成人噬血细胞淋巴组织细胞增生症的中枢神经系统病变临床分析

目的总结成人噬血细胞淋巴组织细胞增生症(HLH)患者中枢神经系统病变的临床表现、实验室检查及头颅影像学特点。方法回顾分析2例出现中枢神经系统症状的成人HLH患者的临床表现、脑脊液检查结果、中枢神经系统影像学特点及治疗、转归。结果 1无论是原发性还是继发性成人HLH患者,均可能出现中枢神经系统受累;2HLH的神经系统临床表现多样,可以表现为癫痫发作、肢体瘫痪、意识障碍等;3脑脊液检查可见蛋白增高;4头颅影像学可以出现广泛脑白质病变或基底节区异常信号。结论成人HLH患者可以出现中枢神经系统受累,其临床表现、脑脊液检查、头颅影像学改变呈现多样性。     

小儿噬血细胞性淋巴组织细胞增生症研究进展

噬血细胞性淋巴组织细胞增生症（ＨＬＨ）代表一组病原不同的疾病,在日本和亚洲国家的发病率较高,其中包括家族性噬血细胞性淋巴组织增生症（ＦＨＬ）和感染（病毒）相关性或恶性相关性噬血细胞综合征（ＩＡＨＳ／ＭＡＨＳ）。临床主要表现为发热,肝脾显著肿大和血细胞减少以及脂类代谢和肝功异常,骨髓,脾,肝,淋巴结内可见噬血细胞。免疫学紊乱表现为Ｔ细胞功能缺陷,高细胞因子血症和ＮＫ细胞活性减低,本病的治疗应以皮质激     

妊娠相关噬血细胞性淋巴组织细胞增生症临床诊疗分析

目的：观察妊娠相关噬血细胞性淋巴组织细胞增生症（HLH）的临床特点,探索有效的治疗手段。方法对妊娠相关 HLH 患者的临床表现、实验室检查及疗效、预后进行综合分析。结果8例妊娠相关 HLH 患者均为初次妊娠,2例患者发生于妊娠早期,6例患者发生于围产期;发热（100％）、脾大（75.0％）、消化系统症状（62.5％）是妊娠相关HLH 的主要临床表现;所有患者均有 sCD25的显著升高和 NK 细胞活性的下降,肝功能损害、高甘油三酯血症在妊娠相关 HLH 患者中的发生率更为突出;8例患者有2例患者病情进展迅速,于1月内死亡,6例获得长期生存并仍在随访中。结论妊娠期及产褥期存在异常的免疫调节可能是继发 HLH 的高危因素。及时正确的诊断和恰当的治疗有望改善预后。     

噬血细胞性淋巴组织细胞增生症患儿的护理

噬血细胞性淋巴组织细胞增生症(HLH),临床特征为高热、肝脾肿大、全血细胞减少和凝血障碍,组织学特征为组织细胞/巨噬细胞的过度增生与活化[1]。遗传因素、感染、肿瘤、自身免疫性疾病、药物等多种因素均可引起HLH。2005年1月~2007年6月我科收治30例(HLH)患儿,现将临床观察及护     

噬血细胞性淋巴组织细胞增生症40例回顾性分析

噬血细胞性淋巴组织细胞增生症(HLH)又称噬血细胞综合征(HPS)或噬血细胞性网状细胞增生症(HRS),是一类少见疾病,确切的发病率尚无准确统计,该病本质上属于良性疾病,但由于其病因多样,临床表现和病理改变与恶性组织细胞病(MH)相似,很多基层同道对HLH缺乏了解,错失治疗时机和最佳     

噬血细胞淋巴组织细胞增生症的研究进展

噬血细胞淋巴组织细胞增生症（hemophagocytic lymphohistiocytosis，HLH），或称噬血细胞综合征（hemophagocytic syndrome），是一种单核巨噬系统过度反应性疾病，其临床特征为发热、肝脾和（或）淋巴结肿大、全血细胞减少、肝功能异常和凝血障碍，组织学特征为组织细胞或巨噬细胞的过度增生与活化。近年来的研究深化了对该病的发病机制及治疗的认识，现综述如下。     

