新生儿先天性皮肤缺损17例

目的探讨新生儿先天性皮肤缺损的临床救治和创面处理方法。方法17例先天性皮肤缺损患儿通过采用抗休克、补液治疗,创面暴露或包扎换药,皮瓣转移手术等单一或综合处理方式进行治疗,总结其恢复过程中休克的处理时机,抗休克效果,液体补充规律,液体输入过程和液体治疗结果,不同面积、部位、缺损创面处理方式和注意事项。结合文献及临床结果,对先天性皮肤缺损患儿手术处理的必要性进行探讨总结。结果本组17例新生儿均恢复良好,无在院死亡或严重并发症发生。头顶皮肤缺损患儿1例自动出院后失访。16例随访1a,7例无明显瘢痕,功能恢复良好,局部仅留轻度色素改变;4例有轻度的瘢痕组织,均无明显功能影响;3例出现瘢痕增生、挛缩,其中2例并小脚趾萎缩;枕部和前胸皮肤缺损的患儿除切口瘢痕外,创面愈合良好。结论早期诊断、合理、正确的治疗可使新生儿先天性皮肤缺损有良好的预后。     

小儿先天性肥厚性幽门狭窄合并肠旋转不良的临床特点

目的 探讨小儿先天性肥厚性幽门狭窄合并肠旋转不良的临床特点.方法 回顾性分析2003年1月至2009年12月于我科治疗的6例先天性肥厚性幽门狭窄合并肠旋转不良患儿的临床资料.结果 通过胃肠透视及超声检查,4例患儿术中确诊该病并经1次手术解决,2例术前仅诊断为先天性肥厚性幽门狭窄,行幽门肌切开术,再次出现呕吐后行2次手术发现肠旋转不良.所有病例预后良好.结论 先天性肥厚性幽门狭窄合并肠旋转不良较为少见,病因不清,先天性肥厚性幽门]狭窄的症状易掩盖肠旋转不良的临床表现而贻误其诊断.胃肠透视对于诊断该病有重要意义,彩超检查有良好的应用价值,及时的诊断治疗可获得良好的治疗效果.     

儿童急性胰腺炎的个体化治疗

目的探讨儿童急性胰腺炎(AP)的病因、诊断及其个体化治疗方案。方法对6例轻型AP患儿及2例重症AP患儿的临床资料进行回顾性分析,包括病因、临床表现、实验室及影像学检查,并对其采取个体化治疗。结果6例轻型AP患儿中胆囊结石3例、胆道蛔虫2例、胆管囊肿1例,除1例胆道蛔虫患儿采用非手术治疗外,余均采用手术治疗,均治愈;2例重症AP患儿中1例胆囊结石患儿先行保守治疗,后行手术治疗,另1例高脂血症加暴饮暴食者采用非手术治疗,均治愈。结论儿童AP的病因以胆道疾病为主,轻型AP预后良好。儿童AP采取个体化治疗至关重要。     

儿童左束支传导阻滞43例病因及临床特点分析

目的探讨儿童左束支传导阻滞(LBBB)的病因、临床特点及预后。方法回顾分析2013年1月到2018年12月诊断LBBB患儿的临床资料。结果 LBBB患儿43例,男35例、女8例,中位年龄36(9～72)月。其中完全性LBBB 36例,左前分支阻滞7例;心脏增大36例,心功能减低16例。12例为先天性心脏病外科手术(7例为室间隔缺损修补术,5例为复杂先天性心脏病手术),12例室间隔缺损封堵术后,6例为心肌病,4例为心肌炎,4例先天性心脏病术前,3例为无器质性心脏病患儿颅脑外伤及溺水儿童各1例。12例患儿为室间隔缺损封堵术后第1～7日出现LBBB,给予激素、营养心肌等药物治疗后,8例术后早期均恢复,4例治疗后无好转在介入封堵术后第3～8日时取出封堵器及修补室间隔缺损后恢复正常。12例先天性心脏病外科术后出现LBBB,给予激素、营养心肌等药物治疗后,8例患儿恢复正常,3例逐渐进展为III度房室传导阻滞后均植入永久心脏起搏器,1例仍为LBBB;随访时间中位数24(12～49)月,随访结束时,1例室间隔缺损封堵术早期恢复正常随访7个月出现迟发性LBBB;1例复杂先天性心脏病术后仍LBBB,1例暴发性心肌炎仍为LBBB并伴心脏增大及心功能减低;1例2月龄扩张型心肌病合并LBBB因心力衰竭加重而死亡,余儿童无不适,心电图无变化,心功能、左室射血分数均无显著变化。结论儿童LBBB最常见的病因为先天性心脏病外科手术及室间隔缺损封堵术后等,临床上应尽早诊断及处理,并且密切随访。     

