儿童颅内脑膜瘤19例报告

目的 分析总结儿童颅内脑膜瘤的临床特点及治疗效果。方法 经手术和病理证实15岁以下儿童脑膜瘤19例，其中男9例，女10例。年龄6－15岁，平均10.9岁。临床表现以颅内压增高（11例）、颅神经麻痹（7例）和癫痫（6例）为主。CT和MRI检查发现肿瘤钙化4例，占21.5%(4/19)，囊变3例16.5%(3/19)，出血1例5.2%(1/19)。肿瘤位于大脑凸面4例，侧脑室3例，岩斜区3例，侧裂2例，鞍区2例，中颅窝底2例，矢状窦旁、大脑镰及枕大孔各1例。术中见肿瘤与硬脑膜明显粘连5例，贴近硬脑膜但无明显粘连9例，2例侧裂脑膜瘤与硬脑膜完全无关，侧脑室3例起源于脉络丛组织。病理报告纤维型脑膜瘤8例，内皮型脑膜瘤5例，砂粒型脑膜瘤2例，混合型脑膜瘤1例，非典型脑膜瘤1例，未分类2例。结果 肿瘤全切除15例，不全切除4例，无手术死亡。随访9例（6个月－4年），能正常参加学习和劳动者5例，有癫痫发作2例，肿瘤复发2例。结论 儿童颅内脑膜瘤的发病率无女性优势，肿瘤的发生部位与成人不同，肿瘤与硬脑膜关系不密切。手术全切除肿瘤是治疗的关键。     

儿童颅咽管瘤术后死亡原因分析

为了解儿童颅咽管瘤术后死亡原因，提高手术治愈率，对２７例经手术和病理证实的颅咽管瘤术后死亡原因进行回顾性分析。颅咽管瘤术后主要死亡原因为癫痫、肺水肿、肺炎、颅内压增高、水及电解质紊乱、视丘下部综合征、颅内感染。选择适宜的手术入路并尽可能全切除或近全切除肿瘤，减少并发症是提高疗效的关键。     

丘脑肿瘤的临床特征和外科治疗

目的 研究儿童丘脑肿瘤的临床特征和外科治疗效果。方法 回顾性研究手术治疗丘脑肿瘤儿童22例的临床资料，并进行6个月～9年随访。结果 丘脑肿瘤儿童平均年龄9岁，男童略多于女童，病程约2个月，头痛和视乳头水肿为最常见的症状和体征，病理类型以低级别的胶质瘤最常见，大部分丘脑肿瘤影像表现边界较清。显微外科治疗肿瘤全切9例，次全切8例，部分切除3例，活检2例。术后症状和体征好转10例，不变8例，加重4例，无手术死亡。结论 儿童丘脑肿瘤临床特征明显，手术切除近期疗效肯定，远期疗效取决于病理类型。     

儿童胚胎发育不良性神经上皮肿瘤

目的 探讨儿童胚胎发育不良性神经上皮肿瘤(dysembryo plastic neroepithelial tumor,DNT)的临床特点、诊断及手术治疗.方法 回顾性分析了2003年1月至2008年5月手术治疗的13例儿童胚胎发育不良性神经上皮肿瘤的临床和病理资料.结果 患儿以难治性癫痫为主要临床表现.本组患儿均接受了显微外科手术治疗,其中全切10例,近全切3例.磁共振成像示皮质或皮质下低T1、高T2信号,病灶边界清晰,无水肿及占位效应.肿瘤病理学检查可见特异性胶质神经元成分.随访13例患儿中2例于术后1年内出现癫痫发作,近全切的1例表现为强直性发作,全切的1例为失神性发作,均与术前发作形式相同,但发作频率明显减少(频率减少≥75%),术后随访癫痫发作控制满意.结论 DNT为良性肿瘤,手术治疗效果好.准确诊断对本病的治疗有重要意义.     

