儿童颅内新型隐球菌肉芽肿临床分析

目的探讨儿童颅内新型隐球菌肉芽肿的临床表现、影像学特征及诊治方法。方法回顾性分析3例经手术后病理证实为新型隐球菌肉芽肿患儿的临床资料。结果 3例患儿均为女性,起病年龄4～12个月,均有癫发作。CT检查发现颅内异常占位病变伴钙化,头颅磁共振成像(MRI)示T1WI、T2WI均呈混杂异常信号。3例患儿切除病灶病理检查均可见特征性的新型隐球菌,部分钙化。手术切除病灶联合抗真菌治疗及对症抗癫治疗有效,长期随访预后良好。结论儿童颅内新型隐球菌肉芽肿罕见,尤其是婴幼儿起病者;对于临床癫反复发作难以控制,伴或不伴局灶神经系统损害症状,结合影像学颅内有异常病灶者,应怀疑该病。病理诊断为确诊方法。手术切除病灶联合抗真菌治疗及对症抗癫的综合治疗方法有效。     

儿童EB病毒相关平滑肌肿瘤1例

7岁女性患儿,因双下肢疼痛1年余入院。腰椎MRI提示椎旁团块状软组织肿块;头颅MRI提示双侧海绵窦区结节状肿块;胸部CT示右肺下叶外基底段及左肺上叶前段高密度结节灶。腰椎病变组织病理活检示EB病毒相关平滑肌肿瘤。基因检测示ITK基因存在c.725_730delAGAGTA（p.K242_S243del）新发突变。治疗上予手术切除腰椎处肿块,术后患儿双下肢疼痛消失。该文报道了1例EB病毒相关平滑肌肿瘤伴ITK基因缺失突变,为该病的诊断及治疗提供了经验。     

儿童颅内病变性癫痫影响手术效果的因素分析

目的 对儿童颅内局灶性病变伴癫痫外科治疗后影响其预后的相关因素进行探讨.方法 收集我科自2003年6月至2007年6月间收治的颅内局灶性病变伴癫痫的患儿71例,运用统计学方法对其病理结果、发病至手术时间、发病年龄、手术治疗年龄及脑电图结果等因素与患儿预后的关系进行分析,其预后运用Engel's system进行分级.结果 患儿颅内病变病理性质与其预后无相关,本组病例中各病理组之间对患儿术后癫痫的控制效果无统计学意义.发病至手术时间越短,发病年龄较小,手术治疗越早期,预后较好.VEEG提示放电范围广泛者预后较差,本组病例中术前VEEG监测示痫性放电累及多个脑叶或对侧大脑半球则术后癫痫控制效果较差.结论 对颅内局灶性病变伴癫痫患儿应首选早期手术治疗,VEEG提示放电范围广泛者预后较差.     

Clinical analysis of encephalic cryptococcal granuloma in children

目的 探讨儿童颅内新型隐球菌肉芽肿的临床表现、影像学特征及诊治方法.方法 回顾性分析3例经手术后病理证实为新型隐球菌肉芽肿患儿的临床资料.结果 3例患儿均为女性,起病年龄4 ～ 12个月,均有癫(癎)发作.CT检查发现颅内异常占位病变伴钙化,头颅磁共振成像(MRI)示T1WI、T2WI均呈混杂异常信号.3例患儿切除病灶病理检查均可见特征性的新型隐球菌,部分钙化.手术切除病灶联合抗真菌治疗及对症抗癫(癎)治疗有效,长期随访预后良好.结论 儿童颅内新型隐球菌肉芽肿罕见,尤其是婴幼儿起病者;对于临床癫(癎)反复发作难以控制,伴或不伴局灶神经系统损害症状,结合影像学颅内有异常病灶者,应怀疑该病.病理诊断为确诊方法.手术切除病灶联合抗真菌治疗及对症抗癫(癎)的综合治疗方法有效.     

抽搐，意识障碍，发热北大核心CSCD

患儿为学龄前女童,主因“抽搐、意识障碍伴发热2d”首次住院,诊断为“急性播散性脑脊髓炎（ADEM）”。予免疫治疗后症状恢复,头颅影像学表现有所好转,激素减量过程中头颅磁共振成像示病变加重,随后出现神经系统症状。患儿曾有一过性血常规三系降低,再次应用激素治疗病情好转,但颅内病变仍呈现进行性加重。患儿中枢神经系统脱髓鞘原因不明,在其同胞弟弟以“发热、肝脾大、三系降低”起病后,考虑“家族性噬血细胞综合征（FHPS）”,经病情分析及基因检查最终本患儿明确诊断“以中枢神经系统起病的FHPS”。提示不明原因中枢神经系统脱髓鞘病变,无论是否存在血液系统异常,均应注意考虑噬血细胞综合征的可能性,明确诊断后积极免疫治疗,并尽快行干细胞移植以改善预后。     

