HIV阴性儿童马尔尼菲青霉病并发噬血细胞综合征1例及文献复习

目的探讨HIV阴性儿童播散性马尔尼菲青霉菌病(DPSM)并发噬血细胞综合征(HPS)的临床特征。方法回顾性分析1例HIV阴性儿童DPSM并发HPS的病例资料,并复习相关文献,总结其临床特征及诊治经验。结果患儿男,2岁7个月,临床主要表现为发热、咳嗽、面色苍白、肝脾肿大,辅助检查提示全血细胞减少,低纤维蛋白原血症,转氨酶升高,铁蛋白升高,EBV-DNA载量升高,HIV抗体阴性,血液及骨髓培养检出马尔尼菲青霉菌,骨髓涂片可见噬血现象及吞噬孢子,肺部CT提示多发结节、空洞,符合噬血细胞综合征及播散性马尔尼菲青霉病诊断标准;治疗上予HLH-2004方案,同时给予伊曲康唑联合两性霉素B脂质体抗真菌及支持等综合处理,病情一度好转,但反复,最终因呼吸衰竭死亡。结论 HIV阴性儿童DPSM并发HPS,临床上少见且表现缺乏特异性,病情进展快,预后差;早期诊断,早期治疗,可能改善预后。     

儿童急性白血病合并中枢神经系统真菌感染5例并文献复习

目的通过5例儿童急性白血病合并中枢神经系统(CNS)真菌感染的临床总结及相关文献复习,提高对本病的认识。方法回顾性分析北京儿童医院收治的5例急性白血病合并CNS真菌感染患儿的临床特点及诊治经过并文献复习。结果(1)4例急性淋巴细胞白血病(ALL)患儿均接受强化疗,1例为急性非淋巴细胞白血病(AML-M2)半相合造血干细胞移植术后,发生CNS真菌感染前均有肺部真菌感染病史,其中2例合并肝、脾、肾真菌感染,1例合并下肢皮肤真菌感染(2)实验室检查3例有病原学依据,1例烟曲霉菌,2例念珠菌,2例无病原学依据。(3)影像学5例患儿均作头颅CTMRI,表现脓肿、梗塞、颅内出血。(4)治疗及预后1例患儿伊曲康唑+脂溶性两性霉素B治疗,2例患儿伏立康唑治疗,2例患儿伏立康唑和两性霉素B联合抗真菌治疗,抗真菌治疗均有效,4例存活,1例死于严重移植物抗宿主病(GVHD)。结论儿童急性白血病合并CNS真菌感染为侵袭性真菌感染的表现形式之一,多半有其他脏器感染,临床表现不典型,可有脑膜炎或脑脓肿症状和体征,诊断困难,CT、MRI影像学检查重要,伏立康唑、两性霉素B抗真菌治疗有效。     

童急性白血病合并中枢神经系统真菌感染5例并文献复习

目的 通过5例儿童急性白血病合并中枢神经系统(CNS)真菌感染的临床总结及相关文献复习,提高对本病的认识.方法 回顾性分析北京儿童医院收治的5例急性白血病合并CNS真菌感染患儿的临床特点及诊治经过并文献复习.结果 (1)4例急性淋巴细胞白血病(ALL)患儿均接受强化疗,1例为急性非淋巴细胞白血病(AML-M2)半相合造血干细胞移植术后,发生CNS真菌感染前均有肺部真菌感染病史,其中2例合并肝、脾、肾真菌感染,1例合并下肢皮肤真菌感染(2)实验室检查3例有病原学依据,1例烟曲霉菌,2例念珠菌,2例无病原学依据.(3)影像学5例患儿均作头颅CT MRI,表现脓肿、梗塞、颅内出血.(4)治疗及预后1例患儿伊曲康唑+脂溶性两性霉素B治疗,2例患儿伏立康唑治疗,2例患儿伏立康唑和两性霉素B联合抗真菌治疗,抗真菌治疗均有效,4例存活,1例死于严重移植物抗宿主病(GVHD).结论 儿童急性白血病合并CNS真菌感染为侵袭性真菌感染的表现形式之一,多半有其他脏器感染,临床表现不典型,可有脑膜炎或脑脓肿症状和体征,诊断困难,CT、MRI影像学检查重要,伏立康唑、两性霉素B抗真菌治疗有效.     