儿童Rathke囊肿的临床特点及显微外科治疗

目的分析、探讨儿童Rathke囊肿的临床特点及其显微外科治疗。方法回顾性分析了我院1993年6月至2004年3月间经手术及病理证实的20例儿童Rathke囊肿病例。患儿的主要临床表现为内分泌异常、视觉障碍、头痛。所有患儿均接受了显微外科手术治疗，其中经蝶手术3例，经额开颅17例；全切8例，近全切5例，大部切除7例。结果本组患儿术后随访5个月至8年，绝大部分患儿症状消失或改善，且均无复发。其中，内分泌异常表现明显减轻或消失者14例，占(14／18)77．8％；头痛症状消失者10例，占(10／12)83．3％；视觉障碍患儿的视力均得到改善。结论儿童Rathke囊肿术前确诊困难，影像学检查无特异性。对于儿童症状性Rathke囊肿，显微手术可明确诊断、改善症状，患儿预后均良好。显微外科手术是治疗本病的有效方法。     

儿童脑肿瘤的临床治疗及病理特点研究

目的探讨儿童脑肿瘤的诊疗、手术、病理特点及治疗效果。方法对1999年1月～2005年5月间我科手术的儿童脑肿瘤72例进行回顾性分析。结果恶性肿瘤51例，良性肿瘤21例，恶性肿瘤占70．8％；幕上肿瘤38例，其中恶性肿瘤20例。幕下肿瘤34例，其中恶性肿瘤31例。肿瘤全切除、次全切除49例，大部分切除13例，部分切除10例。术后放射治疗43例，占手术病例的59．7％。化疗26例，占手术病例的36．1％。随访到47例，其中恶性肿瘤仍存活21例，已死亡13例。结论儿童脑肿瘤的治疗以手术切除为主，根据各个病例的特殊性，制定不同的手术切除方案，术后进行放疗，但应有别于成人脑肿瘤。恶性肿瘤选择适合的病例进行化疗，对于延长儿童的生存期是有效的。     

儿童胫腓骨骨与纤维发育不良的诊断与治疗

目的：探讨儿童胫骨骨与纤维发育不良的诊断、治疗和预后。方法：在复习文献的基础上,对1992年以来手术治疗和门诊观察的10例儿童胫腓骨骨与纤维发育不良的临床表现、X线特征和手术治疗结果进行回顾性分析。结果：7例手术刮除后都出现术后复发,1次复发者2例、2次复发者4例,3次复发者1例。结论：儿童胫骨骨与纤维发育不良是一种侵袭性瘤样病变。在发病年龄、X线及病理表现、临床过程等方面,与单发性长骨纤维发育不良均有明显的区别。儿童期手术治疗极易复发,因此,应将手术治疗推迟到骨骼成熟时实施。     

儿童颞叶症状性癫痫的手术治疗

目的：探讨儿童颞叶症状性癫痫的原因和临床特征并总结手术治疗经验。方法：对我院自1994年1月至2002年8月手术治疗的17例儿童颞叶症状性癫痫，男11例，女6例，年龄3～14岁，平均9岁，均以癫痫为首发症状，病程13d到7年，平均为4．3年。手术方式为：单纯病灶切除6例，病灶加前颞叶切除11例，其中13例再行皮层脑电极检查，12例仍发现致病波，则加大病灶切除范围和／或病灶周围皮质区多处软膜下横纤维切断。结果：17例患儿无手术死亡及并发症。随访16例，时间为6个月～7年，术后症状完全消失者12例(占70．6％)，术后癫痫发作显著减少者(发作频率不到原来的25％)3例(17．6％)，术后癫痫发作减少者(发作频率不到原来的50％)2例(11．8％)。结论：在皮层脑电极监测下，多种手术方法结合治疗颞叶症状性癫痫患儿安全有效。     