颅内多发性海绵状血管瘤15例

目的总结儿童颅内多发性海绵状血管瘤(CA)的临床特点与治疗策略。方法选取2003年1月-2011年5月临床诊断为儿童颅内CA患儿15例。对其临床表现、头颅影像学特征及预后进行回顾性分析。结果 15例患儿颅内CA中脑内型14例,脑外型1例。14例脑内型患儿临床表现为头痛8例,呕吐5例,癫发作4例,意识障碍3例,头晕、偏瘫各2例,肢体感觉障碍1例;1例脑外型患儿临床表现为单侧眼睑下垂,伴头痛、呕吐、复视。14例脑内型患儿CT检查发现30个病灶;MRI检查发现35个病灶,病灶周围一圈低信号30个,呈环状或半环状;颅脑血管磁共振成像检查结果阴性;2例数字减影脑血管造影检查阴性。14例患儿行手术治疗,其中3例因急性头痛、呕吐伴意识障碍于病程10 d内手术;11例病情呈间歇性发作,于病程0.5～12.0 a择期手术。结论儿童颅内CA以脑内型多见,临床表现缺乏特异性,主要表现为头痛、呕吐等颅高压症状,其次为癫发作等症状。头颅MRI检查是目前临床术前确诊颅内CA的最佳方法。外科手术是治疗颅内CA的主要方法,无症状或症状轻微的患儿可临床随访观察,如出现难治性局灶性癫、严重头痛、局部神经功能障碍应及时手术治疗。     

学龄前期女童发热2个月及意识障碍1周

快速肥胖伴通气不足、下丘脑功能不全和自主神经调节异常综合征（rapid-onset obesity with hypoventilation,hypothalamic dysfunction,and autonomic dysregulation syndrome,ROHHADS）是一种罕见的多系统疾病,诊治不及时可能导致灾难性心肺并发症。目前国内未见该病报道,该文报道1例ROHHADS患儿,以提高临床医生对该病的认识。3岁女童,以快速体重增长、发热、意识障碍及惊厥为主要临床表现。体格检查示体重20 kg,嗜睡状,呼吸不规则,颈抗阳性。辅助检查示血泌乳素及促卵泡素增高、低钠血症;腰椎穿刺示颅内压增高。头颅MRI和核磁共振静脉造影示脑室周围对称性病变,右侧横窦、上矢状窦静脉血栓形成,睡眠监测示低通气;患儿最终诊断为ROHHADS,颅内静脉血栓形成。经积极控制颅内压、抗凝及呼吸支持等治疗后病情好转出院。对于不明原因肥胖、发热、低通气,伴或不伴中枢神经系统症状患者,均需考虑ROHHADS可能。早期诊断和规范随访可改善患儿预后。     

肝豆状核变性头颅CT改变的临床意义

目的　分析儿童肝豆状核变性的头颅CT表现和临床特点及二者间的关系。方法　对临床和实验室检查证实为肝豆状核变性 16例患儿行头颅CT检查。结果　 13例以神经系统症状首发 ,2例以肝损害表现首发 ,1例以肝损害伴精神症状首发。头颅CT检查正常 4例 ,异常 12例 (占 75 % ) ,均表现为双侧基底核区对称性低密度灶 ,2例伴丘脑低密度灶 ,1例伴额叶低密度灶 ,3例有轻度或中度脑萎缩。 16例血清铜检查提示代谢障碍。结论　头颅CT对肝豆状核变性的诊断及预后具有重要意义     

儿童原发性肾病综合征合并颅内静脉血栓4例病例报告

目的 通过对原发性肾病综合征合并颅内静脉血栓患儿行临床分析,探讨儿童NS合并颅内静脉血栓早期诊断和治疗的可行方案。方法 纳入2012年1月至2015年9月在上海市儿童医院住院的原发性肾病综合征且经头颅CT和（或）MRI确诊的颅内静脉血栓患儿,对其临床症状、实验室指标、影像学检查结果、疗效及预后进行分析。结果 4例原发性肾病综合征合并颅内静脉血栓患儿进入分析,均为男性,年龄5岁4个月至11岁4个月,出现颅内静脉血栓时间距原发性肾病综合征起病时间为1个月至7年余。4例颅内静脉血栓发病时均有神经精神系统症状,查体均未见神经系统阳性体征。3例在颅内静脉血栓发病期间D-二聚体、纤维蛋白原降解产物（FDP）均升高,抗凝血酶Ⅲ（AT-Ⅲ）下降;确诊后D-二聚体、FDP较前继续升高; 4例血清白蛋白明显降低,总胆固醇明显升高。4例出现颅内静脉血栓临床症状当日或次日均行头颅MRI增强+MRV+MRA检查,3例为左侧乙状静脉窦血栓,1例为脑栓塞。明确颅内静脉血栓诊断后,3例予尿激酶溶栓,低分子肝素钙和双嘧达莫抗凝治疗;1例脑栓塞患儿予对症和抗凝治疗;4例症状均明显改善。3例出院后6~12个月随访头颅MRI增强+MRV显示颅内异常信号均有不同程度吸收。结论 儿童原发性肾病综合征合并 颅内静脉血栓易发生于左侧乙状静脉窦。在原发性肾病综合征病程中如出现神经精神系统症状时,应及时行头颅MRI相关序列检查,有助于颅内静脉血栓早期诊断;早期积极溶栓治疗预后良好。     