婴儿中枢神经系统白色念珠菌病5例并文献复习

目的 总结婴儿中枢神经系统白色念珠菌病的临床特点和诊断治疗经验.方法 收集首都医科大学附属北京儿童医院2009至2011年收治的婴儿中枢神经系统白色念珠菌病连续病例(5例)的临床资料,总结其临床表现、实验室检查、影像学特征、治疗和随访情况,并文献复习.结果 男4例,女1例,年龄3～5月龄(平均4月龄),均无明显免疫缺陷...     

中枢神经系统异常为首发症状的非霍奇金淋巴瘤一例并文献复习

目的 探讨儿童非霍奇金淋巴瘤的诊疗关键.方法 报道分析1例以中枢神经系统异常为首发症状的儿童非霍奇金淋巴瘤的诊疗经过,并回顾复习相关文献报道.结果 患儿因头痛、呕吐起病,于外院行脑脊液检查发现异常;CT发现胰腺占位性病变,治疗无效转入我院,行超声内镜下胰腺肿块穿刺活检,病理报告符合非霍奇金淋巴瘤,根据临床、影像、病理最终诊断为Burkitt淋巴瘤四期.结论 儿童非霍奇金淋巴瘤的早期症状及体征复杂多变,缺乏特异性,以中枢神经系统异常为首发症状的罕见,极易误诊,并影响预后.     

儿童异基因造血干细胞移植后中枢神经系统淋巴增殖性疾病1例报告并文献复习

目的 探讨儿童异基因造血干细胞移植术(allo-HSCT)后中枢神经系统淋巴增殖性疾病(CNS-PTLD)的临床特点.方法 回顾分析1例行allo-HSCT患儿的临床资料,并复习相关文献.结果 患儿,13岁,男性,确诊为急性髓系白血病M 5型(TLS-ERG融合基因阳性),缓解化疗达完全缓解,TLS-ERG转为阴性,之...     

合并惊厥发作的X连锁Charcot-Marie-Tooth病1型1例报告并文献复习

目的分析X连锁Charcot-Marie-Tooth病1型(CMT1X)的发病机制及出现惊厥的可能原因。方法回顾分析1例合并惊厥发作的CMT1X患儿的临床特征以及基因检测结果,并复习相关文献。结果男孩,7岁6个月,以可逆性脑白质病变为首发症状且出现惊厥;基因检测显示患儿缝隙连接蛋白Bl (GJB1)基因发生突变,C.425GA(p.R142Q)。诊断为CMT1X。患儿与既往所报道病例的临床症状有差异。结论以惊厥为首发症状的CMT1X,系GJB1基因突变导致通道功能障碍所致,相同突变可出现不同临床表现。     

自身免疫性肝炎1例及文献复习

目的探讨儿童自身免疫性肝炎的临床及实验室特征,提高对该病的认识。方法对1例自身免疫性肝炎患儿的症状,体征,即往史,实验室检查进行分析,结合该患儿的诊疗过程,复习相关文献进行分析,并复习相关文献。结果患儿,女,11岁,腹胀3年,面色苍白伴乏力3个月,查体贫血貌,肝脾大,辅助检查示肝功能异常,血清IgG水平升高,自身抗体阳性,肝组织病理学检查可见汇管区大量浆细胞浸润并向周围肝实质浸入形成界板性炎症。行脾切除 门奇静脉断流术后开始口服肾上腺皮质激素,肝功能明显好转。结论临床有慢性或急性严重肝病表现且伴高丙种球蛋白血症者应怀疑自身免疫性肝炎,并行相关检查,早期诊断和治疗可尽量避免肝脏不可逆性损害。     

小儿播散性马尔尼菲青霉病诱发噬血细胞综合征1例报告及文献复习

1　病例报告患儿男 ,3岁。因发热 13ｄ ,全身皮肤广泛出血点及瘀斑、注射针口出血不止 2ｄ入院。患儿入院 13ｄ前无明显诱因发热 ,当地医院曾予多种抗生素治疗无效 ,入院 2ｄ前出现全身皮肤广泛出血点及瘀斑并有注射针口出血不止 ,当地医院血培养有丛生丝孢菌生长。体检 :体温 40℃ ,精神萎靡 ,易激惹 ,浅表淋巴结无肿大 ,肝右肋下 5ｃｍ ,脾左肋下 3ｃｍ ,心率 2 0 5 /ｍｉｎ ,律齐。眼睑、胸背部及皮肤可见大量出血点及瘀斑。实验室检查 :白细胞 15 4× 10 9/Ｌ以上 ,中性粒细胞 0 5 9,淋巴细胞 0 38,血小板 12× 10 9/Ｌ以下 ,血红蛋…     

