一名女性阿尔茨海默病患者的多模式诊断方法:病例报告

Brain-X Pub Date : 2024-07-14 DOI:10.1002/brx2.69
Huijie Yu, Xudong Ma, Meijun Pang, Xuehai Fan, Yan Xing, Kuo Zhang, Ningnannan Zhang, Cai Li, Kai Yu, Xiuyun Liu
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Her speech, numeracy, and social networking ability also declined. She went to a local hospital 2 years ago and was diagnosed with iNPH. She was admitted to our hospital as a result of her symptoms progressively getting worse over the past few months and her gait deteriorating. The doctors suspected her as an iNPH or AD patient, thus arranging magnetic resonance imaging (MRI), cerebrospinal fluid tap test (CSF TT), Infusion study, phase-contrast magnetic resonance imaging (PC-MRI) on the admission day.</p><p>As shown in Figure 1, the MRI showed significant ventricular dilation, with an Evans index (EI) of 0.38. However, her Callosal Angle was 90.6°, and presented a negative DESH sign (disproportionately enlarged subarachnoid space hydrocephalus). Obvious atrophies were found in temporal lobe and parahippocampal gyrus. The PC-MRI shows enhanced cerebrospinal fluid flow signals in the ventricular system, with thinning of cerebral white matter. 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It offers several advantages and alternatives compared to traditional CSF TT, including short-testing duration, calculation of resistance to CSF outflow (Rout) and elasticity.<span><sup>5</sup></span> For this patient, the infusion study showed an opening pressure of 9 mmHg, and resistance of CSF was 3.53 mmHg × min/mL, which indicates smooth CSF circulation (Supporting Information S1).</p><p>The patient declared slight alleviation after the CSF TT, however, the clinical assessment by doctors didn't show obvious improvement. Thus, we recommended her to do a positron emission tomography/computed tomography (PET/CT) imaging test. Figure 1D showed an accumulation of Amyloid beta (Aβ) protein, a well-known indicator of AD disease, which has facilitated doctors to accurately pre-diagnose cases of AD. 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引用次数: 0

摘要

阿尔茨海默病(AD)是一种神经退行性疾病,也是导致痴呆症的最常见原因,约占痴呆症病例的60%-70%。1 正常压力脑积水(NPH)是导致痴呆症的少数可逆原因之一,约占所有痴呆症的6%,其中特发性正常压力脑积水(iNPH)主要发生在老年人身上。3 本文报告了一例最初被诊断为特发性正常压力脑积水(iNPH),但通过多模态诊断方法最终发现其为 AD 患者的病例。她的语言、计算和社交能力也有所下降。2 年前,她到当地医院就诊,被诊断为 iNPH。过去几个月来,她的症状逐渐加重,步态也在恶化,因此被送入我院。医生怀疑她是 iNPH 或 AD 患者,因此在入院当天为她安排了磁共振成像(MRI)、脑脊液穿刺检查(CSF TT)、输液检查和相位对比磁共振成像(PC-MRI)。然而,她的胼胝体角度为90.6°,呈阴性DESH征(蛛网膜下腔不成比例扩大的脑积水)。颞叶和海马旁回出现明显萎缩。PC-MRI 显示脑室系统的脑脊液流信号增强,脑白质变薄。CSF TT 是诊断 iNPH 的临床工具,被认为是预测疑似 iNPH 患者分流效果的重要工具。4 CSF TT 期间,通过腰椎穿刺放出 30-50 mL CSF,在 CSF TT 前和 CSF TT 后 24/48/72 h 评估患者的步态平衡能力、膀胱功能和认知功能。输液研究是评估 iNPH 患者是否有必要进行分流的明确方法。与传统的 CSF TT 相比,它有许多优点和替代方法,包括测试时间短、可计算 CSF 流出阻力(Rout)和弹性。5 该患者的输液检查显示开放压为 9 mmHg,CSF 阻力为 3.53 mmHg × min/mL,表明 CSF 循环顺畅(佐证资料 S1)。因此,我们建议她进行正电子发射断层扫描/计算机断层扫描(PET/CT)成像检查。图1D显示淀粉样β(Aβ)蛋白积聚,而Aβ蛋白是众所周知的AD疾病指标,这为医生准确预诊AD病例提供了便利。最后,通过多模态诊断方法,我们确诊她患有注意力缺失症。注意力缺失症和 iNPH 都会导致痴呆,表现出明显的相似性和症状,如认知能力下降、神经变性、身体退化和睡眠障碍。但症状出现的顺序不同。在 iNPH 中,身体机能最先衰退,尤其是行走和排尿障碍。相比之下,认知能力下降往往是注意力缺失症的早期特征。AD 是一种不可逆的神经退行性疾病,而 iNPH 引起的症状可以通过脑室腹腔分流术逆转。因此,临床医生必须区分这两种疾病,以避免延误诊断和浪费医疗资源。多模态诊断方法可让医生通过考虑多个指标来识别疾病,最大限度地降低误诊风险。通过跨学科合作获得的更广阔视角可能会产生新的见解,有助于更早地做出诊断。这是一个以认知障碍起病的病例,具有 iNPH 的典型指标,包括认知障碍、步态和 EI 升高。患者在当地医院被误诊为 iNPH,导致疾病治疗延误,浪费了医疗资源。在我院,我们通过核磁共振、PC-MRI、输液检查、CSF TT、PET/CT等多模态诊断方法,为患者做出了个体化的精准诊断:构思;调查;指导;撰写-原稿。马旭东:数据整理;形式分析;调查;撰写-原稿;撰写-审稿&amp;编辑。庞美君正式分析;写作 - 审阅和编辑。范学海:数据整理;写作--审阅和编辑。
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A female patient with Alzheimer's disease via multimodality diagnostic approaches: A case report

