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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.

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/11472210/9b620ab81229/cureus-0016-00000069384-i01.jpg

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