小儿颅脑外伤后继发癫痫18例

目的 分析和评价颅脑外伤后继发癫痫（PTE）患儿的临床、CT、MRI特征及其危害因素。方法 通过随访和EEG、CT及MRI等辅助检查，对患儿的年龄、临床发作史、意识、神经体征、头颅骨折、脑损伤程度及颅内并发症等方面进行分析和评价。结果 18例中，男12例、女6例；首发年龄：2个月－12岁，平均3岁8个月。其中小于5岁的婴幼儿多于后6－12个月发病。18例中呈部分及继发全身大发作共13例，局灶神经征及偏瘫12例；脑外伤后昏迷大于12h 11例，凹陷性及粉碎性骨折10例；CT示颅内血肿及皮层下混合损伤各12例；5例做MRI检查，其中4例有局限性长T2高信号；EEG示外伤后6－12周局限性慢波异常或阐述性放电明显增多，局灶或多灶性棘（尖）波或棘（尖）慢复合波13例，单一节律放电2例。结论 PTE可发生于各年龄期，婴幼儿发病较早，年长儿较晚；PTE发生的主要危险因素包括：昏迷＞12h的严重脑外伤、早期惊厥反复发作、局灶性神经征、凹陷性颅骨骨折、皮层及皮层下同时损伤、硬膜下及脑内出血等。PTE发作主要表现为部分或继发全身大发作；EEG具有早期诊断及预后判断价值。     

Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis

A 3-year-old boy had fever and bone pain. Magnetic resonance imaging of his femurs showed marrow replacement; iliac crest marrow biopsy revealed myelofibrosis. Although the pathologic criteria for Langerhans cell histiocytosis were not met, the clinical picture led to treatment with etoposide and methylprednisolone, without clinical improvement. One month after presentation, generalized tonic-clonic seizures occurred, and magnetic resonance imaging revealed parenchymal brain lesions. 2-chlorodeoxyadenosine was used. Because of the unexpected lack of response to etoposide and methylprednisolone, a second bone biopsy was performed. The diagnosis was revised to infantile myofibromatosis. After six courses of 2-chlorodeoxyadenosine, brain and bone lesions regressed, with resolution of the clinical symptoms.     

Wegener's granulomatosis in a 15-year-old boy

Wegener's granulomatosis (WG) is an uncommon systemic vasculitis that is rarely encountered in children. A 15-year old boy presented with a one-month history of nasal obstruction, hemorrhagic rhinorrhea, malaise, fever, anorexia and weight loss, together with high values of inflammatory markers, microscopic hematuria and progressive decrease of renal functions. Renal biopsy revealed rapidly progressive crescentic glomerulonephritis with rare findings of interstitial and periglomerular granulomas. The diagnosis of WG was established and intravenous methylprednisolone and cyclophosphamide therapy followed by oral application of prednisone and azathioprine led to a complete clinical and laboratory remission of the disease. The second renal biopsy performed after 28 months of treatment did not show any activity of the process. Currently, the boy is without any clinical or laboratory signs of active disease. Since untreated WG has a fatal prognosis, early diagnosis and appropriately aggressive immunosuppressive therapy are necessary for a favorable outcome.     

Moyamoya syndrome. An unusual case report in an 8-year-old boy and review of the literature

A Moyamoya disease in an 8-year-old german boy is reported. Medical history revealed attacks of hemiparesis and aphasia. The cerebral angiogram showed a typical, bilateral stenosis of the internal carotid arteries, collateral vessels as well as an occlusion of the basilar artery. Etiology, clinical findings, diagnostic procedures, differential diagnosis, therapy and prognosis of this rare disease is discussed on the basis of literature.     

Fatal cerebral toxoplasmosis in a leukemia child in remission

We report the case of a 4 year-old boy who died from cerebral toxoplasmosis while in remission from acute lymphoblastic leukemia. The clinical picture was remarkably insidious and non specific: diagnosis is particularly difficult in immunodepressed patients. Diagnosis was made on seroconversion. No autopsy was performed. An association of sulfadiazine-pyrimethamine is often effective, but the prognosis is poor in the absence of a specific and precocious treatment.     