婴幼儿先天性心脏病合并气管狭窄的基层诊治策略

目的初步探讨婴幼儿先天性心脏病合并气管狭窄的基层诊治策略。方法回顾性分析泉州市儿童医院2014年5月至2015年11月间收治的25例先天性心脏病合并气管狭窄患儿的临床资料,对先天性心脏病并发或合并分支支气管轻中度狭窄的患儿采用术后早期拔管策略,合并严重气管狭窄的患儿建议转入上级医院接受进一步治疗,并对治疗结局进行评估。结果 18例合并轻中度气管狭窄的简单型先天性心脏病(室间隔缺损,房间隔缺损或动脉导管未闭等)患儿在我院接受先天性心脏病手术,术后均顺利撤离呼吸机; 7例先天性心脏病合并严重气管狭窄的患儿未在我院接受治疗,其中2例转入上级医院接受先天性心脏病联合气管狭窄手术,3例未及时接受手术而死亡。结论对于绝大多数合并节段性轻中度气道狭窄的简单型先天性心脏病婴幼儿,可采取保守治疗策略;而对于合并较为严重气管狭窄的患儿,在基层医院接受手术治疗存在较大风险,应尽早转上级医院接受心脏手术等一系列外科治疗。     

先天性胆总管囊肿并异位胰腺5例

目的 探讨先天性胆总管囊肿并异位胰腺的临床特点、治疗和预后.方法 回顾性分析本院小儿外科诊治的5例先天性胆总管囊肿并异位胰腺患儿的临床表现、辅助检查结果、分型特点、治疗方法和转归等.结果 5例患儿中,表现为黄疸2例,黄疸伴呕吐、黄疸伴腹痛、腹痛伴呕吐各1例;发热1例,肝大1例.5例磁共振胆胰管造影检查均提示为Ⅳa型先天性胆总管囊肿.均行腹腔镜下胆总管囊肿切除+肝总管空肠Roux - en -Y吻合术,术中发现1例异位胰腺位于胆管壁,4例异位胰腺位于距Treitz韧带15 ～30 cm的空肠壁;其中3例距Treitz韧带20 cm以内的患儿离断空肠时一并切除异位胰腺,1例距Treitz韧带30 cm的患儿切除部分肠管并行吻合术.术后随访0.5a以上,均恢复良好.结论 先天性胆总管囊肿可并异位胰腺,其临床表现无特殊性,术前诊断困难.该病多发生于IVa型胆总管囊肿,异位胰腺多位于近端空肠壁.一旦术中发现异位胰腺应同时手术切除,术后效果满意.     

儿童先天性心脏病并发脑脓肿的诊治

目的 探讨先天性心脏病并发脑脓肿的诊断及治疗方法。方法 回顾10年19例先天性心脏病并发脑脓肿患儿，分析其诊断、治疗特点及预后，并行文献资料分析。结果 19例患儿，年龄3～16岁，平均7．4岁，男7例，女12例，病史3d～38个月，平均13个月。法洛四联症13例，肺动脉瓣狭窄合并房间隔缺损(或卵圆孔未闭)3例，室间隔缺损1例，室间隔缺损并肺动脉狭窄2例。16例CT及增强CT扫描确诊，3例MRI扫描确诊。CT动态扫描行疗效评估。抗生素保守治疗7例，治愈3例；外科手术治疗12例，治愈11例，手术方式为脓腔穿刺引流。随访时间9～48个月。结论 先天性心脏病并发脑脓肿预后凶险，CT是诊断其最佳方法，早期穿刺引流是首选治疗手段。     

婴幼儿急性阑尾炎24例临床分析

目的 探讨婴幼儿阑尾炎的临床特点,提高急诊医生对该病的诊断水平,减少误诊率.方法 回顾分析我院2005年8月至2008年8月收治的24例婴幼儿急性阑尾炎的临床表现、辅助检查、诊断及预后.结果 24例患儿中,腹痛22例,发热20例,呕吐15例,腹泻4例;20例患儿接受手术治疗,3例保守治疗,1例先保守后手术治疗,均治愈出院.结论 详细询问病史、耐心细致的体格检查以及合理的辅助检查有助于婴幼儿急性阑尾炎的早期诊断.     

