PDF(Pubmed)
Abstract：
UNASSIGNED: Invasive mold diseases of the central nervous (CNS IMD) system are exceedingly rare disorders, characterized by nonspecific clinical symptoms. This results in significant diagnostic challenges, often leading to delayed diagnosis and the risk of misdiagnosis for patients. Metagenomic Next-Generation Sequencing (mNGS) holds significant importance for the diagnosis of infectious diseases, especially in the rapid and accurate identification of rare and difficult-to-culture pathogens. Therefore, this study aims to explore the clinical characteristics of invasive mold disease of CNS IMD in children and assess the effectiveness of mNGS technology in diagnosing CNS IMD.
UNASSIGNED: Three pediatric patients diagnosed with Invasive mold disease brain abscess and treated in the Pediatric Intensive Care Unit (PICU) of the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2023 were selected for this study.
UNASSIGNED: Case 1, a 6-year-old girl, was admitted to the hospital with \"acute liver failure.\" During her hospital stay, she developed fever, irritability, and seizures. CSF mNGS testing resulted in a negative outcome. Multiple brain abscesses were drained, and Aspergillus fumigatus was detected in pus culture and mNGS. The condition gradually improved after treatment with voriconazole combined with caspofungin. Case 2, a 3-year-old girl, was admitted with \"acute B-lymphoblastic leukemia.\" During induction chemotherapy, she developed fever and seizures. Aspergillus fumigatus was detected in the intracranial abscess fluid by mNGS, and the condition gradually improved after treatment with voriconazole combined with caspofungin, followed by \"right-sided brain abscess drainage surgery.\" Case 3, a 7-year-old girl, showed lethargy, fever, and right-sided limb weakness during the pending chemotherapy period for acute B-lymphoblastic leukemia. Rhizomucor miehei and Rhizomucor pusillus was detected in the cerebrospinal fluid by mNGS. The condition gradually improved after treatment with amphotericin B combined with posaconazole. After a six-month follow-up post-discharge, the three patients improved without residual neurological sequelae, and the primary diseases were in complete remission.
UNASSIGNED: The clinical manifestations of CNS IMD lack specificity. Early mNGS can assist in identifying the pathogen, providing a basis for definitive diagnosis. Combined surgical treatment when necessary can help improve prognosis.
UNASSIGNED: Three pediatric patients diagnosed with Invasive mold disease brain abscess and treated in the Pediatric Intensive Care Unit (PICU) of the First Affiliated Hospital of Zhengzhou University from January 2020 to December 2023 were selected for this study.
UNASSIGNED: Case 1, a 6-year-old girl, was admitted to the hospital with \"acute liver failure.\" During her hospital stay, she developed fever, irritability, and seizures. CSF mNGS testing resulted in a negative outcome. Multiple brain abscesses were drained, and Aspergillus fumigatus was detected in pus culture and mNGS. The condition gradually improved after treatment with voriconazole combined with caspofungin. Case 2, a 3-year-old girl, was admitted with \"acute B-lymphoblastic leukemia.\" During induction chemotherapy, she developed fever and seizures. Aspergillus fumigatus was detected in the intracranial abscess fluid by mNGS, and the condition gradually improved after treatment with voriconazole combined with caspofungin, followed by \"right-sided brain abscess drainage surgery.\" Case 3, a 7-year-old girl, showed lethargy, fever, and right-sided limb weakness during the pending chemotherapy period for acute B-lymphoblastic leukemia. Rhizomucor miehei and Rhizomucor pusillus was detected in the cerebrospinal fluid by mNGS. The condition gradually improved after treatment with amphotericin B combined with posaconazole. After a six-month follow-up post-discharge, the three patients improved without residual neurological sequelae, and the primary diseases were in complete remission.
UNASSIGNED: The clinical manifestations of CNS IMD lack specificity. Early mNGS can assist in identifying the pathogen, providing a basis for definitive diagnosis. Combined surgical treatment when necessary can help improve prognosis.
摘要：
■中枢神经（CNSIMD）系统的侵袭性霉菌病是极为罕见的疾病，以非特异性临床症状为特征。这导致了重大的诊断挑战，常导致患者诊断延迟和误诊的风险。宏基因组下一代测序（mNGS）对传染病的诊断具有重要意义。特别是在快速，准确地鉴定稀有和难以培养的病原体。因此,本研究旨在探讨儿童中枢神经系统IMD侵袭性霉菌病的临床特点，并评估mNGS技术在中枢神经系统IMD诊断中的有效性。
选择2020年1月至2023年12月在郑州大学第一附属医院儿科重症监护病房（PICU）诊断为侵袭性霉菌病脑脓肿的3例儿科患者进行研究。
■案例1，一个6岁的女孩，因“急性肝衰竭”入院。“在她住院期间，她发烧了,烦躁，和癫痫发作。CSFmNGS测试导致阴性结果。多发性脑脓肿被引流，在脓液培养和mNGS中检测到烟曲霉。伏立康唑联合卡泊芬净治疗后病情逐渐好转。案例2，一个3岁的女孩，因急性B淋巴细胞白血病入院。“在诱导化疗期间，她出现发烧和癫痫发作。通过mNGS在颅内脓肿液中检测到烟曲霉，伏立康唑联合卡泊芬净治疗后病情逐渐好转，其次是“右侧脑脓肿引流术”。“案例3，一个7岁的女孩，表现出嗜睡，发烧,急性B淋巴细胞白血病化疗期间右侧肢体无力。通过mNGS在脑脊液中检测到了米黑根瘤菌和脓皮根瘤菌。两性霉素B联合泊沙康唑治疗后病情逐渐好转。出院后六个月随访,3例患者病情好转,无残留神经系统后遗症,原发疾病完全缓解。
■CNSIMD的临床表现缺乏特异性。早期的mNGS可以帮助识别病原体，为明确诊断提供依据。必要时联合手术治疗有助于改善预后。
选择2020年1月至2023年12月在郑州大学第一附属医院儿科重症监护病房（PICU）诊断为侵袭性霉菌病脑脓肿的3例儿科患者进行研究。
■案例1，一个6岁的女孩，因“急性肝衰竭”入院。“在她住院期间，她发烧了,烦躁，和癫痫发作。CSFmNGS测试导致阴性结果。多发性脑脓肿被引流，在脓液培养和mNGS中检测到烟曲霉。伏立康唑联合卡泊芬净治疗后病情逐渐好转。案例2，一个3岁的女孩，因急性B淋巴细胞白血病入院。“在诱导化疗期间，她出现发烧和癫痫发作。通过mNGS在颅内脓肿液中检测到烟曲霉，伏立康唑联合卡泊芬净治疗后病情逐渐好转，其次是“右侧脑脓肿引流术”。“案例3，一个7岁的女孩，表现出嗜睡，发烧,急性B淋巴细胞白血病化疗期间右侧肢体无力。通过mNGS在脑脊液中检测到了米黑根瘤菌和脓皮根瘤菌。两性霉素B联合泊沙康唑治疗后病情逐渐好转。出院后六个月随访,3例患者病情好转,无残留神经系统后遗症,原发疾病完全缓解。
■CNSIMD的临床表现缺乏特异性。早期的mNGS可以帮助识别病原体，为明确诊断提供依据。必要时联合手术治疗有助于改善预后。