Alzheimer's disease (AD) is a neurodegenerative disease and the most common cause of dementia, accounting for around 60%–70% dementia cases.1 Normal pressure hydrocephalus (NPH) is one of the few reversible causes of dementia, accounting for approximately 6% of all dementias, among which, idiopathic normal pressure hydrocephalus (iNPH) happens mostly in elder people.2 Due to the similarity of their symptoms, it is important to differentiate between iNPH and AD.3 In this paper, we reported a case who were originally diagnosed with iNPH and were finally found to be an AD patient via multimodality diagnostic approaches.

A 57-year-old woman, who got a short-term memory decline 2 years ago, was admitted to Tianjin Medical University General Hospital (Tianjin, China) in October 2023. Her speech, numeracy, and social networking ability also declined. She went to a local hospital 2 years ago and was diagnosed with iNPH. She was admitted to our hospital as a result of her symptoms progressively getting worse over the past few months and her gait deteriorating. The doctors suspected her as an iNPH or AD patient, thus arranging magnetic resonance imaging (MRI), cerebrospinal fluid tap test (CSF TT), Infusion study, phase-contrast magnetic resonance imaging (PC-MRI) on the admission day.

As shown in Figure 1, the MRI showed significant ventricular dilation, with an Evans index (EI) of 0.38. However, her Callosal Angle was 90.6°, and presented a negative DESH sign (disproportionately enlarged subarachnoid space hydrocephalus). Obvious atrophies were found in temporal lobe and parahippocampal gyrus. The PC-MRI shows enhanced cerebrospinal fluid flow signals in the ventricular system, with thinning of cerebral white matter. The imaging manifestations didn't quite match the main features of iNPH, she looks more like a dementia or an AD patient.

The CSF TT is a clinical tool for the diagnosis of iNPH, and has been regarded as an important prediction tool of shunt effectiveness in patients with suspected iNPH.4 During CSF TT, 30–50 mL CSF was released through a lumbar puncture, and patient's gait balance ability, bladder function, cognitive function was evaluated before and 24/48/72 h after CSF TT. No significant improvement was found after the CSF TT test.

Infusion study has been a well-defined method to assess the necessity of proceeding into shunt for iNPH patients. It offers several advantages and alternatives compared to traditional CSF TT, including short-testing duration, calculation of resistance to CSF outflow (Rout) and elasticity.5 For this patient, the infusion study showed an opening pressure of 9 mmHg, and resistance of CSF was 3.53 mmHg × min/mL, which indicates smooth CSF circulation (Supporting Information S1).

The patient declared slight alleviation after the CSF TT, however, the clinical assessment by doctors didn't show obvious improvement. Thus, we recommended her to do a positron emission tomography/computed tomography (PET/CT) imaging test. Figure 1D showed an accumulation of Amyloid beta (Aβ) protein, a well-known indicator of AD disease, which has facilitated doctors to accurately pre-diagnose cases of AD. Finally, via multimodality diagnostic approaches, we confirmed that she has AD.

Both AD and iNPH can cause dementia, exhibiting significant similarities and symptoms, such as cognitive decline, neurodegeneration, physical deterioration, and sleep disorders. But symptoms appear at different order. In iNPH, physical impairments, especially in walking and urinary continence, are the first to decline. By contrast, cognitive decline tends to be an early feature in AD. While AD is an irreversible neurodegenerative disease, symptoms caused by iNPH can be reversed by ventriculoperitoneal shunt. Therefore, it is important for clinicians to distinguish between them to avoid delays in diagnosis and waste of healthcare resources. The multimodality diagnostic approaches allows doctors identify diseases by considering multiple indicators, minimize the risk of misdiagnosis. A wider perspective gained through interdisciplinary collaboration may yield novel insights and facilitate earlier diagnosis.

This is one case started with cognitive impairment and has the classic indicators of iNPH, including impaired cognition, gait, and elevated EI. The patient was incorrectly diagnosed with iNPH at the local hospital, resulting in a delay in the disease treatment and a waste of healthcare resources. At our hospital, based on multimodality diagnostic approaches, including MRI, PC-MRI, Infusion study, CSF TT and PET/CT, we make individually and precisely diagnosis for the patient.

Huijie Yu: Conceptualization; investigation; supervision; writing – original draft. Xudong Ma: Data curation; formal analysis; investigation; writing – original draft; writing – review & editing. Meijun Pang: Formal analysis; writing – review & editing. Xuehai Fan: Data curation; writing – review & editing. Yan Xing: Investigation; writing – review & editing. Kuo Zhang: Formal analysis; writing – review & editing. Ningnannan Zhang: Data curation; investigation; writing – review & editing. Cai Li: Data curation; writing – review & editing. Kai Yu: Conceptualization; investigation; writing – review & editing. Xiuyun Liu: Investigation; supervision; writing – review & editing.

The authors declare no conflicts of interest.

The study was approved by Ethics Committee of Tianjin Medical University General Hospital (IRB2024-YX-171-01). The patient signed the consent form and agreed to participate in this study.

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