• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

一名年轻成年女性的橄榄体脑桥小脑变性:早发及罕见病程的病例报告

Olivopontocerebellar Degeneration in a Young Adult Female: A Case Report of Early Onset and an Uncommon Course.

作者信息

B Sanjaykanth, Ananthasayanam Jasvant Ram, S Sharmeela, Mohanakrishnan Arunkumar, Ramakrishnan Karthik Krishna

机构信息

Radiodiagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND.

出版信息

Cureus. 2024 Sep 14;16(9):e69384. doi: 10.7759/cureus.69384. eCollection 2024 Sep.

DOI:10.7759/cureus.69384
PMID:39403662
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11472210/
Abstract

Olivopontocerebellar degeneration (OPCD) primarily affects individuals in their mid to late adulthood, making its early onset in young adults, particularly postpartum women, a notable rarity. This case report describes OPCD in a 24-year-old female, underscoring the importance of considering neurodegenerative disorders in differential diagnoses even in younger patients. The unique presentation post childbirth adds to the sparse literature on the timing and triggers of neurodegenerative diseases in younger populations, especially in scenarios that might involve hormonal, vascular, or autoimmune shifts such as those occurring postpartum. The patient, a young female, presented with progressive cerebellar symptoms, including gait ataxia, characterized by unsteady walking, dysarthria, manifesting as slurred speech, and an intentional tremor noticeable during precise movements. Further clinical findings included nystagmus, involuntary eye movement, and dysmetria demonstrated in the finger-to-nose test. These symptoms progressively worsened after her first childbirth, emphasizing the progressive nature of the disease. The MRI findings were pivotal in diagnosing OPCD, revealing extensive cerebellar and pontine atrophy, particularly affecting the anterior lobe. The radiological features included significant thinning of the cerebellar folia, increased prominence of cerebellar fissures, and dilatation of the fourth ventricle. Based on these findings, the differential diagnosis included various other cerebellar ataxias, but the specific pattern of degeneration observed was indicative of OPCD. Therapeutically, the patient was managed with supportive physiotherapy and oral methylcobalamin supplementation aimed at slowing progression and alleviating symptoms. The outcome, while not curative, focuses on symptom management and improving quality of life. This case highlights the critical role of magnetic resonance imaging (MRI) in the early detection and diagnosis of OPCD, particularly in atypical patient populations such as young adults. It serves as a reminder to the medical community about the variability of presentation in neurodegenerative disorders and the need for vigilance in younger patients presenting with progressive neurological symptoms. Further, it emphasizes the importance of considering a comprehensive diagnostic approach, including detailed imaging studies when young patients present with atypical symptoms, to ensure accurate diagnosis and appropriate management.

摘要

橄榄体脑桥小脑萎缩(OPCD)主要影响中年及老年个体,在年轻成年人尤其是产后女性中早期发病极为罕见。本病例报告描述了一名24岁女性的OPCD,强调了即使在年轻患者的鉴别诊断中也需考虑神经退行性疾病的重要性。产后独特的表现增加了关于年轻人群神经退行性疾病发病时间和触发因素的稀少文献,特别是在可能涉及激素、血管或自身免疫变化的情况下,如产后发生的那些变化。该患者为年轻女性,出现进行性小脑症状,包括步态共济失调,表现为行走不稳,构音障碍,表现为言语含糊不清,以及在精确运动时出现的意向性震颤。进一步的临床发现包括眼球震颤、不自主眼球运动以及指鼻试验中显示的辨距不良。这些症状在她首次产后逐渐恶化,强调了疾病的进行性。MRI检查结果对诊断OPCD至关重要,显示广泛的小脑和脑桥萎缩,尤其影响前叶。放射学特征包括小脑叶片显著变薄、小脑裂增宽以及第四脑室扩张。基于这些发现,鉴别诊断包括各种其他小脑共济失调,但观察到的特定变性模式提示为OPCD。在治疗上,对患者进行了支持性物理治疗和口服甲钴胺补充治疗,旨在减缓病情进展并缓解症状。虽然结果无法治愈,但重点是症状管理和提高生活质量。本病例突出了磁共振成像(MRI)在OPCD早期检测和诊断中的关键作用,特别是在年轻成年人等非典型患者群体中。它提醒医学界注意神经退行性疾病表现的变异性以及对出现进行性神经症状的年轻患者保持警惕的必要性。此外,它强调了在年轻患者出现非典型症状时考虑全面诊断方法的重要性,包括详细的影像学检查,以确保准确诊断和适当管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/3eaf5932eb42/cureus-0016-00000069384-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/9b620ab81229/cureus-0016-00000069384-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/f97082986c15/cureus-0016-00000069384-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/105daa453b75/cureus-0016-00000069384-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/ddf0ce6491a9/cureus-0016-00000069384-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/9136bc699751/cureus-0016-00000069384-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/be7a33899d24/cureus-0016-00000069384-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/3eaf5932eb42/cureus-0016-00000069384-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/9b620ab81229/cureus-0016-00000069384-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/f97082986c15/cureus-0016-00000069384-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/105daa453b75/cureus-0016-00000069384-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/ddf0ce6491a9/cureus-0016-00000069384-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/9136bc699751/cureus-0016-00000069384-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/be7a33899d24/cureus-0016-00000069384-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e3e/11472210/3eaf5932eb42/cureus-0016-00000069384-i07.jpg

