Kartagener综合征1例的影像学诊断

文章报告1例有完整临床病史及影像学资料的Kartagener综合征,并通过复习文献探讨该病的病理基础及确诊依据.结果提示,右位心伴发反复呼吸道感染症状是诊断该病的重要线索;胸部及鼻窦CT检出支气管扩张和鼻窦炎可做出该病的影像基本诊断;同时追问家族史和其他先天性病变史,以及进一步检查以发现其他先天畸形可作为补充诊断.     

Kartagener综合征导致不孕1例报道

1病例资料患者,女性,31岁,大专学历,教师。因结婚5年不孕来我院就诊。该妇女13岁月经初潮,月经周期5d/30d,量中等,无痛经史。自述无任何不适,无心慌、气短、胸闷等症状;否认有盆腔炎、结核病、心脏病史及其他病史。姐姐已结婚生子,父母体健,祖父母     

Kartagener综合征1例诊治体会

本文报道了1例就诊20余年患者,历经3次住院,医生只考虑自己专业相关问题,而没有认真综合分析发生各种临床表现的根源,导致“脚痛医脚、头痛医头”的状况,甚至造成患者终生未孕的遗憾。提示接诊医生应该严格遵从“三基三严”的要求,从最基本的“望触叩听”入手,以整体的观点进行诊断分析。     

Rubinstein-Taybi综合征1例并文献复习

目的 总结Rubinstein-Taybi综合征(RSTS)患儿表现型及基因型。方法 回顾性分析1例2020年8月四川省妇幼保健院儿科门诊经家系Trio全外显子组测序检测诊断的RSTS患儿临床资料及基因突变结果。以“Rubinstein-Taybi and China”“Rubinstein-Taybi综合征”为索引词,分别应用PubMed、CNKI、万方等数据库选取中国RSTS患儿CREBBP基因突变阳性且临床资料完整的文献,并进行文献复习。结果 患儿,女,2岁5月,自幼全面发育落后,小头畸形,颅面畸形,宽拇指/趾、并指及小下颌等特征性表现。全外显子基因测序提示CREBBP基因存在新生杂合突变c.4648G>A突变,该突变在人类基因数据库中未见报道,Sanger测序未发现其父母、哥哥携带上述突变。通过对既往文献复习,总结了中国52例RSTS患者以颅面畸形、智力发育迟缓、苦笑面容、宽拇指/趾为主要表现,患者胎儿期诊断困难,基因突变方式以截断突变为主。结论 报道1例新发CREBBP基因突变致病的RSTS,扩展了RSTS突变相关患者的基因型谱。文献复习发现国内无产前诊断病例,基因检测...     

产前超声诊断美人鱼综合征1例并文献复习

<正>美人鱼综合征,又称人体鱼序列综合征或并腿畸形,是一种以不同程度的下肢融合为特征,并伴有肾发育不全、肛门直肠闭锁、外生殖器发育不全等,且多数为单脐动脉的罕见致死性畸形。本文产前超声诊断1例美人鱼综合征合并多发畸形,通过其产前超声及全外显子基因测序分析美人鱼综合征特征,并复习文献简述如下,以提高对该病的产前诊断准确率。1病例资料孕妇,22岁,G1P0,孕19周,因“外院超声提示胎儿畸形,羊水过少,颈项透明层厚度显示不清”入甘肃省妇幼保健院产前诊断中心会诊。既往月经规律,孕早期无服药史、放射性接触史,否认肾病、糖尿病等慢性病史,无家族性遗传病史。孕早期未行唐筛检查,此次入院行常规产科超声检查提示羊水极少,羊水指数8 mm,羊水最大深度6 mm,因肢体遮挡,腹腔脏器显示不清。     

Temple综合征1例并文献复习

Temple综合征(Temple syndrome,TS)是一种罕见的以基因组印记异常为致病机理的遗传病,印记异常定位于染色体14q32.1991年由Temple等首次报道,目前为止全球仅有80余例病例报道[1].患儿出生时低体重、吸吮无力、肌张力低下,身高增长缓慢,运动发育迟缓,可伴有轻度智力迟钝、特殊面容、脊柱侧凸...     

结核性变态反应综合征1例并文献复习

1 患病情况 患者,男,30岁,其父为涂阳肺结核病人,在陪同其父来本所就诊时,做密切接触者检查,PPD试验72 h结果20 mm×20 mm,胸片示右中肺活动性肺结核.     

Costello综合征1例报道并文献复习

正Costello综合征(Costello syndrome,CS) (MIM:218040) 最早由爱尔兰医生Costello于1971年报道,并在 1977年进一步阐释~[1]。此病致病基因HRAS(MIM:190020) 2005年被定位于11号染色体 p15.5。患儿生后即有极度喂养困难,明显的运动、体格和智力发育落后,并可伴发先天性多系统畸形和丑陋面容,以及较高的肿瘤易感性。本研究报道1例基因诊断明确的CS患者,并通过文献复习介绍     

Dandy-Walker综合征1例报道并文献复习

【目的】 通过文献复习Dandy-Walker 综合征,提高临床对本病的认识和诊疗。 【方法】 结合临床病例报道,复习Dandy-Walker 综合征文献并总结。 【结果】 Dandy-Walker 综合征的发生与遗传和环境因素有关,可伴其他畸形或综合征,影像学检查是主要的诊断依据。 【结论】 Dandy-Walker 综合征是一种先天性神经系统发育畸形,预后不良,早发现,早诊断,尤其是产前诊断具有重要意义。     

