儿童白塞氏病1例报告

儿童白塞氏病临床罕见,我院1例,介绍如下。病史摘要患儿,男,7岁。住院号363140。患儿于入院半年多前发现无诱因的两下肢肿痛,有时波及全身,活动障碍,伴散在性压之不褪色的硬红斑样皮疹,均以踝关节为甚,常伴发热。曾用抗生素和激素等治疗,症状时现时愈,间隔长短不一,有时不治亦可消退。     

儿童慢性肉芽肿病1例尸检报告

女,4(1/2)月。因哭吵呕吐3天,出现呻吟及棕色便入院。生后1周四肢皮肤出现块状红肿,以后渐有     

儿童空肠克隆氏病1例报告

男,12岁。因间歇腹痛、低热7个月,腹痛加重伴呕吐4天入院。腹痛位于脐周,拒按,痛剧时大汗淋漓,辗转不安,用解痉剂可缓解。7个月来上述症     

以水肿起病的儿童Menetrier病1例报告

<正>1病例资料患儿女,4岁7个月,2015-03-31入住西安市儿童医院肾内科,主诉:反复水肿5 d,加重1 d。5d前患儿无明显诱因出现双眼睑水肿,晨起明显,无肉眼血尿,无头晕、头痛,有恶心,呕吐2次,为胃内容物,在当地查尿常规正常。1 d前水肿加重,伴     

儿童2年内川崎病多次复发1例报告

目的探讨儿童川崎病(KD)多次复发情况。方法回顾分析1例多次复发KD患儿2年的临床资料。结果患儿,男,4岁。于2岁时第1次患典型KD,无冠状动脉损伤,以后2年内又患不完全KD共4次,均表现为发热伴颈部淋巴结肿痛、双侧球结膜充血、唇红、皲裂、杨梅舌,无咽痛、咽炎、口腔溃疡,血常规白细胞计数、C反应蛋白、红细胞沉降率均升高,颈部淋巴结超声均未见化脓性改变,大剂量丙种球蛋白静脉输注后均退热,每次发热持续时间为6~8 d,相邻2次发热之间的无热间隔期约为2.5、1.5、4.5、13.5个月,临床表现和基因检测结果均不符合周期性发热、口疮性口炎、咽炎及颈淋巴结炎综合征(PFAPA)。结论儿童2年内患5次KD罕见,需要长期随访。     

儿童恙虫病4例报告

例1 女,9岁。头痛高热5天伴抽搐神志不清1天入院。体检:T40℃,浅昏迷,右侧颌下淋巴结肿大,直径3cm,有压痛,右耳后有一凹入皮肤直径为0.7～1.cm的椭圆型黑色焦痂。肝肋下2cm,WBC4.7×10~9/L,PL80 ×10~9/L。尿蛋白+,尿红     

儿童高雪氏病一例报告

高雪氏病是少见病例,又称脑脂单核一巨噬细胞病,是一种少见的先天性家族性疾病。是常染色体隐性遗传,男女均可发病。临床上有肝脾肿大、贫血、骨痛、骨髓中高雪氏细胞侵润,有些患者可出现神经系统症状,四肢强直、眼内斜等。现将我院收治的一例报告如下：崔XX、女1岁4个月,吉林省延吉市人,朝鲜族,入院前半年反复呼吸感染、咳嗽、发热,体温在38—39oC,以肺炎、脾大待查入院。既往史无特殊;家中无类似患者。查体：发育欠佳,面色苍白,神志清楚,浅表淋巴结无肿大,心界不大,双肺呼吸音粗,双肺下部可闻少量细湿罗音,心界不大,…     

儿童大动脉炎1 例报告

目的探讨儿童多发性动脉炎发作的临床特点。方法分析1例最终确诊为大动脉炎患儿的临床资料,并复习相关文献。结果 7岁女性患儿,反复不明原因发热,炎症指标均明显升高,抗感染治疗无效。行正电子发射计算机断层显像(PET-CT)考虑血管炎。给予糖皮质激素治疗后,病情出现反复,行血管造影明确大动脉炎诊断。随后予手术、糖皮质激素及环磷酰胺联合治疗,未再复发。结论对于不明原因发热,伴炎症指标升高而抗感染治疗无效者,需警惕多发性动脉炎;早期行PET-CT,确诊后使用糖皮质激素及环磷酰胺联合治疗可有效改善预后。     