原发与再激活EB病毒感染相关噬血细胞性淋巴组织细胞增生症的比较分析

目的:比较原发性EB病毒(EBV)感染及EBV再激活相关噬血细胞性淋巴组织细胞增生症(HLH)患儿的临床特征,探讨不同EBV感染状态对HLH临床指标及预后的影响。方法:收集河南省儿童医院2016年6月至2021年6月收治的51例EBV相关HLH患儿的临床资料,根据血浆EBV抗体谱检测结果,将患者分为EBV原发性感染HLH组(18例)和EBV再激活HLH组(33例)。分析比较两组的临床特征、实验室指标及预后。结果:两组患者在年龄、性别、肝肿大、脾肿大、淋巴结肿大、外周血中性粒细胞数、血红蛋白含量、血小板数、血浆EBV-DNA载量、乳酸脱氢酶、谷丙转氨酶、谷草转氨酶、白蛋白、纤维蛋白原、甘油三酯、铁蛋白、骨髓噬血现象、NK细胞活性、sCD25等方面均无显著差异(P> 0.05),EBV再激活HLH组中枢神经系统受累及CD4/CD8明显高于原发EBV感染HLH组(P <0.05),而总胆红素明显低于原发EBV感染HLH组(P <0.05);参照HLH-2004方案治疗后,EBV再激活HLH组患者的缓解率、5年OS率、5年EFS率均明显低于EBV原发感染HLH组(P <...     

儿童噬血细胞性淋巴组织细胞增生症发病机制和诊治研究进展

噬血细胞性淋巴组织细胞增生症（HLH）,又称为噬血细胞综合征（HPS）,在儿童时期多见,临床起病急、进展迅猛,病死率高.HLH病因复杂多样,但细胞毒T淋巴细胞和NK细胞毒效应低下、细胞因子风暴和多器官高炎症反应及组织器官免疫损伤为显著病理生理特征和共同的发病环节.近年来国际上在HLH的遗传缺陷、诊断和治疗方面取得较大进展.本文结合我们的临床诊治经验,重点就儿童HLH的病因、分类、流行病学、发病机制、诊断标准和诊治研究进展做一综述.     

家族性噬血细胞性淋巴组织细胞增生症1例并文献复习

目的加强对家族性噬血细胞性淋巴组织细胞增生症（familially hemophagocytic lymphohistiocytosis,FHL）的认识。方法报道确诊为FHL的新病例1例,结合国内外报道的FHL的病例,对该病的临床特点进行汇总分析。结果FHL2常与PRF1基因突变相关,约20%~40%的患者存在穿孔素基因突变。结论对于有阳性家族史,基因诊断明确,应尽早行化疗或者造血干细胞移植。若无家族史,未发现与继发性HLH相关的原发病因,可考虑行基因筛查以明确是否存在FHL的可能。     

噬血细胞现象在诊断噬血细胞性淋巴组织细胞增多症中意义的探讨

本研究探讨噬血细胞现象在诊断噬血细胞性淋巴组织细胞增多症（hemophagocytic lymphohistiocytosis,HLH）中的意义。收集2005年6月至2008年10月继发性HLH疑似病例61例,根据HLH-2004诊断标准分为确诊组及排除组,比较各组骨髓、脾或淋巴结活检中噬血细胞现象的发生率。结果表明,61例疑似患者中有43例确诊为继发性HLH,18例排除HLH;确诊组中有33例发生噬血细胞现象,排除HLH组中有4例出现噬血细胞现象;噬血细胞现象在诊断HLH时的敏感性为76．7％,特异性为77．8％。结论：噬血细胞现象在诊断大部分继发性HLH的中具有重要的意义,但没有噬血细胞现象并不能排除HLH的诊断。     

高血糖致中枢神经系统影像学改变2例分析及文献复习

目的探讨高血糖致脑基底节区影像学改变的临床表现、疗效及其病理生理机制。方法选择2例典型患者进行临床表现、治疗经过及影像学改变的回顾性分析,并学习相关文献。结果 2例糖尿病患者,1例为非酮症高血糖,1例为酮症高血糖,临床表现不同,1例表现为偏侧舞蹈症,1例表现为肢体抽搐、偏侧肢体运动障碍。影像学改变有特征性,早期CT表现为对侧纹状体高密度影,MRI表现为病灶区T1高信号,T2等信号,边界清晰,无水肿征象。结论高血糖致中枢神经系统影像学改变最常见的临床表现为偏侧舞蹈症,发病部位以纹状体为主,CT早期表现为高密度影,易与脑出血相混淆,MRI异常信号有助于早期诊断,降低误诊率。     

降钙素原与超敏C反应蛋白联合检测在儿童中枢神经系统感染性疾病中的临床价值

目的探讨降钙素原(PCT)与超敏C反应蛋白(hs-CRP)联合检测对儿童中枢神经系统感染性疾病的临床意义。方法检测43例化脓性脑膜炎、43例病毒性脑膜炎患儿及43例健康儿童血清PCT及hs-CRP水平,并进行对比分析。结果病毒性脑膜炎组治疗前、治疗后PCT及hs-CRP与健康对照组比较差异无统计学意义(P>0.05),且治疗前后未见明显变化(P>0.05);化脓性脑膜炎组治疗前PCT、hs-CRP水平均明显高于病毒性脑膜炎组及健康对照组(P<0.05),治疗后均明显低于治疗前(P<0.05),治疗后PCT、hs-CRP与病毒性脑膜炎组及健康对照组比较差异有统计学意义(P>0.05)。结论 PCT与hs-CRP联合检测对于化脓性脑膜炎与病毒性脑膜炎的鉴别诊断,以及化脓性脑膜炎治疗效果的判断和预后的评估均具有重要临床意义。     

