了之前符合2015年Wingerchuck视神经脊髓炎谱系障碍标准的生物素酶缺乏症病例。
相似文献
1
Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.生物素酶缺乏症在儿童期表现为视神经脊髓炎谱系障碍的模仿疾病。
JAMA Neurol. 2020 Oct 5;78(1):118-20. doi: 10.1001/jamaneurol.2020.3558.
2
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.生物素酶缺乏症表现为视神经脊髓炎谱系疾病。
Brain Dev. 2020 Nov;42(10):762-766. doi: 10.1016/j.braindev.2020.07.007. Epub 2020 Jul 31.
3
Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.生物素酶缺乏症在视神经脊髓炎谱系障碍鉴别诊断中的作用
Mult Scler Relat Disord. 2020 Sep;44:102280. doi: 10.1016/j.msard.2020.102280. Epub 2020 Jun 10.
4
Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.全外显子组测序揭示沙特家族中导致视神经脊髓炎谱系障碍的基因存在一个错义变异c.1612C>T（p.Arg538Cys） 。
Front Pediatr. 2022 Feb 21;9:829251. doi: 10.3389/fped.2021.829251. eCollection 2021.
5
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.一种可治疗的模仿视神经脊髓炎谱系障碍的脊髓病和视力丧失病因：迟发性生物素酶缺乏症
Metab Brain Dis. 2017 Jun;32(3):675-678. doi: 10.1007/s11011-017-9984-5. Epub 2017 Mar 9.
6
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.模仿视神经脊髓炎的生物素酶缺乏症：成年期首次出现症状。
Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22.
7
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.4岁起病的模仿视神经脊髓炎的生物素酶缺乏症：一种可治疗的疾病。
Mult Scler. 2017 Jan;23(1):119-122. doi: 10.1177/1352458516646087. Epub 2016 Jul 11.
8
Prevalence and incidence of neuromyelitis optica spectrum disorder and multiple sclerosis in Korea.韩国视神经脊髓炎谱系障碍和多发性硬化症的患病率与发病率
Mult Scler. 2020 Dec;26(14):1837-1844. doi: 10.1177/1352458519888609. Epub 2019 Nov 21.
9
Updated diagnostic criteria for neuromyelitis optica spectrum disorder: Similar outcomes of previously separate cohorts.视神经脊髓炎谱系障碍的更新诊断标准：既往不同队列的相似结果
Mult Scler J Exp Transl Clin. 2018 Dec 6;4(4):2055217318815925. doi: 10.1177/2055217318815925. eCollection 2018 Oct-Dec.
10
Presentation of neuromyelitis optica spectrum disorder after more than twenty years of systemic sclerosis.系统性硬化症二十多年后出现视神经脊髓炎谱系障碍
Mult Scler Relat Disord. 2012 Oct;1(4):202-3. doi: 10.1016/j.msard.2012.04.002. Epub 2012 Jun 20.
引用本文的文献
1
Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.生物素酶缺乏症所致视神经病变：一例报告及文献复习
Neuroophthalmology. 2025 Feb 18;49(3):224-231. doi: 10.1080/01658107.2024.2424209. eCollection 2025.
2
Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.生物素酶缺乏症：一例具有视神经脊髓炎样表现的突尼斯病例报告及文献综述。
Case Rep Neurol Med. 2025 Mar 25;2025:7003370. doi: 10.1155/crnm/7003370. eCollection 2025.
3
"Lupus Myelitis" Revisited: A Retrospective Single-Center Study of Myelitis Associated With Rheumatologic Disease.“狼疮性脊髓炎”再探讨：风湿性疾病相关脊髓炎的回顾性单中心研究。
Neurol Neuroimmunol Neuroinflamm. 2025 Jan;12(1):e200329. doi: 10.1212/NXI.0000000000200329. Epub 2024 Oct 23.
4
Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.生物素稳态与人类疾病：最新发现与展望。
Int J Mol Sci. 2024 Jun 14;25(12):6578. doi: 10.3390/ijms25126578.
5
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings.复发型脑白质病与亚临床视神经病变：源自全国多发性硬化症学会病例会议记录。
Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200194. doi: 10.1212/NXI.0000000000200194. Epub 2024 Jan 5.
6
Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!与严重生物素酶缺乏相关的伴有视神经炎的纵向广泛横贯性脊髓炎：类视神经脊髓炎谱系障碍！
Ann Indian Acad Neurol. 2023 Sep-Oct;26(5):795-798. doi: 10.4103/aian.aian_697_23. Epub 2023 Oct 5.
7
Non-demyelinating disorders mimicking and misdiagnosed as NMOSD: a literature review.模拟和误诊为 NMOSD 的非脱髓鞘疾病：文献综述。
Eur J Neurol. 2023 Oct;30(10):3367-3376. doi: 10.1111/ene.15983. Epub 2023 Jul 19.
本文引用的文献
1
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.一种可治疗的模仿视神经脊髓炎谱系障碍的脊髓病和视力丧失病因：迟发性生物素酶缺乏症
Metab Brain Dis. 2017 Jun;32(3):675-678. doi: 10.1007/s11011-017-9984-5. Epub 2017 Mar 9.
2
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.4岁起病的模仿视神经脊髓炎的生物素酶缺乏症：一种可治疗的疾病。
Mult Scler. 2017 Jan;23(1):119-122. doi: 10.1177/1352458516646087. Epub 2016 Jul 11.
3
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.生物素酶缺乏症表现为 7 岁男孩反复性脊髓病：文献复习
Pediatr Neurol. 2011 Oct;45(4):261-4. doi: 10.1016/j.pediatrneurol.2011.06.010.
4
Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients.3例中国患者中与生物素酶缺乏相关的脊髓脱髓鞘病变
J Child Neurol. 2007 Feb;22(2):156-60. doi: 10.1177/0883073807300307.
5
Delayed-onset profound biotinidase deficiency.迟发性严重生物素酶缺乏症
J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0.
6
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.生物素酶缺乏症晚期表现为急性视力丧失和步态障碍。
Dev Med Child Neurol. 1997 Dec;39(12):830-1. doi: 10.1111/j.1469-8749.1997.tb07552.x.
Zotero 插件