肺动脉闭锁的基因研究进展北大核心CSCD

先天性心脏病是儿童最常见的先天性畸形之一,是导致患儿死亡的一个重要原因。肺动脉闭锁(pulmonary atresia, PA)是其中较为罕见的类型,并发症多,治愈率低,预后差。须从发病原因、手术治疗、术后护理、疾病预后等方面进行综合评估。先天性心脏病的发生与基因突变、环境恶化等众多不利因素密切相关,为该病的预防和治疗带来了极大的挑战。本文将从PA的病因入手,针对其遗传学方面的可能病因进行阐述。     

儿童先天性肺囊性腺瘤样畸形四例临床特点分析

目的探讨儿童先天性肺囊性腺瘤样畸形(congenital cystic adenomatoid malformation of lung,CCAM)的临床、影像及组织病理特点,提高临床对该病的认识。方法收集新乡医学院第一附属医院经病理证实为CCAM的4例患儿病例资料,对其临床表现、影像学及病理特点、治疗方法进行分析。结果3例患儿有反复呼吸道感染,1例自发性气胸;2例胸部X线见到囊性改变,2例胸部CT提示存在CCAM,1例提示肺脓肿,1例提示不除外肺隔离症;4例均手术切除病变肺叶,术后病理证实为CCAM,均预后良好。结论反复呼吸道感染者需注意该病可能,需结合临床表现、CT检查、病理结果共同诊断CCAM,手术切除是有效治疗手段。     

婴幼儿期背部烫伤致青少年瘢痕挛缩性脊柱侧弯

目的 探讨婴幼儿期背部烫伤所致青少年瘢痕挛缩性脊柱侧弯的发病机制、临床表现和治疗方法。方法 1997年8月～2003年6月共诊治各类儿童及青少年脊柱侧弯7000余例，其中仅有2例为瘢痕挛缩性脊柱侧弯，均伴有不同程度的骨盆倾斜。1例先行皮肤扩张、背部瘢痕切除、皮瓣转移术，再行脊柱侧弯前路TSRH矫形内固定术。另1例先行背部瘢痕切除、脊柱侧弯前路松解手术，Halo-股骨牵引50d后再行后路TSRH矫形内固定加胸廓成形术。结果 2例患儿术后外观畸形明显改善，侧弯矫正率分别为91．0％和55．0％，躯干变直，骨盆水平，伤口愈合良好。经3～4个月随访，无明显矫正丢失。结论 婴幼儿期烫伤所致背部严重瘢痕，可在青少年生长发育期诱发瘢痕挛缩性脊柱侧弯，其发病机制、临床表现均与典型青少年特发性脊柱侧弯有所不同。这一类型脊柱侧弯手术方案的制定必须遵循个体化、特异性的治疗原则。     

A case of systemic aplasia cutis congenita: a newly recognized syndrome?

Aplasia cutis congenita, congenital absence of a localized area of skin, usually on the vertex of the scalp, occurs as an isolated defect, or with one or more other congenital anomalies as part of a syndrome, sequence or association. To date, more than 500 cases have been reported. A more severe and extensive form, almost complete absence of skin and subcutaneous tissue, was reported by Park et al. in 1998 [J Med Genet 35:609–611]. Until now, no other such lethal case has been reported. Here, we report the second case of systemic aplasia cutis congenita. The female was born without any skin at all, and with hypoplastic lungs, syndactyly, skull defect, esophageal atresia, intestinal malrotation, and calcifications of the hepatic capsule, as well as with other anomalies. She died about 12 hours after birth probably due to dehydration. On microscopic examination, the external surface of the body showed complete absence of the epidermis. Muscle fibers were thin. There was no evidence of skin appendages. The present case gives strong support to the suggestion that systemic aplasia cutis congenita is a newly recognized syndrome. More cases will have to be reported and studied in order to understand the etiology and establish diagnostic criteria. Thus, it is our conclusion that systemic aplasia cutis congenita might be a newly recognized syndrome.     

Treatment dilemma: conservative versus surgery in cutis aplasia congenita.