A patient with severe fever with thrombocytopenia syndrome and hemophagocytic lymphohistiocytosis-associated involvement of the central nervous system

Severe fever with thrombocytopenia syndrome (SFTS), a severe infectious disease caused by novel bunyavirus, SFTS virus (SFTSV), is endemic to China, Korea, and Japan. Most SFTS patients show abnormalities in consciousness. Pathological findings in the central nervous system (CNS) of SFTS patients are not reported. A 53-year-old Japanese man was admitted to Uwajima City Hospital with an 8-day history of fever and diarrhea. Laboratory tests revealed leukopenia, thrombocytopenia, and liver enzyme elevation. He was diagnosed as having severe fever with thrombocytopenia syndrome (SFTS) following detection of the SFTSV genome in his blood. Bone marrow aspiration revealed hemophagocytic lymphohistiocytosis. He suffered progressive CNS disturbance and died on day 13 from onset of first symptoms. The SFTSV genome load in blood and levels of certain cytokines increased over the disease course. Necrotizing lymphadenitis with systemic lymphoid tissues positive for nucleocapsid protein (NP) of SFTSV was revealed by immunohistochemical (IHC) analysis. SFTSV-NP-positive immunoblasts were detected in all organs examined, including the CNS, and in the vascular lumina of each organ. Parenchymal cells of all organs examined were negative for SFTSV-NP on IHC analysis. Microscopic examination of the pons showed focal neuronal cell degeneration with hemosiderin-laden macrophages around extended microvessels with perivascular inflammatory cell infiltration and intravascular fibrin deposition. Autopsy confirmed this patient with SFTS was positive for systemic hemophagocytic lymphohistiocytosis including in the CNS. This patient's neurological abnormalities may have been caused by both functional and organic abnormalities. These novel findings provide important insights into the pathophysiology of SFTS.     

Central nervous system superficial siderosis, headache, and epilepsy

Almost 95 cases of superficial siderosis of the central nervous system have been reported in the literature. These patients showed a clinical syndrome characterized by ataxia, deafness, pyramidal system involvement, and mental deterioration with xanthochromic cerebrospinal fluid and neuroradiological findings of hemosiderin deposits. About 30% of the patients had headache as an accompanying symptom. In the present case report, we describe a 33-year-old man with the typical clinical features of superficial siderosis, who complained, since aged 8, of a severe recurrent frontal headache often associated with loss of consciousness occurring after at least 2 hours of pain. The MRI and CSF findings were consistent with subarachnoid bleeding. In our patient, headache due to meningeal irritation by subarachnoid blood induced seizures as a probable reflex of extreme pain. Carbamazepine and nimodipine prophylaxis dramatically reduced the frequency of headaches and seizures.     

儿童与成人中枢神经系统感染的脑脊液病原菌分布与耐药性差异分析

摘要:目的分析南京地区 脑脊液培养阳性标本病原菌分布及耐药性,为临床合理用药和预防医院感染提供参考依据。方法 回顾性收集2020年1月至2022年12月南京医科大学附属儿童医院及附属脑科医院送检的脑脊液样本,对分离的病原菌 分布及耐药性进行分析。结果成人组脑 脊液标本阳性率(12.8% ,346/2 703)显著高于儿童组(7.2% ,265/3 680),两者主要 病原菌分布存在显著差异。分离的革兰阳性菌中,除凝固酶阴性葡萄球菌外,几童组以肺炎链球菌为主,成人组以金黄色葡 萄球菌为主;分离的革兰阴性菌中,儿童组以大肠埃希菌为主,成人组以鲍曼不动杆菌为主。在耐药性方面,两组分离的凝固 酶阴性葡萄球菌对青霉素、红霉素耐药率均较高,肺炎链球菌对红霉素、 克林霉素耐药率较高,两组均未检出利奈唑胺、万古 霉素耐药菌株。儿童组检出的主要病原菌对氨基糖苷类和喹诺酮类抗生素耐药率较低,而成人组检出的主要病原菌对此两 类抗生素耐药率较高,两者具有显著差异。两组检出的鲍曼不动杆菌对碳青霉烯类抗生素的耐药率较高,均未检出对替加环 素耐药的肺炎克雷伯茵菌株。结论南京地区儿童 与成人在病原菌分布和耐药率存在显著差异,医院感染管理部门应引起 重视。病原菌的鉴定及药敏结果为临床合理治疗和预防医院感染提供了依据。     