肺炎链球菌感染相关溶血尿毒综合征1例及文献复习

目的 了解儿童肺炎链球菌感染相关溶血尿毒综合征（SP-HUS）的临床特点及治疗转归。方法 回顾性分析1例采用血浆置换（PE）治疗SP-HUS患儿的临床资料，并查阅相关文献进行分析。结果 患儿男性，3岁3个月，因咳嗽10 d，加重伴发热、胸痛3 d为代主诉入院，具有溶血尿毒综合征（HUS）三联征，肺泡灌洗液培养和痰培养均为肺炎链球菌，诊断SP-HUS成立，经积极抗感染同时联合3次连续性肾替代治疗（CRRT）和2次PE治疗，患儿病情逐渐好转出院。文献复习发现，国内报道的两例SP-HUS患儿年龄分别为1岁6个月、3岁，均以肺炎起病，经积极抗感染和支持对症治疗，均好转出院。结论 对于肺炎链球菌感染患儿应加强重视，警惕并发HUS，婴幼儿为高危人群，综合治疗是治疗成功的关键。     

Bone marrow oxalosis with pancytopenia in a patient with short bowel syndrome: Report of a case and review of the literature

Systemic oxalosis is a condition in which calcium oxalate crystals deposit into various bodily tissues. Although this may occur as the result of a rare primary syndrome in which an error of glyoxylate metabolism causes an overproduction of oxalate, it is more often seen as a secondary process characterized by increased enteric oxalate absorption. Here, we describe a patient with short bowel syndrome on long-term parenteral nutrition support who developed a unique manifestation of systemic oxalosis, leading to deposition of oxalate crystals within the bone marrow contributing to pancytopenia. In this report, in addition to reviewing the literature on this presumably rare manifestation of oxalosis, we also discuss its pathogenesis in the setting of short bowel syndrome and its management, including prevention.     

肺炎链球菌感染相关溶血尿毒综合征1例及文献复习

目的了解儿童肺炎链球菌感染相关溶血尿毒综合征(SP-HUS)的临床特点及治疗转归。方法回顾性分析1例采用血浆置换(PE)治疗SP-HUS患儿的临床资料,并查阅相关文献进行分析。结果患儿男性,3岁3个月,因咳嗽10 d,加重伴发热、胸痛3 d为代主诉入院,具有溶血尿毒综合征(HUS)三联征,肺泡灌洗液培养和痰培养均为肺炎链球菌,诊断SP-HUS成立,经积极抗感染同时联合3次连续性肾替代治疗(CRRT)和2次PE治疗,患儿病情逐渐好转出院。文献复习发现,国内报道的两例SP-HUS患儿年龄分别为1岁6个月、3岁,均以肺炎起病,经积极抗感染和支持对症治疗,均好转出院。结论对于肺炎链球菌感染患儿应加强重视,警惕并发HUS,婴幼儿为高危人群,综合治疗是治疗成功的关键。     

Refeeding syndrome with enteral nutrition in children: a case report,literature review and clinical guidelines

Refeeding syndrome is a potentially fatal complication of the nutritional management of severely malnourished patients. The syndrome almost always develops during the early stages of refeeding. It can be associated with a severe derangement in electrolyte and fluid balance, and result in significant morbidity and mortality. It is most often reported in adults receiving total parenteral nutrition (TPN), although refeeding with enteral feeds can also precipitate this syndrome.We report what we believe to be the first case of refeeding syndrome in an adolescent with newly diagnosed Crohn's disease. This developed within a few days of starting exclusive polymeric enteral nutrition. A systematic literature review revealed 27 children who developed refeeding syndrome after oral/enteral feeding. Of these, nine died as a direct result of complications of this syndrome. We discuss the implications of this syndrome on clinical practice and propose evidence-based guidelines for its management.     

猫抓病合并吉兰-巴雷综合征1例报告并文献复习

猫抓病是由汉塞巴尔通体侵入人体后引起的一种感染性疾病,其临床表现多样,出现神经学表现者较为罕见,容易误诊。某院收治1例以"右侧腹股沟包块渐进性增大10 d,四肢麻木无力2 d"入院的45岁男性,病程中患者出现发热、右侧腹股沟淋巴结肿大、双下肢对称性瘫痪、感觉障碍,脑脊液检查示蛋白-细胞分离特征,诊断为吉兰-巴雷综合征,后经病理检查、既往猫抓咬史及宏基因组二代测序检出汉塞巴尔通体,最终确诊猫抓病。本文就该例猫抓病合并吉兰-巴雷综合征病例进行报告及文献复习,旨在提高临床对猫抓病的认识。     

肾素瘤1例报告

目的提高肾素瘤的诊断和治疗水平。方法回顾分析收治1例肾素瘤患者的临床资料,结合文献复习进行讨论。结果患者表现有高血压、高肾素、高醛固酮血症和低血钾,行保留肾单位的肾肿瘤切除术,术后病理示:肾素瘤。患者术后血压、血浆肾素、醛固酮和血钾等恢复正常,随访1年未见肿瘤复发及高血压再发。结论肾素瘤为罕见的良性肾脏肿瘤,肿瘤根治性切除效果满意,预后良好。     

Breast myoepithelioma. Report of a new case and review of literature

Breast myoepithelioma is rare. A case is reported of a 71 year old female. The tumor was clinically, radiologically and macroscopically demarcated. Diagnosis was based on histological and immunohistochemical studies. At the time of diagnosis the tumor was composed of myoepithelial cells with few cellular atypias and a low mitotic activity. Tumor cells expressed vimentin, actin, S100 protein and cytokeratin. No local or distant metastases were found. The patient had been treated initially with a large excision of tumor. Local recurrences detected 1 year after initial surgery and showed a similar morphology and immunoreactivity with higher mitotic activity. Mastectomy with axillary dissection was performed. No recurrences and no distant metastases detected 2 years later. Myoepithelial tumors generally considered as benign or low-grade lesion can give rise to a wide range of clinical evolution.