Cutis aplasia congenita (CAC), a congenital absence of skin and its appendages, may extend into underlying muscles and bones. The scalp is the commonest site and it may be associated with acrania. CAC presents either as a thin transparent membrane, a black eschar, an ulcer or a healed scar. The dilemma of either immediate surgical management or conservative treatment is much more pronounced in the presence of acrania. Two patients with scalp lesions measuring 12 x 8 cm and 14 x 12 cm respectively and one patient with 4 cm wide circumferential trunk cutis aplasia treated conservatively are presented. The conservative treatment is simple, easy to carry out, and effective even for large defects; therefore, it is recommended in cutis aplasia congenita till complete healing. Surgical interventions such as tissue expansion and resurfacing, contracture release, etc. are for the correction of subsequent deformity at a later date.     

Clinical analysis of the trigger thumb of childhood

Trigger thumb of childhood, termed congenital trigger thumb, is a pathology of the flexor pollicis longus tendon with an unknown etiology. In this study, treatment outcomes of 47 trigger thumbs of 36 children were evaluated. There were 18 males and 18 females with a mean age of 34 months (9 months-13 years). Average age of recognition of pathology by the family was 20.5 months (0-8 years). In seven of 11 bilateral cases pathology was recognized simultaneously while in the other four, diagnosis was made at different times. We used conservative treatment for all patients under three years of age, which was unsuccessful. Thus, surgical relase was performed in all cases. In the mean follow-up of seven years (range 5-15), contracture and palpable nodules disappeared. In conclusion, we believe trigger thumb in childhood should be treated surgically and that the term "congenital trigger thumb" should be changed to "developmental trigger thumb".     

Congenital chylous ascites. Case reports and review of 51 recorded cases (author's transl)]

A case of a nearly 3-year old girl with chylous ascites in neonatal period is reported. Repeated paracentesis were performed and the child was treated with a low fat diet. After time of 8 weeks ascites did not recur. It is purposed, that there was an abdominal lymphdysplasia. The 51 cases in the reviewed literature are analyzed in terms of symptoms, treatment, etiology and prognosis. It is suggested, that congenital chylous ascites should be treated conservative at first.     

婴幼儿先天性乳糜性腹水病因及治疗的探讨

目的 探讨婴儿顽固性乳糜性腹水的病因及治疗方法.方法 回顾性分析2001至2014年我科收治的10例乳糜性腹水患儿临床资料,所有患儿均经过腹穿、实验室检查明确乳糜性腹水诊断,均先采用禁食水、联合静脉营养的保守治疗,症状缓解不明显,再采用腹腔镜探查,然后根据术中所见情况采取腹腔镜下或开放途径相应治疗.10例患儿中采用腹腔镜下Ladd手术6例,扩大脐窝切口将小肠提出腹壁外,开放手术Ladd手术3例,1例因肠系膜根部淋巴结破溃乳糜漏行腹腔镜下淋巴结切除.结果 所有患儿均行钡灌肠检查,其中回盲部位于右上腹者7例,回盲部在正常的右下腹位置3例.腹腔镜探查下10例患儿均有肠旋转不良改变,其中9例有明显的Ladd韧带压迫,6例实施腹腔镜下Ladd手术,3例实施开放Ladd手术,另外1例因肠系膜根部淋巴结破溃乳糜漏行腹腔镜下淋巴结切除,8例患儿治疗后乳糜性腹水明显缓解,2例术后轻度腹胀,经低脂进食保守治疗3个月后腹胀消失,所有患儿定期随访未见明显复发需要再手术者.结论 肠旋转不良系膜根受压是婴幼儿乳糜性腹水形成的重要因素之一,Ladd手术是其治疗的有效方法.     

儿童面部黑色素痣诊治379例

目的回顾性分析2010年1月至2014年12月在本院经手术治疗的379例面部黑色素痣患儿临床资料,总结儿童面部黑色素痣的手术治疗经验。方法379例中,男175例,女204例;年龄44 d至16岁。采用3种术式:单次(235例)或分次(71例)切除缝合,切除加全厚植皮(38例),切除加皮瓣修复,邻近皮瓣转移(34例),1例左面部巨痣行痣大部分切除加股前外游离皮瓣转移修复。采用皮肤科医师和患儿家属双盲主观评价疗效,评价内容为切口瘢痕、面部畸形、色差。结果除1例股前外游离皮瓣转移患儿游离皮瓣吻合口栓塞改为全厚植皮外,所有患儿均完整切除面部黑色素痣,切口Ⅰ级愈合。所有单次或分次切除缝合、临近皮瓣转移者未出现明显瘢痕增生或挛缩,皮肤色泽和弹性与正常皮肤接近,除部分邻近皮瓣转移患儿家长对附加切口不满意外,均获得满意评价。全厚植皮术者植皮区创缘发生轻度瘢痕增生,植皮区色素沉着。所有患儿未继发面部畸形。结论儿童面部黑色素痣的手术设计需兼顾其所处面部美容单位、面积大小,遵循面部美容单位自然的分界线及面部皱纹线走向,选择适宜的切除缝合、皮瓣转移、全厚植皮等术式进行修复,术后可获得较好的美容效果。     