中枢神经系统淋巴瘤研究进展

中枢神经系统淋巴瘤(CNSL)分为原发性和继发性两大类,是一组发病率较低的,起源于和侵及中枢神经系统的结外非霍奇金淋巴瘤。CNSL进展快、死亡率高、治疗效果较差,有关的基础和临床研究一直是血液肿瘤学的热点。原发性中枢神经系统淋巴瘤(PCNSL)治疗最大的进展是以大剂量甲氨蝶呤(MTX)为基础的化疗方案,并成为PCNSL标准的治疗措施,较单用放疗,患者的生存率得以显著地提高。对于继发性中枢神经系统淋巴瘤(SCNSL),新的预后因素不断地被发现和证实,以及国际预后指数(IPI)的运用,使推断出SCNSL的高发人群并给予针对性的预防治疗成为可能。     

伴有中枢神经系统受累的CMTX1的研究进展

腓骨肌萎缩症(CMT)是一组影响周围神经系统运动和感觉神经的遗传性疾病.X连锁腓骨肌萎缩症(CMTX1)是由位于染色体q13.1上编码Cx32的GJB1基因突变引起的,主要表现为进行性肌肉无力和萎缩.但近期研究发现,CMTX1可引起中枢神经系受累和可逆性脑白质损害.本文对CMTX1的中枢神经系统表现、可能的发病机制、辅...     

Heart rate variability monitoring in the detection of central nervous system complications in children with enterovirus infection

PURPOSE: Previous studies suggest the possibility of autonomic dysfunction in patients with complicated hand, foot, and mouth disease (HFMD) and herpangina. Heart rate variability (HRV), an index for autonomic nervous system, may be useful to detect disease progression. MATERIALS AND METHODS: From 2001 to 2002, 66 patients (1-9 years old) were enrolled prospectively in either a control (20 patients) or disease (46 patients with HFMD or herpangina) group. The disease group was subdivided into stage I (fever only), stage II (with complications of encephalomyelitis), and stage III (with complications of encephalomyelitis as well as tachycardia, hyperglycemia, tachypnea, and hypertension or hypotension) groups. Data from electrocardiograms were transformed for HRV. RESULTS: The HRV parameters generally decreased and the low frequency (LF)/high frequency ratio (HF) increased in the disease groups. Patients in disease group stage II had significantly lower parameters of HRV (triangular index, total power, LF power, and HF power) and higher LF/HF ratio than those in disease group stage I. With this trend, patients with stage III disease had extremely low HRV parameters. The inferred criteria of HRV (standard deviation of normal-to-normal interval <17 milliseconds and HF power <24 milliseconds(2)) to define stage III patients (sensitivity, 100%; specificity, 71.4%) were also useful to predict disease progression. CONCLUSIONS: The HRV markedly decreased, most likely because of autonomic dysfunction, in patients with HFMD and herpangina when complicated with central nervous system involvement and cardiopulmonary failure and may be useful parameters to monitor disease progression.     

Haemophagocytic lymphohistiocytosis: Five years’ experience at tertiary hospitals in Free State Province,South Africa

Background Haemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome if not recognised and managed early. It involves an uncontrolled pathological activation of the immune system, and it is either genetic or acquired. It presents with clinical and laboratory features of severe inflammation. Early initiation of effective therapy may reduce mortality from 95% to 35%. ObjectivesTo raise awareness of HLH among healthcare professionals, particularly intensivists. MethodsWe report nine cases of secondary HLH seen at tertiary hospitals in Bloemfontein, South Africa. Results All patients presented with fever, hypertriglyceridaemia, hyperferritinaemia, transaminitis and cytopenia. Haemophagocytosis was noted on bone marrow biopsy in 66.7% (n=6/9) of the patients. More than one-third (44.4%; n=4/9) of the cases were triggered by a lymphoma, 44% (n=4/9) were associated with infection and 11% (n=1/9) were associated HIV. Finally, 11.1% (n=1) of the patients were triggered by an underlying autoimmune disease. More than half (55.6%; n=5/9) of the cases had a fatal outcome. Conclusion A high index of suspicion may promote the accurate diagnosis of HLH in patients presenting with fever, transaminitis and unexplained cytopenia. Contributions of the study HLH is a rare, life-threatening condition that may be missed in the intensive care setting. This report emphasises the importance of clinical suspicion, early diagnosis and appropriate intervention.