Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia.
作者信息
Magriço Marta, Cabral Pedro, Bugalho Paulo
机构信息
Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal
Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.
出版信息
BMJ Case Rep. 2022 Jul 20;15(7):e250714. doi: 10.1136/bcr-2022-250714.
Abstract
摘要
相似文献
1
Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia.脑腱黄瘤病：一种罕见的可治疗性共济失调病因的临床及影像学线索
BMJ Case Rep. 2022 Jul 20;15(7):e250714. doi: 10.1136/bcr-2022-250714.
2
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.脑腱黄瘤病：代谢性共济失调的可治疗病因。
J Assoc Physicians India. 2007 Sep;55:655-7.
3
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.脑腱性黄瘤病的广泛谱系：一例罕见但可治疗疾病的病例报告
Clin Neurol Neurosurg. 2016 Apr;143:1-3. doi: 10.1016/j.clineuro.2016.01.032. Epub 2016 Feb 4.
4
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.一种可治疗的进行性共济失调和腭震颤的罕见病因。
Tremor Other Hyperkinet Mov (N Y). 2018 May 17;8:538. doi: 10.7916/D8X07Q2N. eCollection 2018.
5
Cerebrotendinous xanthomatosis in three siblings from a Chinese family.来自一个中国家庭的三兄弟姐妹患脑腱黄瘤病。
Singapore Med J. 2001 Jan;42(1):30-2.
6
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.对鹅去氧胆酸和利鲁唑有反应的脑腱黄瘤病共济失调
J Clin Neurosci. 2018 Jul;53:263-264. doi: 10.1016/j.jocn.2018.04.043. Epub 2018 May 3.
7
[Cerebrotendinous xanthomatosis is a rare disorder, which requires a specific treatment].脑腱黄瘤病是一种罕见的疾病，需要特定的治疗方法。
Ugeskr Laeger. 2013 Jan 28;175(5):285-6.
8
Look carefully to the heels! A potentially treatable cause of spastic paraplegia.仔细观察足跟！痉挛性截瘫一个可能可治疗的病因。
J Inherit Metab Dis. 2015 Mar;38(2):363-4. doi: 10.1007/s10545-014-9745-0. Epub 2014 Aug 12.
9
Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.口下颌肌张力障碍作为脑腱黄瘤病的一种并发症。
Mov Disord. 2009 Jul 15;24(9):1397-9. doi: 10.1002/mds.22585.
10
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.诊断挑战：一例迟发型脊髓型脑腱黄瘤病病例
Neurology. 2019 Feb 26;92(9):438-439. doi: 10.1212/WNL.0000000000007015.
引用本文的文献
1
Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings.脑腱黄瘤病：一种具有特征性影像学表现的罕见神经退行性疾病。
Radiol Case Rep. 2025 Jun 12;20(9):4347-4351. doi: 10.1016/j.radcr.2025.05.040. eCollection 2025 Sep.
本文引用的文献
1
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.
Neurology. 2019 Jan 8;92(2):61-62. doi: 10.1212/WNL.0000000000006721. Epub 2018 Dec 7.
2
A neurological rarity not to be missed: cerebrotendinous xanthomatosis.一种不容错过的罕见神经系统疾病：脑腱性黄瘤病。
Pract Neurol. 2011 Oct;11(5):296-300. doi: 10.1136/practneurol-2011-000003.
3
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.脑腱黄瘤病的临床与分子诊断及CYP27A1基因突变综述
Neurol Sci. 2006 Jun;27(2):143-9. doi: 10.1007/s10072-006-0618-7.
4
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.脑腱黄瘤病患者存在腹泻且无肌腱黄瘤
Arch Neurol. 2000 Apr;57(4):520-4. doi: 10.1001/archneur.57.4.520.
Zotero 插件