克罗恩病合并红斑肢痛症1例报告及文献复习

目的探讨克罗恩病（Crohn’s disease,CD）合并红斑肢痛症（erythromelalgia,EM）的临床特点及其诊断和治疗。方法整理分析1例克罗恩病合并红斑肢痛症的13岁女童的临床表现、实验室和内镜检查结果、SCN9A基因分析和随访资料,并进行相关文献复习。结果患儿临床表现为食欲减退、乏力伴腹泻,双下肢端皮肤肿胀呈暗红色,肤温高并伴烧灼样疼痛。内镜检查见结肠呈多发性溃疡和息肉样隆起,病理检查提示为结肠黏膜局部脓肿形成。基因分析排除SCN9A基因突变。经口服泼尼松和美沙拉嗪,并联合双嘧达莫和低分子肝素钙治疗后,患儿临床症状渐获缓解。结论克罗恩病合并红斑肢痛症罕见,其发病机制可能与免疫因素、血小板增多和血液高凝状态等因素有关。应用糖皮质激素和5-氨基水杨酸并联合抗凝药物治疗可获得较好疗效。     

Central Nervous System Involvement in Congenital Visceral Fibromatosis

Congenital visceral myofibromatosis is an uncommon disorder characterized by multiple tumors of myofibroblastic origin in the neonatal period. The natural history of the disorder has been well delineated. The myofibro blast is the cell of origin of the tumor. This is a report of a patient in whom multiple mesenchymal tumors occurred in the CNS as well as in other organs. Light and electron microiscopic findings of the CNS lesions are similar to those of the somites and viscera.     

脑脊液细胞学检查在中枢神经系统白血病中的应用

目的探讨脑脊液(CSF)细胞学检查在中枢神经系统白血病(CNSL)中的诊断价值。方法采用细胞离心涂片机收集CSF细胞,经染色镜检进行CSF细胞学检查。结果在59例白血病患儿438次CSF细胞学检查中,发现病例和标本阳性率分别为15.3%(9/59)和8.7%(38/438)。结论CSF细胞学检查对CNSL的早期诊断和疗效观察及复发判断有重要价值。     

The Prognosis and Survival of Childhood Acute Lymphoblastic Leukemia with Central Nervous System Relapse

Central nervous system (CNS) relapse in childhood acute lymphoblastic leukemia (ALL) has been overcome by sensitive therapatic approachs. This study was planned to present the development of CNS relapse and survival in newly diagnosed 190 ALL patients whose cases were followed in the authors' unit between March 1991 and May 2002. St. Jude Study XI protocol was given to the patients who applied between March 1991 and March 1997 (group A) (n = 122), and St. Jude Study XIII protocol was given to the patients who applied between March 1997 and May 2002 (group B) (n = 68). The patients having isolated CNS relapse in group A received craniospinal irradiation (CSI) median 3.5 months after CNS relapse (range 2–6 months), a short time after reinduction, and 2 cures of consolidation. In group B, patients having isolated CNS relapse received IT once a month and a high-dose methotrexate treatment once every 8 weeks and 3 or 4, cures later therapy CSI median 7 months after CNS relapse (range 6–8 months) was given. When the overall survival rates of the 2 groups are compared, a statistically significant higher survival rate at 5 years was determined in group B than in group A (respectively, 82.3%, 58.4%) (p < .05). When subgroups of the patients (that is, those with no relapse, isolated CNS or BM relapse, or CNS + BM relapse) were compared in both groups, it was found that survival was much higher for the ones with no relapse and with isolated CNS relapse (respectively, 87.9%, 72.7%) compared to isolated BM or CNS + BM relapse groups (respectively, 10%, 13.3%) (p < .05). In a conclusion, for children with acute lymphoblastic leukemia and an isolated CNS relapse, with delayed definitive craniospinal irradiation allowing more intensive systemic and intrathecal chemotherapy results in better overall survival than has been previously reported.     

A Diagnostic Dilemma: Similarity of Neuroradiological Findings in Central Nervous System Hemophagocytic Lymphohistiocytosis and Aspergillosis

Central nervous system (CNS) involvement in the context of hemophagocytic lymphohistiocytosis (HLH) is not uncommon. Given the immunosuppressive nature of HLH therapy, infectious complications are also seen. We describe a 9‐year‐old male who developed acute neurological decline secondary to aspergillosis while undergoing HLH therapy. The significant overlap observed in CNS neuroimaging of HLH and aspergillosis and the subtleties that may help differentiate the two are discussed. The importance of obtaining tissue for definitive diagnosis is underscored.     