相似文献

1
Olivopontocerebellar Degeneration in a Young Adult Female: A Case Report of Early Onset and an Uncommon Course.一名年轻成年女性的橄榄体脑桥小脑变性:早发及罕见病程的病例报告
Cureus. 2024 Sep 14;16(9):e69384. doi: 10.7759/cureus.69384. eCollection 2024 Sep.
2
Myoclonus status revealing COVID 19 infection.肌阵挛状态揭示 COVID-19 感染。
Seizure. 2023 Jan;104:12-14. doi: 10.1016/j.seizure.2022.11.010. Epub 2022 Nov 22.
3
MRI and CT features of cerebellar degeneration.小脑变性的磁共振成像(MRI)和计算机断层扫描(CT)特征
J Formos Med Assoc. 1993 Jun;92(6):494-508.
4
Vesicoureteral Reflux膀胱输尿管反流
5
An autopsied case of progressive supranuclear palsy presenting with cerebellar ataxia and severe cerebellar involvement.尸检发现一例进行性核上性麻痹,表现为小脑性共济失调和严重的小脑受累。
Neuropathology. 2013 Oct;33(5):561-7. doi: 10.1111/neup.12012. Epub 2013 Jan 16.
6
Letter to the Editor: Depression As The First Symptom Of Frontal Lobe Grade 2 Malignant Glioma.给编辑的信:额颞叶 2 级恶性胶质瘤的首发症状为抑郁。
Turk Psikiyatri Derg. 2022 Summer;33(2):143-145. doi: 10.5080/u25957.
7
[An autopsied case of progressive supranuclear palsy, initially diagnosed as spinocerebellar degeneration with severe olivopontocerebellar involvement].[一例进行性核上性麻痹尸检病例,最初被诊断为伴有严重橄榄脑桥小脑受累的脊髓小脑变性]
Rinsho Shinkeigaku. 2011 Oct;51(10):756-60. doi: 10.5692/clinicalneurol.51.756.
8
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?婴儿期起病的进行性小脑萎缩和前角细胞变性——PCH-1的一种迟发型变体?
Eur J Paediatr Neurol. 2008 Mar;12(2):97-101. doi: 10.1016/j.ejpn.2007.06.005. Epub 2007 Jul 30.
9
[Striatonigral degeneration and sporadic olivopontocerebellar atrophy: a consideration of the clinical entity of multiple system atrophy].[纹状体黑质变性与散发性橄榄脑桥小脑萎缩:对多系统萎缩临床实体的思考]
No To Shinkei. 1999 Apr;51(4):305-12.
10
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.正电子发射断层扫描(PET)和磁共振成像(MRI)对36型脊髓小脑共济失调早期及进展性神经变性的检测
Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10.

引用本文的文献

1
An Imitation-Based Treatment for Ataxic Dysarthria: A Retrospective Multiple Single-Case Study.一种基于模仿的共济失调性构音障碍治疗方法:一项回顾性多单病例研究。
Biomedicines. 2025 Jul 8;13(7):1666. doi: 10.3390/biomedicines13071666.

本文引用的文献

1
The genetic nomenclature of recessive cerebellar ataxias.隐性小脑共济失调的遗传命名法。
Mov Disord. 2018 Jul;33(7):1056-1076. doi: 10.1002/mds.27415. Epub 2018 May 14.
2
Cerebellum and neurodegenerative diseases: Beyond conventional magnetic resonance imaging.小脑与神经退行性疾病:超越传统磁共振成像
World J Radiol. 2017 Oct 28;9(10):371-388. doi: 10.4329/wjr.v9.i10.371.
3
Multiple system atrophy: current and future approaches to management.多系统萎缩:当前和未来的管理方法。
Ther Adv Neurol Disord. 2010 Jul;3(4):249-63. doi: 10.1177/1756285610375328.
4
Multiple system atrophy.多系统萎缩
Lancet Neurol. 2004 Feb;3(2):93-103. doi: 10.1016/s1474-4422(03)00662-8.
5
Patterns of neuropsychological performance in multiple system atrophy compared to sporadic and hereditary olivopontocerebellar atrophy.与散发性和遗传性橄榄体脑桥小脑萎缩相比,多系统萎缩的神经心理学表现模式。
Brain Cogn. 2002 Nov;50(2):194-206. doi: 10.1016/s0278-2626(02)00503-1.
6
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy.散发性橄榄体脑桥小脑萎缩向多系统萎缩的演变。
Neurology. 2000 Aug 22;55(4):527-32. doi: 10.1212/wnl.55.4.527.
7
Multiple systems atrophy and nonfamilial olivopontocerebellar atrophy are the same disease.多系统萎缩与非家族性橄榄体脑桥小脑萎缩是同一种疾病。
Ann Neurol. 1995 May;37(5):553-4. doi: 10.1002/ana.410370502.
8
Olivopontocerebellar atrophy. A review of 117 cases.橄榄体脑桥小脑萎缩。117例病例综述。
J Neurol Sci. 1982 Feb;53(2):253-72. doi: 10.1016/0022-510x(82)90011-9.
9
The olivopontocerebellar atrophies: a review.橄榄体脑桥小脑萎缩:综述
Medicine (Baltimore). 1970 May;49(3):227-41. doi: 10.1097/00005792-197005000-00003.
10
Cognitive deficits in olivopontocerebellar atrophy: implications for the cholinergic hypothesis of Alzheimer's dementia.橄榄脑桥小脑萎缩中的认知缺陷:对阿尔茨海默病痴呆胆碱能假说的启示。
Ann Neurol. 1988 Aug;24(2):200-6. doi: 10.1002/ana.410240205.