Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review
Exophiala dermatitidis, a dematiaceous fungus typically found in decaying organic matter worldwide, is a rare cause of fungal infections. Cerebral phaeohyphomycosis is a sporadic but often fatal infection of the brain caused by E. dermatitidis. However, due to limited reports, little is known about...
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| Format: | Article |
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Frontiers Media S.A.
2019-09-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2019.00938/full |
| _version_ | 1818456733720248320 |
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| author | Chen Wang Hongyi Xing Xiaobing Jiang Jingsi Zeng Zhijun Liu Jixiang Chen Yan Wu |
| author_facet | Chen Wang Hongyi Xing Xiaobing Jiang Jingsi Zeng Zhijun Liu Jixiang Chen Yan Wu |
| author_sort | Chen Wang |
| collection | DOAJ |
| description | Exophiala dermatitidis, a dematiaceous fungus typically found in decaying organic matter worldwide, is a rare cause of fungal infections. Cerebral phaeohyphomycosis is a sporadic but often fatal infection of the brain caused by E. dermatitidis. However, due to limited reports, little is known about its specific predisposing factors, clinical manifestation, and optimal treatment modality. Here, we report a clinical presentation and management of cerebral phaeohyphomycosis in a Chinese patient. An otherwise healthy, young male who was diagnosed with neck fungal lymphadenitis caused by E. dermatitidis 7 months prior and was treated with itraconazole, presented later with progressive intracranial hypertension and persistent coma. Culture of the neck lymphoid tissue produced growth of a black yeast-like fungus, which was identified as E. dermatitidis by sequencing of the ribosomal DNA internal transcribed spacer (ITS) domains. Accordingly, a cerebral biopsy was performed, and the pathological report showed mycelia and fungal granulomas. We also sequenced CARD9 in the patient and found him to be homozygous for loss-of-function mutation; his parents were heterozygous for the same mutation. This is a first case report of cerebral phaeohyphomycosis caused by E. dermatitidis in a CARD9-deficient Chinese patient. He eventually succumbed to brain herniation and severe lung infection with a poor response to therapy. Thus, previously healthy patients with unexplained invasive E. dermatitidis infection, at any age, should be tested for inherited CARD9 deficiency. |
| first_indexed | 2024-12-14T22:31:22Z |
| format | Article |
| id | doaj.art-c38c764c3aef4fcab470e655eabaef3d |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-14T22:31:22Z |
| publishDate | 2019-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-c38c764c3aef4fcab470e655eabaef3d2022-12-21T22:45:15ZengFrontiers Media S.A.Frontiers in Neurology1664-22952019-09-011010.3389/fneur.2019.00938465143Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature ReviewChen Wang0Hongyi Xing1Xiaobing Jiang2Jingsi Zeng3Zhijun Liu4Jixiang Chen5Yan Wu6Department of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Neurosurgery, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Dermatology and Venereology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, ChinaExophiala dermatitidis, a dematiaceous fungus typically found in decaying organic matter worldwide, is a rare cause of fungal infections. Cerebral phaeohyphomycosis is a sporadic but often fatal infection of the brain caused by E. dermatitidis. However, due to limited reports, little is known about its specific predisposing factors, clinical manifestation, and optimal treatment modality. Here, we report a clinical presentation and management of cerebral phaeohyphomycosis in a Chinese patient. An otherwise healthy, young male who was diagnosed with neck fungal lymphadenitis caused by E. dermatitidis 7 months prior and was treated with itraconazole, presented later with progressive intracranial hypertension and persistent coma. Culture of the neck lymphoid tissue produced growth of a black yeast-like fungus, which was identified as E. dermatitidis by sequencing of the ribosomal DNA internal transcribed spacer (ITS) domains. Accordingly, a cerebral biopsy was performed, and the pathological report showed mycelia and fungal granulomas. We also sequenced CARD9 in the patient and found him to be homozygous for loss-of-function mutation; his parents were heterozygous for the same mutation. This is a first case report of cerebral phaeohyphomycosis caused by E. dermatitidis in a CARD9-deficient Chinese patient. He eventually succumbed to brain herniation and severe lung infection with a poor response to therapy. Thus, previously healthy patients with unexplained invasive E. dermatitidis infection, at any age, should be tested for inherited CARD9 deficiency.https://www.frontiersin.org/article/10.3389/fneur.2019.00938/fullCARD9cerebral phaeohyphomycosisExophiala dermatitidisfungal infectionloss-of-function mutation |
| spellingShingle | Chen Wang Hongyi Xing Xiaobing Jiang Jingsi Zeng Zhijun Liu Jixiang Chen Yan Wu Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review Frontiers in Neurology CARD9 cerebral phaeohyphomycosis Exophiala dermatitidis fungal infection loss-of-function mutation |
| title | Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review |
| title_full | Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review |
| title_fullStr | Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review |
| title_full_unstemmed | Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review |
| title_short | Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review |
| title_sort | cerebral phaeohyphomycosis caused by exophiala dermatitidis in a chinese card9 deficient patient a case report and literature review |
| topic | CARD9 cerebral phaeohyphomycosis Exophiala dermatitidis fungal infection loss-of-function mutation |
| url | https://www.frontiersin.org/article/10.3389/fneur.2019.00938/full |
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