儿童囊性肾瘤和囊性部分分化型肾母细胞瘤的诊治分析

目的总结儿童囊性肾瘤和囊性部分分化型肾母细胞瘤的临床、病理特点,探讨合理的治疗方法。方法回顾性分析本院收治的7例儿童囊性肾瘤、6例囊性部分分化型肾母细胞瘤患儿的临床资料,包括年龄、临床表现、影像学及病理检查结果、治疗和预后。结果13例患儿中,男8例,女5例,年龄4个月至4岁,平均1岁7个月。左侧6例,右侧5例,双侧2例。腹部包块9例,B超偶然发现4例,术前均行B超和增强CT检查。5例7侧行肿瘤剜除术,8例行瘤肾切除术。术后随访6个月至7年,未见肿瘤复发,保留肾脏的5例中,7侧残肾功能良好。结论囊性。肾瘤和囊性部分分化型肾母细胞瘤患儿术前无法鉴别,手术完整切除是主要的治疗方法,肿瘤位于肾脏一极或双侧者可行保留肾脏的肿瘤剜除术。囊性肾瘤为良性病变,术后无需化疗,囊性部分分化型。肾母细胞瘤为低度恶性或潜在恶性,Ⅰ期者可单纯手术治疗,Ⅱ期以上需行手术＋化疗。     

儿童室管膜下巨细胞星形细胞瘤

目的探讨儿童室管膜下巨细胞星形细胞瘤（SEGCA）的临床、影像、病理表现及显微外科手术方法。方法回顾性分析1996年-2004年8年间6例儿童SEGCA的临床资料，6例患儿平均年龄12岁，以癫痫（4／6）和颅内压升高（4／6）为主要症状，MRI表现为侧脑室壁可强化的占位性肿块。结果全部病例采用显微外科手术治疗，无一例死亡，经病理检查证实为SEGCA。术后患儿症状基本消失，随访2～8年，无一例复发。结论儿童SEGCA具有典型的临床表现和MRI特征，作为一种先天性病变，其最佳治疗方法是早期确诊并采取显微外科手术方法切除。     

Atypical cystic meningioma overexpressing AQP1 in early infancy: case report with literature review

Meningiomas in early infancy are rare lesions, worth to be reported for their exceptional occurrence. The authors report a case of an 11-month-old female child with asymmetric macrocephaly due to the presence of a cystic atypical meningioma associated to bilateral subdural collections. CONCLUSION: This unusual and unique case of atypical cystic meningioma in early infancy showed a high positivity to immunostaining of aquaporin 1, and this pattern could correlate with the coexistence both of cysts and subdural collections.     

持续胸痛4个月及进行性下肢无力2个月

患儿,男,5岁。因胸痛4个月,右下肢无力2个月,双下肢无力10 d入院,无排便、排尿障碍,无意识障碍,双下肢呈上运动神经元性瘫痪,无颅神经受累,无感觉障碍。脊髓MRI示颈6~胸2椎管内肿瘤,压迫脊髓。转入神经外科手术治疗,患儿手术切除肿瘤后逐渐康复,随访6年未复发。该患儿病理诊断为透明细胞型脑（脊）膜瘤（WHO Ⅱ级）。儿童胸痛伴运动障碍,应与脊膜瘤这种椎管内肿瘤鉴别。     

Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk

 A 5-year-old girl presented with multiple tumours of the central nervous system. As on the first MRI scan bilateral vestibular schwannomas were not detected due to their small size, she initially did not meet the criteria for neurofibromatosis type 2 (NF2), although her clinical symptoms were highly suggestive for the diagnosis. Using molecular studies, a mutation in the NF2 gene was found confirming the clinical suspicion at an early age and indicating the value of molecular analysis. Follow-up MRI 3 years later demonstrated bilateral vestibular schwannomas more clearly, since they had increased in size. Conclusion In children, magnetic resonance imaging can be inconclusive for the diagnosis of neurofibromatosis type 2, since very small vestibular schwannomas may be missed. In these cases molecular studies may provide additional evidence for the diagnosis. We propose guidelines for a screening protocol for children at risk for having neurofibromatosis type 2. Received: 11 October 2000 / Accepted: 27 February 2001     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

�¶�֢��ϵ�ϰ���ע��ȱ�ݶද�ϰ������ڵ�ת��

孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.