Wang Chen, Xing Hongyi, Jiang Xiaobing, Zeng Jingsi, Liu Zhijun, Chen Jixiang, Wu Yan
Department of Neurology, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, China.
Department of Neurosurgery, Tongji Medical College, Union Hospital, Huazhong University of Science and Technology, Wuhan, China.
Front Neurol. 2019 Sep 3;10:938. doi: 10.3389/fneur.2019.00938. eCollection 2019.
, 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 . 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 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 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 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 in a -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 infection, at any age, should be tested for inherited deficiency.
是一种通常在世界各地的腐烂有机物中发现的暗色真菌，是真菌感染的罕见原因。脑暗色丝孢霉病是由引起的一种散发性但往往致命的脑部感染。然而，由于报告有限，对其具体的易感因素、临床表现和最佳治疗方式知之甚少。在此，我们报告一名中国患者脑暗色丝孢霉病的临床表现及治疗情况。一名原本健康的年轻男性，7个月前被诊断为由引起的颈部真菌性淋巴结炎，并接受了伊曲康唑治疗，后来出现进行性颅内高压和持续昏迷。颈部淋巴组织培养长出一种黑色酵母样真菌，通过核糖体DNA内转录间隔区（ITS）结构域测序鉴定为。因此，进行了脑活检，病理报告显示有菌丝体和真菌肉芽肿。我们还对该患者的进行了测序，发现他为功能丧失突变的纯合子；他的父母为同一突变的杂合子。这是首例由引起的脑暗色丝孢霉病在一名缺乏的中国患者中的病例报告。他最终因脑疝和严重肺部感染且对治疗反应不佳而死亡。因此，任何年龄的先前健康但患有不明原因侵袭性感染的患者，都应检测是否存在遗传性缺乏。
