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一名患有遗传性CARD9缺陷的儿童中枢神经系统中皮肤外瓶霉和广州管圆线虫的并发感染:病例报告及文献综述

Concurrent infection of Exophiala dermatitidis and Angiostrongylus cantonensis in central nervous system of a child with inherited CARD9 deficiency: A case report and literature review.

作者信息

Ma Na, Zhao Yufei, Tang Mingze, Xia Han, Li Deyuan, Lu Guoyan

机构信息

Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu 610041, China.

The Third Hospital of Mianyang, Sichuan Mental Health Center, Mianyang, China.

出版信息

J Mycol Med. 2024 Mar;34(1):101455. doi: 10.1016/j.mycmed.2023.101455. Epub 2023 Nov 25.

Abstract

Exophiala dermatitidis is a relatively common environmental black yeast with a worldwide distribution that rarely causes fungal infection. Here, we report a case of a 6-year-old girl with central nervous system (CNS) encephalitis caused by E. dermatitidis and Angiostrongylus cantonensis. E. dermatitidis was identified by both cerebrospinal fluid culture and metagenomic next-generation sequencing (mNGS). Angiostrongylus cantonensis infection was confirmed by an enzyme linked immunosorbent assay (ELISA). Whole exome sequencing showed that this previously healthy girl carried a homozygous CARD9 mutation for c.820dupG (p.D274Gfs*61) that underlies invasive fungal and parasite infections. We chose glucocortieoid pulse therapy and anti-infective therapy based on the initial results of laboratory examination and cranial MRI images. With the aggravation of the disease and the evidence of the subsequent etiologic test, the combination of antifungal antiparasitic treatments (voriconazole, fluorocytosine and amphotericin B) were actively used. Unfortunately, the girl finally died due to severe systemic infection. mNGS performs a potential value for diagnosing rare CNS infections, and autosomal recessive CARD9 deficiency should be considered in patient with fatal invasive fungal infections.

摘要

皮炎外瓶霉是一种分布于全球的相对常见的环境黑酵母,很少引起真菌感染。在此,我们报告一例6岁女孩因皮炎外瓶霉和广州管圆线虫感染导致中枢神经系统(CNS)脑炎的病例。通过脑脊液培养和宏基因组下一代测序(mNGS)鉴定出皮炎外瓶霉。通过酶联免疫吸附测定(ELISA)确诊广州管圆线虫感染。全外显子组测序显示,这名此前健康的女孩携带纯合的CARD9突变,即c.820dupG(p.D274Gfs*61),这是侵袭性真菌和寄生虫感染的基础。我们根据实验室检查的初步结果和头颅MRI图像选择了糖皮质激素冲击疗法和抗感染治疗。随着病情加重以及后续病因检查结果的出现,积极采用了抗真菌和抗寄生虫联合治疗(伏立康唑、氟胞嘧啶和两性霉素B)。不幸的是,该女孩最终因严重的全身感染死亡。mNGS在诊断罕见的中枢神经系统感染方面具有潜在价值,对于致命性侵袭性真菌感染患者应考虑常染色体隐性CARD9缺陷。

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