Amebiasis presenting as rectal bleeding without diarrhea in childhood

A 6-year-old boy with no history of foreign travel had presented with rectal bleeding without diarrhea for 2 months. Despite negative stool cultures, a diagnosis of intestinal amebiasis was made by colonoscopy with tissue biopsy. In cases of persistent rectal bleeding, even without diarrhea, a diagnosis of amebiasis should be considered. When routine stool parasite examinations are negative, unsuspected amebiasis may be diagnosed by sigmoidoscopy or colonoscopy with tissue biopsy.     

Giant cell hepatitis with autoimmune hemolytic anemia in a Korean infant

Giant cell hepatitis (GCH) with autoimmune hemolytic anemia (AHA) is a very rare disease characterized by early onset and severe clinical manifestations, including immune hemolytic anemia and hepatitis with cholestasis. The prognosis is poor despite aggressive immunosuppressive therapy. We report here the first case of GCH with AHA in East Asia. A 2‐month‐old boy was admitted with jaundice. Blood test indicated abnormal liver function and low hemoglobin. Direct Coombs test and several autoantibodies associated with liver disease were positive, and liver biopsy was consistent with GCH. He was treated with prednisolone and ursodeoxycholic acid, and at the time of writing was in clinical and biochemical remission after prednisolone was stopped.     

Lymphomatoid granulomatosis after childhood acute lymphoblastic leukemia: report of effective therapy

Lymphomatoid granulomatosis, a rare condition in children, affects the lungs primarily but may have significant extrapulmonary manifestations, especially in the central nervous system. We report a case of lymphomatoid granulomatosis with onset after the completion of chemotherapy for childhood acute lymphoblastic leukemia. Two months after treatment ended, the 7-year-old girl developed splenomegaly, cervical adenopathy, and bilateral interstitial pulmonary infiltrates. She improved on cefotaxime but experienced a seizure 1 month later. A computed tomography scan of the head was normal, but her pulmonary infiltrates had become nodular. A computed tomography-guided biopsy of 1 of the nodules revealed cellular interstitial pneumonitis. One month later, she had persistent pulmonary infiltrates, marked splenomegaly, and new seizures. Magnetic resonance imaging of the head revealed cerebral nodules. Itraconazole was begun, and the pulmonary infiltrates resolved. Five months after her initial symptoms, she developed tonic pupil and a decreased level of consciousness. Dexamethasone was initiated. Needle biopsies of the brain were carried out, yielding the diagnosis of severe chronic inflammatory changes focally consistent with granuloma. The child redeveloped splenomegaly and fever, and then suffered an acute decompensation with hypoxemia, tachypnea, splenomegaly, and cardiac gallop. Open-lung biopsy revealed lymphomatoid granulomatosis. Lymphoma-directed therapy was initiated, and the patient had complete resolution of pulmonary and cerebral nodules 5 months later. No intrathecal chemotherapy was administered, and radiation therapy was not necessary. Neuropsychological testing obtained after completion of therapy revealed an improvement in attention, coordination, and fine motor speed over time. She is now in good health and attending school.     

Sellar and suprasellar medulloepithelioma

Medulloepithelioma is a rare tumour with a very poor prognosis. The most frequent site in the central nervous system is the cerebral hemispheres. Appearances on MRI are very variable, possibly reflecting the divergent forms of differentiation seen at histological examination. We report a rare case of sellar and suprasellar medulloepithelioma in a 2-year-old boy and discuss the imaging, differential diagnosis and pathologic findings. Received: 28 July 1999 Revised: 13 January 2000 Accepted: 5 November 2000     

Cerebral thrombosis in childhood nephrosis

Sinovenous thrombosis is an uncommon but serious complication associated with nephrotic syndrome in children. We describe a 9-year-old Caucasian boy who presented with dehydration, vague neurological symptoms and seizures. A diagnosis of nephrotic syndrome was made during the course of hospitalization. The serum antithrombin III level was decreased and brain imaging showed cerebral sinovenous thrombosis. Anticoagulant therapy with heparin was commenced and the patient made a slow but gradual clinical, as well as radiological recovery. We describe this case and review available literature to highlight the importance of suspecting and recognizing this potentially life threatening complication and initiating early treatment.     

Gliomatosis cerebri

Gliomatosis cerebri is a rare and typically fatal tumor of neuroepithelial origin causing a diffuse infiltration of brain structures with mild or negligible destruction of parenchymal architecture. Very few cases have been reported in children. A 6-year-old boy who presented with worsening hemiplegia, behaviour problems and seizures after an episode of encephalitis-like illness is reported. MRI revealed diffuse signal change and swelling of the left cerebral hemisphere. The diagnosis of gliomatosis cerebri was confirmed by brain biopsy. Parents refused radiotherapy and the child worsened and died 6 months after diagnosis.