家族性感冒自身炎症综合征与多发性硬化

Q4 Immunology and Microbiology
Syed Basharat Ali, Debajyoti Chaudhuri, Deborah Field, Pravin Hissaria
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引用次数: 1

摘要

Cryopyrin相关周期性综合征(CAPS)是一种自身炎症性疾病,其症状范围从较轻的家族性感冒自身炎症综合征(FCAS)表型到更严重的Muckle-Wells综合征。尽管头痛是最常见的神经系统症状,但多发性硬化症(MS)等神经炎症性疾病仅在更严重的表型中报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Familial cold autoinflammatory syndrome and multiple sclerosis

Familial cold autoinflammatory syndrome and multiple sclerosis

Background

Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disorder with a spectrum ranging from the milder familial cold auto-inflammatory syndrome (FCAS) phenotype to the more severe Muckle–Wells Syndrome. Although headaches are the most common neurological symptoms, neuroinflammatory diseases such as multiple sclerosis (MS) have only been reported in the more severe phenotypes.

Case Presentation

We describe a 43-year-old male diagnosed with relapse-remitting MS who developed cold-induced arthralgias and urticaria. He initially presented with facial numbness and arthralgias in his late teenage years, and brain magnetic resonance imaging (MRI) demonstrated multiple lesions with periventricular white matter extension. Oligoclonal bands were detected in the cerebrospinal fluid (CSF). Symptoms gradually improved, and a decade later he presented with numbness at upper limbs and tongue. Brain and spine MRI showed new lesions, but CSF was unremarkable. He was started on interferon β-1a with symptomatic improvement until another flare around 13 years later. Treatment was changed to dimethyl fumarate. During this hospitalization, urticaria was problematic and particularly associated with cold temperatures. This raised suspicion for possible CAPS and subsequently confirmed with an A439V mutation in the NLRP3 gene, consistent with FCAS. Anakinra was started but was not tolerated because of localized reactions despite desensitization. His serum amyloid A was mildly elevated at 9 mg/L (reference range 0–6). He remains stable from a neurological perspective, including imaging, and continues dimethyl fumarate.

Conclusions

To date, FCAS and possible association with MS has not been described. The case raises challenges in the diagnosis of concurrent disease processes. It also highlights that neurological sequelae should be considered in all spectrums of CAPS, and distinctions with MS should be made where possible.

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来源期刊
Clinical and Experimental Neuroimmunology
Clinical and Experimental Neuroimmunology Immunology and Microbiology-Immunology and Microbiology (miscellaneous)
CiteScore
1.60
自引率
0.00%
发文量
52
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