Jejunal Dieulafoy’s lesion: case report and literature review

Dieulafoy’s lesions are rare and usually present in the stomach. There are only 18 cases of jejunal Dieulafoy’s lesion reported. It can present as a massive gastrointestinal bleed and a high grade of suspicion is necessary for a quick and effective approach. The authors present the case of a 14-year-old adolescent with a sudden onset of hematochezia and shock. The high and low endoscopies as well as the arteriography were all inconclusive. An exploratory laparotomy was undertaken in the first 24 h of hospital admission. A review of the small bowel by advancing soft bowel clamps in a sequential manner revealed a bleeding lesion in the jejunum. The histological exam showed a Dieulafoy’s lesion.     

弥漫性泛细支气管炎一例及文献综述

目的探讨儿童弥漫性泛细支气管炎的诊断和治疗。方法总结1例弥漫性泛细支气管炎患儿的临床、影像学表现以及病理改变,并复习相关文献。结果患儿临床表现为长期咳嗽、咯痰伴喘息,逐渐出现呼吸困难。双肺闻及较多细湿哕音及喘鸣音,杵状指可疑。胸部X线片：两肺透光度增强,左下肺见多发结节及网状影。胸部高分辨CT：两肺广泛分布小叶中心性细小结节影,左下肺局部小支气管壁增厚,双下叶和右中叶少许支气管轻微扩张。副鼻窦科瓦位提示副鼻窦炎。支气管镜肺活检病理提示支气管上皮破坏,管壁可见大量淋巴细胞、少量泡沫状组织细胞、中性粒细胞浸润,有淋巴滤泡形成,周围肺泡壁有少许淋巴细胞、组织细胞浸润,肺泡壁组织增生不明显,偶见局部纤维化并突入肺泡腔。常规肺功能提示混合性通气功能障碍,支气管舒张试验阳性。PaO2 65mm Hg。根据临床、影像表现、病理改变以及目前弥漫性泛细支气管炎的诊断标准,确诊为弥漫性泛细支气管炎。给予小剂量红霉素[5～10mg／（kg·d）]治疗,患儿病情明显好转。结论弥漫性泛细支气管炎可发生于中国儿童。主要诊断依据为慢性咳嗽、咯痰伴喘息,胸部CT表现为两肺弥漫性分布的小结节影,为细支气管中心性或小叶中心性,伴有副鼻窦炎。小剂量红霉素治疗可控制病情。     

Salmonella retropharyngeal abscess in a child: case report and literature review

Retropharyngeal abscess is a rare but serious disease in children. Salmonella species are uncommon causative agents of deep neck infections. We present the clinical course of a 10-year-old boy with a retropharyngeal abscess caused by Salmonella lomita and review 18 previously published cases.     

Severe pseudomembranous enterocolitis in a child: case report and literature review

Antibiotic-associated pseudomembranous enterocolitis (PMC), an inflammatory gastrointestinal disease mediated by toxins produced by Clostridium difficile, is increasingly recognized in the pediatric population. We report a case of fulminant PMC in an otherwise normal 2 1/2-year-old child after antibiotic therapy given for a routine childhood illness. The patient had debilitating colitis marked by severe diarrhea, a generalized electrolyte derangement, an extreme protein-losing enteropathy state, rectal prolapse, ascites, pleural effusion, varicella and multiple relapses. The child required specific antimicrobial therapy as well as aggressive supportive care to achieve recovery. A review of the literature for pediatric cases of PMC revealed reported cases in all age groups; the youngest was 5 days old. There were 9 deaths in 43 cases for a mortality rate of about 20%. All but 2 of the cases were associated with antibiotic therapy. The antibiotics most frequently implicated were ampicillin (15), penicillin (11), cephalosporins (7), amoxicillin (6) and clindamycin (5). The onset of symptoms of PMC can begin at any time while the child is taking an antibiotic or up to 21 days after it is discontinued. Children with underlying gastrointestinal motility disorders such as Hirschsprung's disease are predisposed to PMC. Fulminant PMC is a serious but uncommon infectious disease of infancy and childhood, occurring as a complication of routine antibiotic therapy for common childhood illnesses.     