Chronic Granulomatous Disease Involving the Central Nervous System

Two male sibling infants died following a short course of lethargy and obtundation after a lifelong history of persistent, unrelenting diarrhea. Postmortem examination revealed extensive necrosis and early granuloma formation in the liver, spleen, lungs, and lymph nodes as well as in the central nervous system. To our knowledge, this fulminant clinical course, with documentation of granulomatous CNS lesions, has not been reported in patients with chronic granulomatous disease of childhood.     

Primary Central Nervous System Burkitt Lymphoma With Non-Immunoglobulin Heavy Chain Translocation in Right Ventricle: Case Report

Primary central nervous system Burkitt lymphoma (PCNSBL) is rare. Few cases of primary central nervous system involvement with sporadic Burkitt lymphoma have been reported and its treatment is now controversial. Here, the authors report a case of a 14-year-old boy suffering from non-immunoglobulin heavy chain (IgH) translocation PCNSBL. To the authors’ knowledge, this is the second case report describing primary Burkitt lymphoma involving cerebral ventricles. After receiving combination treatment with surgery, stereotactic radiosurgery, and a chemotherapy regimen including high-dose methotrexate, the patient had a disease-free survival of 18 months.     

Central Nervous System Malformations in a Perinatal/Neonatal Autopsy Series

Congenital malformations of the central nervous system (CNS) are among the most common anomalies, but data on the incidence of CNS malformations in autopsy populations are scant. We examined 4122 autopsies between the years 1958 and 1995. There were 363 cases (8.8%) with CNS malformations; 235 were neonates and 128 stillborns. The overall gender ratio was 1:1, although more male neonates and more female stillborns had malformations. The body weights ranged from 24 to 6440 g. Neural tube defects were the most common types of malformations (45.5%) and included anencephaly, meningoencephalocele, meningocele/meningomyelocele, craniospinal rachischisis, and spina bifida occulta. The incidences of other malformations were: congenital hydrocephalus (12.4%), neuronal/glial proliferation disorders such as micro- and macrocephaly (8.8%), neuronal migration disorders (8.8%), prosencephalon growth disorders such as holoprosencephaly and arhinencephaly (8.5%), abnormalities of the midline structures such as agenesis of corpus callosum (4.1%), developmental cysts (3.3%), cerebellar malformations (3%), and vascular malformations (2%). Miscellaneous malformations (3%) consisted of acephalia in four cases with twin reversed arterial perfusion (TRAP), two cases of hydranencephaly, and four cases of rare degenerative and metabolic encephalopathies. Received December 12, 1996; accepted June 19, 1997     

Elevation of Cerebrospinal Fluid Sialic Acid Concentration in Children with Central Nervous System Leukemia

ABSTRACT. We studied sialic acid in the cerebrospinal fluid (CSF) of 52 children with leukemia and 51 children with non-leukemic diseases. The CSF sialic acid concentration in the children with central nervous system (CNS) leukemia was significantly higher than that in the children with acute lymphoblastic leukemia without CNS involvement, acute non-lymphocytic leukemia without CNS involvement, non-hemopoietic diseases, non-suppurative meningitis, epilepsy, and other neurologic diseases. Serial determinations revealed a rapid decline in the CSF sialic acid concentrations in the patients with CNS leukemia who responded well to the therapy and who were free from relapse of CNS leukemia. The simultaneously determined CSF β2 microglobulin concentration did not show any significant changes. These results suggest that the CSF sialic acid may be a good indicator of CNS leukemia.     

肺炎支原体肺炎患儿中枢神经系统损害及其机制

目的观察肺炎支原体肺炎(MPP)患儿中枢神经系统(CNS)损害情况,并探讨其机制。方法收集2007年1月-2009年3月本院收治的MPP患儿325例,观察合并CNS损害的症状和体征,对有CNS损害的患儿进一步检测其血清和脑脊液中IL-8、IL-18和可溶性白细胞介素-2受体(sIL-2R)水平。以同期住院的病毒性脑炎患儿作为对照组。采用SPSS12.0软件进行统计学分析。结果325例MPP患儿中,22例(6.8%)出现CNS损害,主要表现为发热、呕吐、头痛和惊厥。MPP并CNS损害患儿血清和脑脊液中IL-8、IL-18和sIL-2R水平明显高于对照组,特别是脑脊液中IL-18和sIL-2R水平(Pa<0.01)。MPP并CNS损害患儿血清和脑脊液中IL-18与sIL-2R均呈正相关(Pa<0.01)。结论MPP合并CNS损害患儿血清和脑脊液中IL-18和sIL-2R水平明显升高,可能与肺炎支原体导致CNS损害的发生有关。