36例儿童肝硬化病因及临床特征分析

目的　探讨儿童肝硬化的病因及临床特征,了解其预后,提高对其认识和诊治水平。方法　回顾性分析华中科技大学同济医学院附属同济医院儿童消化专科2016年10月至2020年12月收治的36例儿童肝硬化患儿的临床资料,包括性别、年龄、既往史、病因、临床表现、并发症、确诊时营养状况、实验室检查结果、基因结果和治疗后随访情况等,比较预后良好组与死亡组患儿的相关指标差异。结果　36例肝硬化患儿,男18例,女18例,年龄为51.7（5,84）月,其中胆道闭锁13例,肝豆状核变性6例,先天性肝内胆管扩张症（Caroli病）2例,进行性家族性肝内胆汁淤积症（PFIC）2 例,遗传性出血性毛细血管扩张症（HHT）1例,尼曼-匹克病1例,先天性胆汁酸合成障碍 1例,新生儿肝内胆内淤积症（NICCD）1例、SDS综合征1例,乙肝肝硬化1例,隐源性肝硬化7例。临床特征主要为脾大18例（50%）、皮肤黄染16例（44.4%）、发热10例（27.7%）、腹胀10例（27.7%）、消化道出血6例（16.6%）、呕吐4例（11.1%）等。确诊肝硬化时8例（22.2%）患儿存在体重低下,12例（33.3%）患儿存在生长迟缓。36例全部行肝胆B超检查诊断肝硬化,其中14例腹部CT检查诊断肝硬化,15例组织病理诊断肝硬化。并发症主要包括食管胃底静脉曲张9例（26.4%）,脾功能亢进和（或）血细胞减少8例（23.5%）,腹腔积液6例（16.6%）等。10例完善基因相关检查,6例检测出致病基因,分别为NPC1、ABCB4、SADM4、ATP7B、SBDS和SLC25A13;所有患儿优先根据病因治疗,在此基础上加用护肝和退黄药等对症支持治疗,其中27（75%）例患儿一般情况良好,7（19.4%）例死亡,8例患儿已行肝移植治疗,2例患儿目前等待肝移植。预后良好组与死亡组两组比较,在丙氨酸转氨酶（ALT）、天冬氨酸转氨酶（AST）、γ-谷氨酰转肽酶（GGT）、凝血酶原时间（PT）、血小板、总胆红素（TBIL）方面差异无统计学意义（P均＞0.05）;在患儿确诊时年龄、白蛋白（ALB）、直接胆红素（DBIL）方面差异有统计学意义（P＜0.05）。结论　儿童肝硬化的病因与成人大不相同,胆道闭锁是其最常见的病因;B超是诊断其最常用的检查方法;肝硬化患儿易出现营养不良,建议加强营养补充;患儿起病年龄越小,伴白蛋白水平越低、直接胆红素水平越高时其预后差、病死率高。     

Tissue expansion for correction of baldness in aplasia cutis congenita

Aplasia cutis is a congenital absence of the skin, usually presenting on the scalp. In 20% of all cases, part of the skull is also absent. A residual area of baldness may still be present some years after surgical or conservative treatment. It is possible to excise the scarred hairless region and cover that area with expanded hair-bearing skin from the rest of the skull. We present three patients who underwent tissue expansion and discuss the indications and pitfalls of this procedure. Conclusion: Tissue expansion can be used to cover a residual alopecia defect in young children with aplasia cutis congenita and associated bone abnormalities. The quality of the bone appears to be normal in our three patients. We demonstrate that even in young children with aplasia cutis and an underlying bony defect, tissue expansion is a safe and effective modality as a second stage reconstruction procedure.