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急性间歇性卟啉病:急性播散性脑脊髓炎的罕见病因。

Acute Intermittent Porphyria: A Rare Cause of Acute Disseminated Encephalomyelitis.

作者信息

Sheikh Abdul Ahad E, Sheikh Abu Baker, Sagheer Shazib, Tariq Usman, Bukhari Marvi M, Fatima Zainab, Afzal Rao M

机构信息

Student, Shifa College Of Medicine, Islamabad, PAK.

Internal Medicine, University of New Mexico, Albuquerque, USA.

出版信息

Cureus. 2018 Jul 17;10(7):e2989. doi: 10.7759/cureus.2989.

Abstract

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) with no distinct etiology but implications include infections and commonly administered vaccinations. In this case report, we present the case of ADEM in a young female who was subsequently diagnosed with acute intermittent porphyria (AIP) that was the instigator of the initial CNS assault. Our case highlights the peculiar presentation of ADEM which can present as a diagnostic challenge and brings forth AIP as a new and previously unknown affiliate of this rare CNS disease. We also discuss the pathophysiology, diagnostic criteria, and subsequent treatment options for this rare clinical entity.

摘要

急性播散性脑脊髓炎(ADEM)是一种中枢神经系统(CNS)脱髓鞘疾病,病因不明,但可能与感染及常用疫苗接种有关。在本病例报告中,我们呈现了一名年轻女性患ADEM的病例,该患者随后被诊断为急性间歇性卟啉病(AIP),而AIP是最初中枢神经系统攻击的诱因。我们的病例突出了ADEM的特殊表现,这可能带来诊断挑战,并揭示AIP是这种罕见中枢神经系统疾病新的、此前未知的关联因素。我们还讨论了这种罕见临床实体的病理生理学、诊断标准及后续治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/09bc/6141216/ae9e873379c4/cureus-0010-00000002989-i01.jpg

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