Thymoma in a child: case report and review of the literature

Thymic lesions comprise approximately 2–3% of all pediatric mediastinal tumors and include thymic cysts, hyperplasia, carcinoma, and thymomas. Thymomas, which represent less than 1% of all mediastinal tumors, are rare mediastinal tumors in the pediatric population. Fewer than 30 cases in children have been described in the literature. These tumors are typically aggressive, with poor outcomes. We report a thymoma in a 14-year-old girl and review the available literature on thymomas and their treatment.     

Concurrent development of Crohn disease and myelodysplastic syndrome in a child: case report and literature review

A small number of cases of Crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed Crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone marrow showed a chromosome 20 abnormality. Although chromosome 20 abnormalities have been reported in a minority of these patients, the significance of this association remains unclear at the present time.     

婴儿型Sandhoff 病1 例报告并文献复习

目的探讨婴儿型Sandhoff病的临床表现、诊断及治疗。方法回顾分析1例婴儿型Sandhoff病患儿的临床资料,并复习相关文献。结果 1岁2个月女性患儿,有神经运动发育倒退、顽固性抽搐;父母为近亲婚配;眼底镜检查见眼底红斑;头颅磁共振成像示左侧脑桥可见一小点状长T 2等T1异常信号影,脑白质水肿、弥漫性脱髓鞘改变;染色体核型未见异常;染色体微阵列提示多条染色体发生大片段纯合子;二代基因测序提示HEXB基因外显子11存在c.1263_1268del TGAAGT:P.(Glu422_Val423del)缺失突变及内含子13存在c.1614_2AG:P?剪切突变,父母各携其一。白细胞Hex A、Hex AHex B酶活性分别为84、112 nmol/(mg·h);确诊为婴儿型Sandhoff病。治疗采用丙戊酸钠、左乙拉西坦联合抗癫痫及糖皮质激素,患儿抽搐发作次数逐渐减少,反应较前好转;随访5个月,病情平稳无进展,无抽搐发作。患儿母亲再次妊娠,并于孕21+6周时行羊水穿刺检查,结果提示胎儿与患儿存在相同的突变。结论 Sandhoff病是一种罕见的遗传性溶酶体病,主要表现为进行性神经功能损害,目前缺乏有效的治疗方法,基因检测有助确诊及产前诊断。     

儿童抗接触相关蛋白2抗体自身免疫性脑炎1例并文献复习

目的探讨抗接触相关蛋白2(Caspr2)抗体自身免疫性脑炎的临床特点。方法回顾1例Caspr2抗体脑炎患儿的临床资料,并复习相关文献。结果女性患儿,5岁,表现为近期记忆力下降、易动怒、认知功能受损、幻觉、睡眠紊乱等;血清Caspr2抗体阳性,除外其他疾病后诊断Caspr2抗体脑炎。文献检索到资料完整的Caspr2抗体脑炎50例,男43例、女7例,起病年龄最小为本例患儿5岁,另有1例8岁,其余均为成人起病;边缘性脑炎32例(62. 75%),莫旺综合征19例(37. 25%);最常见的临床症状是记忆受损,癫痫发作,精神症状如焦虑、淡漠、易激惹、幻觉或妄想、周围神经高兴奋性、小脑共济失调及自主神经紊乱等;痊愈或好转44例(86.27%),合并肿瘤8例(15.69%),复发8例(15.69%)。结论 Caspr 2抗体脑炎比较少见尤其是儿童罕见,如患者有边缘性脑炎症状,且合并周围神经高兴奋性、共济失调、自主神经症状等需考虑Caspr2抗体脑炎可能。     

Rhabdomyoma of a rare type in a child: case report and literature review.

We describe a 9-year-old boy who presented with dyspnea and with a neck mass which was initially described as a thyroid nodule. At the end of the diagnostic-therapeutic research this mass was finally diagnosed as an adult rhabdomyoma originating from the mediastinum. This is an extremely rare tumor which is usually found in the adult population.