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鉴别肿胀型多发性硬化(TMS)与其他脑部病变的诊断挑战:一例病例报告及关于多发性硬化罕见亚型的文献综述

The diagnostic challenge of differentiating tumefactive multiple sclerosis (TMS) from other brain lesions: a case report and literature review on a rare subtype of MS.

作者信息

Gill Anosh, Eltawansy Sherif, Karamat Riyan Imtiaz, Nadeem Zain Ali, Esposito Sarah, Karamat Shayan Imtiaz, Aamir Minahil, Anwaar Adeel, Akilimali Aymar

机构信息

Liaquat University of Medical and Health Sciences, Jamshoro, Sindh, Pakistan.

Department of Internal Medicine, Jersey Shore University Medical Center, Neptune, New Jersey, USA.

出版信息

Ann Med Surg (Lond). 2024 Oct 24;86(12):7418-7422. doi: 10.1097/MS9.0000000000002687. eCollection 2024 Dec.

Abstract

INTRODUCTION AND IMPORTANCE

This case report is a clinical diagnosis walk through of a rare subtype of multiple sclerosis (MS). It gives an overview of how tumefactive multiple sclerosis (TMS) is systematically narrowed down as the definitive diagnosis.

CASE PRESENTATION

This 29-year-old male patient presented to the emergency department. He collapsed after experiencing pain over his right frontotemporal region followed by a seizure witnessed by his family. Magnetic Resonance Imaging of the brain displayed diffuse enlargement and abnormal T2 weighted and FLAIR hyperintense signals in the diagnostic impressions described by the radiologist of the right temporoparietal region.

CLINICAL DISCUSSION

Liquefactive multiple sclerosis, also known as tumefactive multiple sclerosis or Marburg-type multiple sclerosis, is a rare subtype of the neurological disorder that can be difficult to diagnose. Unlike the traditional form of MS, TMS can present as a brain tumor and must be diagnosed with a biopsy rather than via MRI and clinical findings alone. Patients can typically present with headache, cognitive abnormalities, mental confusion, aphasia, apraxia, seizures, and weakness. Here, the authors discuss the presentation, disease diagnosis process and patient management.

CONCLUSION

The patient was stabilized and discharged with a referral to the neurosurgery and neurology departments for outpatient consultation for future clinical management and treatment of their condition.

摘要

引言与重要性

本病例报告是对一种罕见的多发性硬化症(MS)亚型的临床诊断过程。它概述了如何逐步明确诊断为肿胀型多发性硬化症(TMS)。

病例介绍

这位29岁的男性患者前往急诊科就诊。他在右侧额颞部疼痛后晕倒,随后其家人目睹了一次癫痫发作。脑部磁共振成像显示,放射科医生在诊断印象中描述右侧颞顶叶区域有弥漫性肿大以及T2加权像和液体衰减反转恢复序列(FLAIR)高信号异常。

临床讨论

液化性多发性硬化症,也称为肿胀型多发性硬化症或马尔堡型多发性硬化症,是一种难以诊断的罕见神经系统疾病亚型。与传统形式的MS不同,TMS可表现为脑肿瘤,必须通过活检而非仅依靠MRI和临床发现来诊断。患者通常可能出现头痛、认知异常、精神错乱、失语、失用症、癫痫发作和虚弱等症状。在此,作者讨论了临床表现、疾病诊断过程及患者管理。

结论

患者病情稳定后出院,并被转诊至神经外科和神经内科进行门诊咨询,以便对其病情进行未来的临床管理和治疗

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c93/11623848/a4ff553ad506/ms9-86-7418-g001.jpg

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